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What is 22q11.2 Deletion Syndrome?
 

What is 22q11.2 Deletion Syndrome?

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    What is 22q11.2 Deletion Syndrome? What is 22q11.2 Deletion Syndrome? Document Transcript

    • What is 22q11.2 Deletion Syndrome? 22q11.2 deletion syndrome is a genetic condition that affects learning, health, and physical traits. It occurs in males and females of all racial and ethnic backgrounds. 22q11.2 deletion syndrome occurs in about 1 in 4,000 to 6,000 people. It is sometimes known as Velocardiofacial or DiGeorge syndrome. How may the syndrome affect my child? Michigan Resources & Support Learning: There is a range of often noticed only by a medical Children’s Special Health Care abilities. Some children with 22q11.2 professional. Short stature is also a Services deletion may have normal learning, common trait. Family Phone Line while others have a developmental Toll-free: 1-800-359-3722 delay, learning disability or severe Medical: Heart defects are very www.michigan.gov/cshcs lifelong learning problems. common. They can be mild or severe enough to need surgery. Many Early On® Michigan Behavior: Mental (psychiatric) children have palate abnormalities. Toll-free: 1-800-EARLY ON illnesses including depression, These include an opening in the www.1800earlyon.org bipolar disorder and schizophrenia roof of the mouth (cleft palate) and a have been reported in some people change in the way the throat closes Michigan Birth Defects Program with 22q11.2 deletion syndrome. (velopharyngeal incompetence). Nurse Follow-up Coordinator Other medical problems can include Toll-free: 1-866-852-1247 Physical: Children with 22q11.2 kidney abnormalities, problems with E-mail: BDRfollowup@michigan.gov deletion syndrome may have certain the immune system and low calcium Michigan Genetics Connection facial features, such as a prominent levels. www.migeneticsconnection.org bridge of the nose and narrow eyes, National Resources & Support How does the syndrome occur? 22q11.2 deletion syndrome is caused by a change in the #22 chromosome. A Chromosome 22 Central very small piece of the chromosome is missing (deleted), including some of the www.nt.net/~a815/chr22.htm genes within it. The child is often the first and only family member affected, but sometimes the deleted chromosome is passed down from a parent. A person International 22q11.2 Deletion with the 22q11.2 deletion has a 1 in 2 (50%) chance of passing it on to each Syndrome Foundation of his or her children. Genetic counseling is recommended for parents to learn Toll-free: 1-877-739-1849 about the genetic cause of the syndrome in their family, and possible health www.22q.org/ risks for other children. Velo-Cardio-Facial Syndrome Educational Foundation How is the syndrome treated? Toll-free: 1-866-VCFSEF5 22q11.2 deletion syndrome cannot be cured, but many symptoms can be www.vcfsef.org treated. Surgery may be needed to repair a heart defect or cleft palate. The immune system should be tested, and the kidneys should be checked by Family Village ultrasound in infancy. Calcium supplements may be needed. Infants and www.familyvillage.wisc.edu toddlers (birth to 3 years) should be connected with Early On® Michigan GeneReviews as soon as possible. When there are concerns about learning, speech, or www.geneclinics.org/profiles/ behavior in a child over 3 years of age, a referral for special education services 22q11deletion should be made. Other therapies or treatments may be available for problems as they arise. Children with 22q11.2 deletion syndrome and their families Genetic and Rare Diseases benefit from having a primary care physician who helps to coordinate their care Information Center with medical specialists and other community-based services. Toll-free: 1-888-205-2311 E-mail: GARDinfo@nih.gov Genetics Home Reference For more information, call Michigan’s Genetics & Birth Defects www.ghr.nlm.nih.gov/condition=22q11 Program toll-free at 1-866-852-1247 or e-mail Genetics@michigan.gov 2deletionsyndrome Supported in part by project # 6 H91MC00215-04-01 as a Special Project of Regional and National Significance (SPRANS), Title V (as amended), Social Security Act, administered by the Maternal and Child Health Bureau, Health Resources and Services Administration, United States Department of Health and Human Services. Rev. 4/06
    • What is Angelman Syndrome? Angelman syndrome is a genetic condition that occurs in males and females of all racial and ethnic backgrounds. It causes health and behavior problems, as well as severe developmental delays. Angelman syndrome occurs in about 1 in 12,000 to 20,000 people. Michigan Resources & Support How may Angelman syndrome affect my child? Learning: Angelman syndrome Physical: Children with Angelman Children’s Special Health Care causes severe delays or mental syndrome may have certain facial Services retardation and problems with features such as a prominent chin, Family Phone Line speech. Most children with Angelman wide mouth, and widely spaced teeth. Toll-free: 1-800-359-3722 syndrome are never able to www.michigan.gov/cshcs communicate with spoken “words” Medical: Children with Angelman or fluent sign language, even though syndrome often have balance Early On® Michigan their understanding may be good. problems with jerky movements of Toll-free: 1-800-EARLY ON their arms and legs. Small head size www.1800earlyon.org Behavior: Children with Angelman (microcephaly), seizures (epilepsy), syndrome may show behaviors such feeding problems, and constipation Michigan Birth Defects Program as a unique, unusual happy state; are also common. Nurse Follow-up Coordinator laughing, smiling and excitability at Toll-free: 1-866-852-1247 the wrong times; and hyperactivity. E-mail: BDRfollowup@michigan.gov They may also have sleep disorders. Michigan Genetics Connection www.migeneticsconnection.org How does Angelman syndrome occur? Angelman Syndrome is caused by a problem with some of the genes located National Resources & Support on the #15 chromosome. The child is usually the first and only family member affected. Genetic counseling is recommended for parents to learn about the Angelman Syndrome Foundation genetic cause of Angelman syndrome in their child, and possible risks for other Toll-free: 1-800-432-6435 children. www.angelman.org American Epilepsy Society Phone: 860-586-7505 How is Angelman syndrome treated? www.aesnet.org Angelman syndrome cannot be cured, but some symptoms can be treated. Infants and toddlers (birth to 3 years) should be connected with Early On® Epilepsy Foundation of America Michigan as soon as possible. When there are concerns about learning, Phone: 301-459-3700 speech, or behavior in a child over 3 years of age, a referral for special www.efa.org education services should be made. Speech therapy is needed with a focus on teaching non-verbal ways of communication. A safe environment, especially Family Village at night, needs to be created to prevent injury. Other therapies or treatments www.familyvillage.wisc.edu may be needed for problems as they arise. Children with Angelman syndrome and their families benefit from having a primary care physician who helps to GeneReviews coordinate their care with medical specialists and community-based services. www.geneclinics.org/profiles/ angelman/ Genetics Home Reference www.ghr.nlm.nih.gov/condition=ang elmansyndrome National Institute of Neurological For more information, call Michigan’s Genetics & Birth Defects Disorders and Stroke Program toll-free at 1-866-852-1247 or e-mail Genetics@michigan.gov www.ninds.nih.gov/disorders/ angelman/angelman.htm Supported in part by project # 6 H91MC00215-04-01 as a Special Project of Regional and National Significance (SPRANS), Title V (as amended), Social Security Act, administered by the Maternal and Child Health Bureau, Health Resources and Services Administration, United States Department of Health and Human Services. Rev. 4/06
    • What is Beckwith-Wiedemann Syndrome? Beckwith-Wiedemann syndrome (BWS) is a genetic condition that affects growth. It occurs in males and females of all ethnic and racial backgrounds. It causes rapid or uneven growth, low blood sugar and other physical features. BWS occurs in about 1 in 13,000 people. How may BWS affect my child? Michigan Resources & Support Learning: Most children with BWS early childhood. Children with BWS Children’s Special Health Care have normal learning unless medical tend to grow rapidly and are big Services complications result in delayed for their age. Uneven (asymmetric) Family Phone Line development. overgrowth of parts of the body may Toll-free: 1-800-359-3722 also occur. www.michigan.gov/cshcs Physical: An opening in the abdomen is common. This may Medical: There is an increased risk Early On® Michigan consist of a bulging near the belly (~7.5%) for certain types of tumors. Toll-free: 1-800-EARLY ON button (hernia) or a large protrusion The risk appears to be the greatest www.1800earlyon.org that contains some of the intestines during the first eight years of life. The (omphalocele). Kidney abnormalities, tumors can be benign or cancerous. Michigan Birth Defects Program cleft palate and creases or pits Low blood sugar (hypoglycemia) is Nurse Follow-up Coordinator in the earlobe are also common. common in newborns. If untreated, Toll-free: 1-866-852-1247 Large body size (macrosomia) and the child’s development may be E-mail: BDRfollowup@michigan.gov enlarged tongue (macroglossia) are affected. Thyroid levels may be low, usually present at birth or develop in while cholesterol is often high. Michigan Genetics Connection www.migeneticsconnection.org How does BWS occur? National Resources & Support There are different ways BWS can occur. Most often, it is caused by changes in genes located on the #11 chromosome. The child with BWS is usually the first Beckwith-Wiedemann Support and only family member affected, but sometimes the condition is passed down Network from a parent. Genetic counseling is recommended for parents to learn about www.beckwith-wiedemann.org/ the genetic cause of BWS in their family, and possible health risks for other children. Beckwith-Wiedemann Syndrome Children’s Foundation Phone: 425-338-4610 How is BWS treated? www.beckwith-wiedemannsyndrome. BWS cannot be cured, but many symptoms can be treated. The effects of BWS org are seen mainly in childhood. Complications occur less often in adults. Soon after birth, low blood sugar must be treated. Surgery may be needed to repair Beckwith-Wiedemann Syndrome an abdominal wall or other birth defect. Frequent screening (about every 3 Family Forum months) using blood tests and ultrasound is needed to check for tumors during www.geocities.com/beckwith_ the first 8 years. When a large tongue is present, evaluation by a craniofacial wiedemann team helps to ensure proper management. Other treatments may be needed for health problems as they arise. Infants and toddlers (birth to 3 years) should BWS Registry be connected with Early On® Michigan if there are concerns about learning, E-mail: bwsregistry@kids.wustl.edu speech, or behavior; while children over 3 years of age should be referred for special education services if concerns arise. Children with BWS and their Family Village www.familyvillage.wisc.edu families benefit from having a primary care physician who helps to coordinate their care with medical specialists and other community-based services. GeneReviews www.geneclinics.org/profiles/bws Genetic and Rare Diseases Information Center For more information, call Michigan’s Genetics & Birth Defects Toll-free: 1-888-205-2311 Program toll-free at 1-866-852-1247 or e-mail Genetics@michigan.gov E-mail: GARDinfo@nih.gov Supported in part by project # 6 H91MC00215-04-01 as a Special Project of Regional and National Significance (SPRANS), Title V (as amended), Social Security Act, administered by the Maternal and Child Health Bureau, Health Resources and Services Administration, United States Department of Health and Human Services. Rev. 4/06
    • What is Down Syndrome? Down syndrome is a genetic condition that occurs in males and females of all racial and ethnic backgrounds. It causes different types of birth defects, as well as developmental disabilities. Down syndrome occurs in about 1 in 800 people. How may Down syndrome affect my child? Michigan Resources & Support Learning: There is wide variation corner of the eye), a small mouth, in the mental abilities of children and a flat nasal bridge. Children with Down Syndrome Support Groups with Down syndrome. Most have Down syndrome are often shorter www.migeneticsconnection.org click on “support group directory” developmental delays. They usually than average, and prone to extra learn at a slower pace, but do not weight gain. Babies may seem Children’s Special Health Care lose skills once they are acquired. “floppy” due to low muscle tone Services They may also have trouble with (hypotonia). Family Phone Line judgment and reasoning. The degree Toll-free: 1-800-359-3722 of mental impairment is usually in the Medical: About 1 in 2 children has www.michigan.gov/cshcs mild to moderate range. a heart defect, which can range from minor to very serious. Other Early On® Michigan Behavior: Emotional problems such common health concerns include Toll-free: 1-800-EARLY ON as behavior issues or depression vision or hearing problems, thyroid www.1800earlyon.org may occur beginning in childhood. disease, and unstable bones in the Michigan Birth Defects Program neck (atlantoaxial instability). Health Nurse Follow-up Coordinator Physical: Common facial features problems such as seizures, diabetes, Toll-free: 1-866-852-1247 include upward slanting eyes with low resistance to infections, intestinal E-mail: BDRfollowup@michigan.gov epicanthal folds (skin over the inside obstruction, and leukemia also affect some people with Down syndrome. Project PERFORM www.wash.k12.mi.us/perform/ How does Down syndrome occur? Down syndrome is caused by an extra copy of the #21 chromosome. The child The Arc Michigan- Family is usually the first and only family member affected, but sometimes there is a Information Exchange family history. In a few families, the extra chromosome is passed down from www.arcmi.org/FIE.htm a parent. The chance of having a baby with Down syndrome increases with a woman’s age. Genetic counseling is recommended for parents to learn more National Resources & Support about the cause of Down syndrome in their family, and possible risks for other children or relatives. National Down Syndrome Congress Toll-free: 1-800-232-6372 www.ndsccenter.org How is Down syndrome treated? Down syndrome cannot be cured, but some symptoms can be treated. All National Down Syndrome Society children with Down syndrome should be checked for heart defects to find out if Toll-free: 1-800-221-4602 medication or surgery is needed. Infants and toddlers (birth to 3 years) should www.ndss.org be connected with Early On® Michigan as soon as possible; while children over 3 years of age should be referred for special education services to address Family Village developmental concerns. Physical and occupational therapies may be helpful. www.familyvillage.wisc.edu Thyroid levels should be checked, and vision/hearing should be screened on Genetics Home Reference a regular basis. Other treatments may be needed for health problems as they www.ghr.nlm.nih.gov/ arise. Children with Down syndrome and their families benefit from having condition=downsyndrome a primary care physician who helps to coordinate their care with medical specialists and other community-based services. KidsHealth.org www.kidshealth.org/parent/medical/ genetic/down_syndrome.html March of Dimes For more information, call Michigan’s Genetics & Birth Defects www.marchofdimes.com Program toll-free at 1-866-852-1247 or e-mail Genetics@michigan.gov click on “Birth Defects” Supported in part by project # 6 H91MC00215-04-01 as a Special Project of Regional and National Significance (SPRANS), Title V (as amended), Social Security Act, administered by the Maternal and Child Health Bureau, Health Resources and Services Administration, United States Department of Health and Human Services. Rev. 4/06
    • What is Fragile X Syndrome? Fragile X syndrome is a genetic condition that occurs in people of all racial and ethnic backgrounds. It is more common in males, but also affects females. Fragile X syndrome is a developmental disorder that affects learning and behavior. It occurs in about 1 in 2,000 people. How may fragile X syndrome affect my child? Michigan Resources & Support Learning: Early motor skills, speech, These include a long face, prominent and language development are forehead and chin, and large ears. Fragile X Association of Michigan commonly delayed in childhood. Head size may be larger than average. Phone: 313-381-2834 People with fragile X syndrome usually The joints may be especially flexible. www.fragilex.org/html/michigan.htm have a learning disability. The degree After puberty, large testes are common may range from mild impairment to in males. Children’s Special Health Care severe mental retardation. Females are Services often less severely affected than males. Medical: Lazy eye, curvature of the Family Phone Line Toll-free: 1-800-359-3722 spine (scoliosis), seizures (epilepsy) or Behavior: Behavioral problems are heart murmurs occur in some people www.michigan.gov/cshcs common in both males and females. with fragile X. Women who carry a These may include unusual hand certain genetic change may have early Early On® Michigan movements, hyperactivity, anxiety, menopause. Older adults who are Toll-free: 1-800-EARLY ON autism spectrum disorder, and other carriers may develop a condition that www.1800earlyon.org behaviors. causes tremors and affects balance Michigan Birth Defects Program and memory, similar to Parkinson’s Physical: Certain facial features may disease. Nurse Follow-up Coordinator be noticed by a medical professional. Toll-free: 1-866-852-1247 E-mail: BDRfollowup@michigan.gov Michigan Genetics Connection How does fragile X syndrome occur? www.migeneticsconnection.org Fragile X syndrome is caused by a change (mutation) in a gene on the “X” chromosome. Fragile X syndrome may run in a family. Women who carry the mutation, or a smaller change called a “premutation”, are more likely to have National Resources & Support affected children. Men who carry the premutation are not expected to have affected children, but their grandchildren (daughter’s children) may have fragile X National Fragile X Foundation syndrome. The genetics of fragile X syndrome is complex. Genetic counseling is Toll-free: 1-800-688-8765 recommended for parents to learn more about fragile X syndrome in their family, www.fragilex.org/ and possible risks for their children. The Fragile X Research Foundation (FRAXA) How is fragile X syndrome treated? Phone: 978-462-1866 www.fraxa.org/ Fragile X syndrome cannot be cured, but some symptoms can be treated. Infants and toddlers (birth to 3 years) should be connected with Early On® Family Village Michigan as soon as possible. When there are concerns about learning, www.familyvillage.wisc speech, or behavior in a child over 3 years of age, a referral for special education services should be made. Children often benefit from physical GeneReviews and occupational therapy, sensory integration, and tools to assist with www.geneclinics.org/profiles/fragilex/ communication. Other therapies or treatments may be needed for behavioral or health problems as they arise. Children with fragile X syndrome and their Genetics Home Reference families benefit from having a primary care physician who helps to coordinate www.ghr.nlm.nih.gov/condition=fragile their care with medical specialists and other community-based services. xsyndrome National Institute of Child Health and Human Development www.nichd.nih.gov/publications/pubs/ For more information, call Michigan’s Genetics & Birth Defects fragileX/index.htm Program toll-free at 1-866-852-1247 or e-mail Genetics@michigan.gov Supported in part by project # 6 H91MC00215-04-01 as a Special Project of Regional and National Significance (SPRANS), Title V (as amended), Social Security Act, administered by the Maternal and Child Health Bureau, Health Resources and Services Administration, United States Department of Health and Human Services. Rev. 4/06
    • What is Klinefelter Syndrome? Klinefelter syndrome is a genetic condition that occurs in males of all racial and ethnic backgrounds. It affects sexual development and may lead to learning disabilities. Klinefelter syndrome occurs in about 1 in 500 to 1 in 1,000 boys. How may Klinefelter syndrome affect my child? Michigan Resources & Support Learning: Most boys with Klinefelter Physical: The features of Klinefelter Children’s Special Health Care syndrome have normal intelligence. syndrome are often so mild that a Services They may have developmental person may not be diagnosed until Family Phone Line delays in some motor skills like there are concerns about sexual Toll-free: 1-800-359-3722 learning to walk. They may also have development or fertility. During www.michigan.gov/cshcs learning disabilities, especially with puberty, increased body fat around speech, language, and reading. the torso and breast enlargement Early On® Michigan (gynecomastia) may occur. Facial Toll-free: 1-800-EARLY ON Behavior: While personality and and body hair is often sparse without www.1800earlyon.org behavior vary, many children are hormone therapy and the testes are described as being quiet, passive usually small. Adult height may be Michigan Birth Defects Program or shy. They may be immature for taller than other family members. Nurse Follow-up Coordinator their age, and have difficulty with Toll-free: 1-866-852-1247 social skills. As boys with Klinefelter Medical: There is an increased risk E-mail: BDRfollowup@michigan.gov syndrome grow up, they may have for health problems such as diabetes, concerns with body image or self- thyroid disease, weak bones esteem. Emotional problems can (osteoporosis), and breast cancer. include anxiety or depression. Most men have normal sexual National Resources & Support function, but are infertile. American Association for Klinefelter Syndrome Information How does Klinefelter syndrome occur? & Support Klinefelter syndrome is caused by an extra copy of an “X” chromosome. Toll-free: 1-888-466-KSIS Usually males have one Y chromosome and one X chromosome in all www.aaksis.org of the body’s cells. Boys with Klinefelter syndrome have a Y and two X chromosomes. The child is usually the first and only family member affected. Klinefelter Syndrome & Genetic counseling is recommended for parents to learn more about Klinefelter Associates syndrome in their family. Toll-free: 1-888-999-9428 www.genetic.org/ks How is Klinefelter syndrome treated? Family Village Klinefelter syndrome cannot be cured, but some symptoms can be treated. www.familyvillage.wisc.edu Infants and toddlers (birth to 3 years) should be connected with Early On® Michigan if there are concerns about learning, speech, or behavior; Genetics Home Reference while children over 3 years of age should be referred for special education www.ghr.nlm.nih.gov/condition=kline services if concerns arise. Around the time of puberty, testosterone hormone feltersyndrome levels should be checked. Many boys have low levels and will benefit from hormone treatment to reduce physical signs of Klinefelter syndrome. Assisted National Institute of Child Health reproduction techniques have helped some men become biological fathers. and Human Development Children with Klinefelter syndrome and their families benefit from having www.nichd.nih.gov/publications/ a primary care physician who helps to coordinate their care with medical pubs/klinefelter.htm specialists and other community-based services. For more information, call Michigan’s Genetics & Birth Defects Program toll-free at 1-866-852-1247 or e-mail Genetics@michigan.gov Supported in part by project # 6 H91MC00215-04-01 as a Special Project of Regional and National Significance (SPRANS), Title V (as amended), Social Security Act, administered by the Maternal and Child Health Bureau, Health Resources and Services Administration, United States Department of Health and Human Services. Rev. 4/06
    • What is Marfan Syndrome? Marfan syndrome is a genetic condition that occurs in males and females of all racial and ethnic backgrounds. It affects the body’s connective tissue and can cause heart, eye, and bone problems. The symptoms vary widely, ranging from mild to severe. Marfan syndrome occurs in about 1 in 5,000 to 1 in 10,000 people. How may Marfan syndrome affect my child? Michigan Resources & Support Learning: In general, Marfan Medical: Symptoms can range from Children’s Special Health Care syndrome does not affect learning or mild to very severe. Nearsighted Services intelligence. Loose joints may affect vision (myopia) is typical, and Family Phone Line large motor skills in some children. often the first symptom identified. Toll-free: 1-800-359-3722 A dislocated lens (ectopia lentis) is www.michigan.gov/cshcs Physical: People with Marfan a common sign often detected only syndrome are often thin and tall by a special eye exam (slit lamp). Early On® Michigan with long limbs relative to the body’s Cataracts, glaucoma and retinal Toll-free: 1-800-EARLY ON torso. Bones and cartilage may be detachment may also occur. Heart www.1800.earlyon.org affected, leading to curvature of the problems, such as a floppy valve spine (scoliosis). The shape of the (mitral valve prolapse) are common Michigan Birth Defects Program breast bone may cause a protruding and can cause shortness of breath Nurse Follow-up Coordinator or sunken chest. The joints may and fatigue. The aorta may be wider Toll-free: 1-866-852-1247 be very loose and flexible. The jaw and more fragile than normal. If not E-mail: BDRfollowup@michigan.gov is often narrow with a high-arched detected, there is a risk of aortic palate that can lead to dental rupture (aneurysm) with serious Michigan Genetics Connection crowding. complications including death. www.migeneticsconnection.org How does Marfan syndrome occur? National Resources & Support Marfan syndrome is caused by a change in a gene (mutation). A child with Marfan syndrome may be the first and only family member affected, or the National Marfan Foundation gene may be passed down from an affected parent. Parents of a newly Toll-free: 1-800-862-7326 diagnosed child should be checked carefully to look for signs of Marfan www.marfan.org syndrome. There is a 1 in 2 chance that each child will have Marfan syndrome when a parent carries the gene. Genetic counseling is recommended for Family Village parents to learn about possible risks for other family members. www.familyvillage.wisc.edu How is Marfan syndrome treated? GeneReviews www.geneclinics.org/profiles/marfan/ Marfan syndrome cannot be cured, but many symptoms can be treated. It is important for a child with Marfan syndrome to be monitored by medical Genetics Home Reference specialists who understand the condition. Most eye problems are corrected www.ghr.nlm.nih.gov/condition=marfa with glasses alone but sometimes other procedures are needed. Everyone with nsyndrome Marfan syndrome must be under the care of a heart specialist (cardiologist). Frequent monitoring by ultrasound (echocardiogram) is needed, and medication KidsHealth.org or surgical procedures may be required. Other therapies or treatments may kidshealth.org/kid/health_problems/ be needed for health problems as they occur. Infants and toddlers (birth to 3 birth_defect/marfan.html years) should be connected with Early On® Michigan if there are concerns about development; while children over 3 years of age should be referred for special March of Dimes education services if concerns arise. Children with Marfan syndrome and their www.marchofdimes.com families benefit from having a primary care physician who helps to coordinate click on Birth Defects & Genetics their care with medical specialists and other community-based services. National Institute of Arthritis and Musculoskeletal and Skin Diseases www.niams.nih.gov/hi/topics/marfan/ marfan.htm For more information, call Michigan’s Genetics & Birth Defects Program toll-free at 1-866-852-1247 or e-mail Genetics@michigan.gov Supported in part by project # 6 H91MC00215-04-01 as a Special Project of Regional and National Significance (SPRANS), Title V (as amended), Social Security Act, administered by the Maternal and Child Health Bureau, Health Resources and Services Administration, United States Department of Health and Human Services. Rev. 4/06
    • What is Neurofibromatosis? Neurofibromatosis, type 1 (NF1) is a genetic condition that occurs in males and females of all racial and ethnic backgrounds. It mainly changes the development and growth of nerve cells affecting the skin, eyes, nerves and bones of the body. NF1 is found in about 1 in 3,000 people. Michigan Resources & Support How may neurofibromatosis affect my child? Learning: Most people with NF1 a child’s height may be shorter than Children’s Tumor Foundation, have normal intelligence. Learning other children the same age. Small Michigan Chapter disabilities are seen in about half the nerve tumors called neurofibromas www.ctf.org/michigan/ children who have NF1. may grow on or under the skin. They NF Support Group of West are typically benign (non-cancerous). Michigan Behavior: Attention deficit Lisch nodules are tiny bumps that Phone: 616-451-3699 hyperactivity disorder (ADHD) is may be seen in the iris of the eyes, www.nfsupport.org/ common in children with NF1. but do not affect vision. Children’s Special Health Care Medical: Tumors of the eye nerve Services Physical: Spots on the skin called (optic gliomas) or other tumors in the Family Phone Line “café au lait spots” (meaning the color brain or spinal cord may develop in Toll-free: 1-800-359-3722 of coffee with milk) develop during the childhood. Sometimes cancerous www.michigan.gov/cshcs first few years of life. The spots are tumors grow along the nerves. There is present but may not be as obvious in Early On® Michigan also an increased risk of other cancers Toll-free: 1-800-EARLY ON people with NF1 who have darker skin and leukemia. Additional symptoms www.1800earlyon.org color. Freckles usually develop under include bone abnormalities such as the arms or in the groin area. Head Michigan Birth Defects Program curvature of the spine (scoliosis), high size may be larger than average while Nurse Follow-up Coordinator blood pressure and seizures. Toll-free: 1-866-852-1247 E-mail: BDRfollowup@michigan.gov How does neurofibromatosis occur? NF1 is caused by a change in a gene (mutation). A child with NF1 may be the Michigan Genetics Connection first and only family member affected, or the NF1 gene may be passed down www.migeneticsconnection.org from an affected parent. Parents of a newly diagnosed child should be checked carefully to look for signs of NF1. There is a 1 in 2 chance that each child will National Resources & Support have NF1 when a parent carries the gene. Genetic counseling is recommended for parents to learn about possible health risks for other family members. Neurofibromatosis, Inc. Toll-free: 1-800-942-6825 www.nfinc.org How is neurofibromatosis treated? Family Village NF1 cannot be cured, but some symptoms can be treated. Bone deformities or www.familyvillage.wisc.edu painful tumors may be treated by surgery. Any tumors that become cancerous may require chemotherapy, radiation or surgery. Yearly eye examinations Genetics Home Reference are recommended to look for signs of optic glioma. Blood pressure should www.ghr.nlm.nih.gov/ghr/disease/ be monitored at regular check-ups. Other treatments may be needed for neurofibromatosistype1 health problems as they arise. Infants and toddlers (birth to 3 years) should March of Dimes be connected with Early On® Michigan if there are concerns about learning, www.marchofdimes.com, click on Birth speech, or behavior; while children over 3 years of age should be referred Defects & Genetics for special education services if concerns arise. Children with NF1 and their National Institute of Neurological families benefit from having a primary care physician who helps to coordinate Disorders and Stroke their care with medical specialists and other community-based services. www.ninds.nih.gov/disorders/ neurofibromatosis/neurofibromatosis. htm Understanding NF1: A medical For more information, call Michigan’s Genetics & Birth Defects resource Program toll-free at 1-866-852-1247 or e-mail Genetics@michigan.gov www.understandingnf1.org/ Supported in part by project # 6 H91MC00215-04-01 as a Special Project of Regional and National Significance (SPRANS), Title V (as amended), Social Security Act, administered by the Maternal and Child Health Bureau, Health Resources and Services Administration, United States Department of Health and Human Services. Rev. 4/06
    • What is Noonan Syndrome? Noonan syndrome is a genetic condition that occurs in males and females of all racial and ethnic backgrounds. It can cause certain facial features, heart defects, bleeding problems, short stature, and developmental delays, especially with speech and language. Noonan syndrome occurs in about 1 in 1,000 to 2,500 people. Michigan Resources & Support How may Noonan syndrome affect my child? Learning: Most children with Noonan Noonan syndrome are shorter than Children’s Special Health Care syndrome have normal learning. average. Services Some may have developmental Family Phone Line delays and lifelong learning Medical: Problems with feeding and Toll-free: 1-800-359-3722 disabilities. Problems with speech slow weight gain are common in www.michigan.gov/cshcs and language are common. babies. Between 50% and 80% of children with Noonan syndrome are Early On® Michigan Physical: Facial features may born with a heart defect. Abnormal Toll-free: 1-800-EARLY ON include widely spaced eyes, droopy bleeding or bruising is common. Mild www.1800earlyon.org eyelids (ptosis), and low set ears. hearing loss and vision problems These features may be very mild can also occur. It is common for Michigan Birth Defects Program in adults. A broad or webbed neck males with Noonan syndrome Nurse Follow-up Coordinator may be noted. The chest may be to have undescended testicles Toll-free: 1-866-852-1247 an unusual shape with nipples that (cryptorchidism). E-mail: BDRfollowup@michigan.gov appear low-set. Many children with Michigan Genetics Connection How does Noonan syndrome occur? www.migeneticsconnection.org Noonan syndrome is caused by a change in a gene (mutation). A child with Noonan syndrome may be the first and only family member affected, or the genetic trait may be passed down from an affected parent. Parents of a newly National Resources & Support diagnosed child should be checked carefully to look for signs of the condition. There is a 1 in 2 chance that each child will have Noonan syndrome when a Noonan Syndrome Support parent carries the gene. Genetic counseling is recommended for parents to Group learn about the genetic cause of Noonan syndrome in their family, and possible Toll-free: 1-888-686-2224 health risks for other children. www.noonansyndrome.org Family Village How is Noonan syndrome treated? www.familyvillage.wisc.edu Noonan syndrome cannot be cured, but many symptoms can be treated. Infants and toddlers (birth to 3 years) should be connected with Early On® GeneReviews Michigan if there are concerns about learning, speech, or behavior; while www.geneclinics.org/profiles/noonan children over 3 years of age should be referred for special education services if concerns arise. Heart defects may be treated with medication or surgery. It is Genetics Home Reference important to check hearing and vision on a regular basis. Lab tests should be www.ghr.nlm.nih.gov/ghr/disease/ done to check blood clotting. Growth should be monitored and use of growth noonansyndrome hormone may be considered to increase final adult height. Other treatments may be needed for health problems as they arise. Children with Noonan Human Growth Foundation syndrome and their families benefit from having a primary care physician who Toll-free: 1-800-451-6434 helps to coordinate their care with medical specialists and other community- www.hgfound.org based services. The MAGIC Foundation Phone: 708-383-0808 www.magicfoundation.org For more information, call Michigan’s Genetics & Birth Defects Program toll-free at 1-866-852-1247 or e-mail Genetics@michigan.gov Supported in part by project # 6 H91MC00215-04-01 as a Special Project of Regional and National Significance (SPRANS), Title V (as amended), Social Security Act, administered by the Maternal and Child Health Bureau, Health Resources and Services Administration, United States Department of Health and Human Services. Rev. 4/06
    • What is Prader-Willi Syndrome? Prader-Willi syndrome (PWS) is a genetic condition that affects males and females of all racial and ethnic backgrounds. It causes problems with a child’s health, behavior and learning. PWS occurs in about 1 in 10,000 to 20,000 people. How may Prader-Willi syndrome affect my child? Michigan Resources & Support Learning: Every child with PWS is external genitalia are common. The unique, but most have developmental amount of saliva in the mouth may be Prader-Willi Syndrome and speech delays or learning less than usual. Association of Michigan problems to some degree. The www.pwsausa.org/mi mental impairment is usually mild or Medical: Low muscle tone and moderate. Rarely, a child may have trouble with feeding are typical Children’s Special Health Care severe mental retardation. in infancy. Curvature of the spine Services (scoliosis) and eye muscle problems Family Phone Line Behavior: Behavioral problems may may be present. Overeating, Toll-free: 1-800-359-3722 include sleep disturbance, obsessive- leading to rapid weight gain, begins www.michigan.gov/cshcs compulsive behavior, temper in early childhood. Without strict tantrums and skin picking. control, obesity, diabetes and other Early On® Michigan weight-related problems are likely Toll-free: 1-800-EARLY ON Physical: Children with PWS may to develop. Low sex hormone levels www.1800earlyon.org have lighter skin, hair and eyes than (hypogonadism) are common, other family members. They may be leading to lack of normal physical Michigan Birth Defects Program short for their age and have smaller development and infertility. Nurse Follow-up Coordinator hands and feet than average. Small Toll-free: 1-866-852-1247 E-mail: BDRfollowup@michigan.gov How does Prader-Willi syndrome occur? PWS is caused by changes in genes located on the #15 chromosome. The Michigan Genetics Connection genetic cause can often be found with special tests. The child is usually the www.migeneticsconnection.org first and only family member affected. Sometimes, the condition can recur in sisters or brothers. Genetic counseling is recommended for parents to learn National Resources & Support about the genetic cause of PWS in their family, and possible risks for other children. Prader-Willi Syndrome Association (USA) Toll-free: 1-800-926-4797 How is Prader-Willi syndrome treated? www.pwsausa.org PWS cannot be cured, but some symptoms can be treated. Special feeding techniques may be needed for a baby with PWS. After the first year or two, Family Village food intake will need to be strictly controlled. Behavior therapy may help control www.familyvillage.wisc.edu the urge to eat. Infants and toddlers (birth to 3 years) should be connected with Early On® Michigan as soon as possible. When there are concerns about GeneReviews learning, speech, or behavior in a child over 3 years of age, a referral for www.geneclinics.org/profiles/pws special education services should be made. Other therapies or treatments may be needed for developmental or health problems as they arise. Children with Genetic and Rare Diseases PWS and their families benefit from having a primary care physician who helps Information Center to coordinate their care with medical specialists and other community-based Toll-free: 1-888-205-2311 services. E-mail: GARDinfo@nih.gov Genetics Home Reference www.ghr.nlm.nih.gov/condition=prad erwillisyndrome For more information, call Michigan’s Genetics & Birth Defects Program toll-free at 1-866-852-1247 or e-mail Genetics@michigan.gov. Supported in part by project # 6 H91MC00215-04-01 as a Special Project of Regional and National Significance (SPRANS), Title V (as amended), Social Security Act, administered by the Maternal and Child Health Bureau, Health Resources and Services Administration, United States Department of Health and Human Services. Rev. 4/06
    • What is Rett Syndrome? Rett syndrome is a developmental disorder that affects the brain and nervous system. It occurs mostly in girls of all racial and ethnic backgrounds. After a period of normal development, the condition causes serious developmental problems and difficulty with movement. Rett syndrome occurs in approximately 1 in 10,000 to 15,000 females. It is very rare in males but can occur. How may Rett syndrome affect my child? Michigan Resources & Support Learning: Affected girls develop Physical: Body movement is normally until about 6 to 18 months affected over time. Purposeful Children’s Special Health Care of age. At that time, language and hand movements are replaced with Services motor skills are quickly lost. Speech repeated wringing, washing, or Family Phone Line and control of hand movements clapping gestures. Most girls with Toll-free: 1-800-359-3722 are most often affected. After the Rett syndrome are small for their www.michigan.gov/cshcs time period when skills are lost, the age. Foot and hand deformities and level of development may remain curvature of the spine (scoliosis) are Early On® Michigan stable. Older children may have slow common. Broken bones tend to occur Toll-free: 1-800-EARLY ON improvement in some areas. more often than in other children. www.1800earlyon.org Behavior: Many girls with Rett Medical: Smaller head size Michigan Birth Defects Program syndrome have panic-like attacks (microcephaly) develops in early Nurse Follow-up Coordinator and inconsolable crying. Teeth- childhood. Feeding and digestive Toll-free: 1-866-852-1247 grinding is a common trait. Some problems are common, including E-mail: BDRfollowup@michigan.gov other behaviors may be similar to constipation. Abnormal breathing those found in children with autism. patterns and seizures (epilepsy) may Michigan Genetics Connection also occur. www.migeneticsconnection.org National Resources & Support How does Rett syndrome occur? Rett syndrome is caused by a change in a gene on the “X” chromosome. The International Rett Syndrome genetic cause can be found in most children with Rett syndrome. The child Association is usually the first and only family member affected. In rare instances, the Toll-free: 1-800-818-7388 condition can recur in sisters or brothers. Genetic counseling is recommended www.rettsyndrome.org for parents to learn about the genetic cause of Rett syndrome in their family, Includes RettNet web forum and possible risks for other children. Rett Syndrome Research Foundation How is Rett syndrome treated? Phone: 513-874-3020 Rett syndrome cannot be cured, but some symptoms can be treated. Infants www.rsrf.org and toddlers (birth to 3 years) should be connected with Early On® Michigan as soon as possible. When there are concerns about learning, speech, or Family Village behavior in a child over 3 years of age, a referral for special education services www.familyvillage.wisc.edu should be made. A speech therapist can help find the best way for a child with Rett syndrome to communicate. Occupational and physical therapy help with GeneReviews movement and mobility. Other therapies or treatments may be needed for www.geneclinics.org/profiles/rett problems as they arise. Children with Rett syndrome and their families benefit from having a primary care physician who helps to coordinate their care with Genetic and Rare Diseases medical specialists and other community-based services. Information Center Toll-free: 1-888-205-2311 E-mail: GARDinfo@nih.gov Genetics Home Reference www.ghr.nlm.nih.gov/ For more information, call Michigan’s Genetics & Birth Defects condition=rettsyndrome Program toll-free at 1-866-852-1247 or e-mail Genetics@michigan.gov Supported in part by project # 6 H91MC00215-04-01 as a Special Project of Regional and National Significance (SPRANS), Title V (as amended), Social Security Act, administered by the Maternal and Child Health Bureau, Health Resources and Services Administration, United States Department of Health and Human Services. Rev. 4/06
    • What is Smith-Magenis Syndrome? Smith-Magenis syndrome (SMS) is a genetic condition that occurs in males and females of all ethnic and racial backgrounds. It causes certain facial features, behavior difficulties and mental impairment. SMS occurs in about 1 in 15,000 to 25,000 people. How may SMS affect my child? Michigan Resources & Support Learning: Children with SMS usually have certain facial features, such as have developmental delays. Most have flat cheekbones and eyebrows that Children’s Special Health Care mild to moderate mental impairment. meet in the middle. They are often Services Parents report their children with SMS short for their age. A hoarse, deep Family Phone Line have a remarkable memory for names, voice is a common feature. A square- Toll-free: 1-800-359-3722 places and events. shaped face and prominent jaw www.michigan.gov/cshcs become more noticeable as a child Behavior: Children with SMS often with SMS grows up. Early On Michigan ® have an appealing personality and Toll-free: 1-800-EARLY ON great sense of humor. Some common Medical: Babies with SMS often www.1800earlyon.org behaviors present a challenge. These have low muscle tone and feeding include sleep disturbances, mouthing problems. Constipation is common. Michigan Birth Defects Program objects or hands, sudden mood There may be hearing loss and Nurse Follow-up Coordinator changes and self-injury. Children may eye problems. Some children with Toll-free: 1-866-852-1247 also have unusual behaviors that are SMS have birth defects such as E-mail: BDRfollowup@michigan.gov specific to SMS, such as hand licking cleft lip, heart defects, and kidney and page flipping. defects. A person with SMS may Michigan Genetics Connection have an unusual gait, and is prone to www.migeneticsconnection.org Physical: Children with SMS may curvature of the spine (scoliosis). How does SMS occur? National Resources & Support SMS is caused by a problem in the #17 chromosome. In most cases, a very small piece of the chromosome is missing (deleted), including some of the Parents and Researchers genes within it. The child with SMS is usually the first and only family member Interested in Smith-Magenis affected, but sometimes the deleted chromosome is passed down from a Syndrome parent. Genetic counseling is recommended for parents to learn about the Phone: 972-231-0035 genetic cause of SMS in their family, and possible risks for other children. www.prisms.org Family Village How is SMS treated? www.familyvillage.wisc.edu SMS cannot be cured, but some symptoms can be treated. Infants and toddlers (birth to 3 years) should be connected with Early On® Michigan as soon as GeneReviews possible. When there are concerns about learning, speech, or behavior in www.geneclinics.org/profiles/sms a child over 3 years of age, a referral for special education services should be made. Speech, occupational and physical therapy may help. Medication Genetic and Rare Diseases may help sleep disturbances, and there may be ways to improve behavior. Information Center Additional therapies and treatments may be needed as other problems arise. Toll-free: 1-888-205-2311 A child with SMS should be checked for any problem with the kidneys, heart, E-mail: GARDinfo@nih.gov spine, or eyes. Children with SMS and their families benefit from having a primary care physician who helps to coordinate their care with medical Genetics Home Reference specialists and other community-based services. www.ghr.nlm.nih.gov/condition=smit hmagenissyndrome For more information, call Michigan’s Genetics & Birth Defects Program toll-free at 1-866-852-1247 or e-mail Genetics@michigan.gov Supported in part by project # 6 H91MC00215-04-01 as a Special Project of Regional and National Significance (SPRANS), Title V (as amended), Social Security Act, administered by the Maternal and Child Health Bureau, Health Resources and Services Administration, United States Department of Health and Human Services. Rev. 4/06
    • What is Tuberous Sclerosis? Tuberous sclerosis (TS) is a genetic condition that occurs in males and females of all racial and ethnic backgrounds. It often affects the central nervous system, causing seizures. It can also lead to non-cancerous tumors in various organs such as the skin, brain, kidneys, heart and eyes. TS occurs in about 1 in 6,000 people. Michigan Resources & Support How may tuberous sclerosis affect my child? Learning: Many people with TS facial tumors and fibrous growths Tuberous Sclerosis Alliance of have normal intelligence. Others may around the nails. Michigan have lifelong learning problems that www.tsalliance.org, click on Local range from mild impairment to severe Medical: Children with TS often Resources mental retardation. have seizures (epilepsy). The Children’s Special Health Care seizures are caused by “tubers”, Services Behavior: Hyperactivity, attention small areas of the brain’s outer Family Phone Line deficit disorder, or aggressive layer that did not develop normally. Toll-free: 1-800-359-3722 behavior may occur. Children with Other brain tumors may also occur. www.michigan.gov/cshcs TS may also be diagnosed with an Tumors may also form in other autism spectrum disorder. organs including the heart, lungs, Early On® Michigan kidneys and eyes. Some tumors Toll-free: 1-800-EARLY ON Physical: Skin changes are common may get smaller and disappear with www.1800earlyon.org in people with TS. They usually do age while others may grow and not lead to serious medical problems, cause problems later in life. Most of Michigan Birth Defects Program but can cause cosmetic concerns. the tumors are benign (non-cancer) Nurse Follow-up Coordinator Skin signs can include white or pale but may have a risk for becoming Toll-free: 1-866-852-1247 areas, tough and dimpled patches, cancerous. E-mail: BDRfollowup@michigan.gov Michigan Genetics Connection How does tuberous sclerosis occur? www.migeneticsconnection.org TS is caused by a change in a gene (mutation). A child with TS may be the first and only family member affected, or the TS gene may be passed down from National Resources & Support an affected parent. Parents of a newly diagnosed child should be checked carefully to look for signs of TS. There is a 1 in 2 chance that each child will Tuberous Sclerosis Alliance have TS when a parent carries the gene. Genetic counseling is recommended Toll-free: 1-800-225-6872 for parents to learn about possible health risks for other family members. www.tsalliance.org Epilepsy Foundation of America How is tuberous sclerosis treated? Toll-free: 1-800-332-1000 TS cannot be cured, but some symptoms can be treated. Seizures may be www.efa.org treated by medication. Tumors may be treated by surgery. Imaging studies by ultrasound, CT or MRI should be done to screen for tumors. The frequency and Family Village types of studies will depend on symptoms and screening results. Infants and www.familyvillage.wisc.edu toddlers (birth to 3 years) should be connected with Early On® Michigan if there are concerns about learning, speech, or behavior; while children over 3 years GeneReviews of age should be referred for special education services if concerns arise. www.geneclinics.org/profiles/ Other therapies or treatments may be needed for health problems as they tuberous-sclerosis occur. Children with TS and their families benefit from having a primary care Genetic and Rare Diseases physician who helps to coordinate their care with medical specialists and other Information Center community-based services. Toll-free: 1-888-205-2311 E-mail: GARDinfo@nih.gov Genetics Home Reference www.ghr.nlm.nih.gov/ghr/disease/ For more information, call Michigan’s Genetics & Birth Defects tuberoussclerosis Program toll-free at 1-866-852-1247 or e-mail Genetics@michigan.gov Supported in part by project # 6 H91MC00215-04-01 as a Special Project of Regional and National Significance (SPRANS), Title V (as amended), Social Security Act, administered by the Maternal and Child Health Bureau, Health Resources and Services Administration, United States Department of Health and Human Services. Rev. 4/06
    • What is Turner Syndrome? Turner syndrome is a genetic condition that occurs in females of all racial and ethnic backgrounds. It mainly affects growth and fertility, but can also cause other health problems. The condition occurs in about 1 in 2,500 female births. How may Turner syndrome affect my child? Michigan Resources & Support Learning: In general, girls with also have other physical features Turner syndrome have normal such as lower set ears, droopy Turner Syndrome Society intelligence. They may have learning eyelids, a low hairline at the back of • Southeastern Michigan Chapter differences that make verbal learning the neck, a webbed neck and puffy • West Michigan Chapter easier than subjects like math. Some hands/feet. www.turner-syndrome-us.org girls have difficulty with visual-spatial Click on “find a local chapter” skills such as reading maps. Memory Medical: Heart defects, kidney Children’s Special Health Care and motor coordination may also be problems, and high blood pressure Services affected. are common. Vision or hearing Family Phone Line may be affected. There is a higher Toll-free: 1-800-359-3722 Behavior: Attention Deficit chance of diabetes as well as thyroid www.michigan.gov/cshcs Hyperactivity Disorder (ADHD) disorders. Most girls will not begin sometimes affects behavior in puberty or have menstrual periods Early On® Michigan childhood. As girls with Turner without hormone therapy. Because Toll-free: 1-800-EARLY ON syndrome grow up, they may also the ovaries do not develop normally, www.1800earlyon.org have concerns with body image and women with Turner syndrome self-esteem. usually have infertility. Skeletal Michigan Birth Defects Program problems, such as curvature of the Nurse Follow-up Coordinator Toll-free: 1-866-852-1247 Physical: One of the most common spine (scoliosis) and weak bones E-mail: BDRfollowup@michigan.gov features is short stature. Girls may (osteoporosis) may occur later in life. Michigan Genetics Connection How does Turner syndrome occur? www.migeneticsconnection.org Turner syndrome is caused by a missing “X” chromosome. Usually females have two X chromosomes in all of the body’s cells. Girls with Turner syndrome National Resources & Support are missing all or part of one X chromosome. A girl with Turner syndrome is usually the first and only family member affected. Genetic counseling is Turner Syndrome Society of the recommended for parents to learn more about Turner syndrome in their family. United States Toll-free: 1-800-365-9944 www.turner-syndrome-us.org How is Turner syndrome treated? Turner syndrome cannot be cured, but many symptoms can be treated. All girls Family Village with Turner syndrome should be checked for heart and kidney defects. Infants www.familyvillage.wisc.edu and toddlers (birth to 3 years) should be connected with Early On® Michigan if Genetics Home Reference there are concerns about learning, speech, or behavior; while children over 3 www.ghr.nlm.nih.gov/condition=turner years of age should be referred for special education services if concerns arise. syndrome Growth hormone therapy beginning in childhood can help to increase final height as an adult. Estrogen hormone therapy will assist with the onset and KidsHealth.org progression of normal puberty. Other therapies or treatments may be needed www.kidshealth.org/parent/medical/ for problems as they arise. Assisted reproductive techniques may allow some genetic/turner.html women to become pregnant. Girls with Turner syndrome and their families National Institute of Child Health benefit from having a primary care physician who helps to coordinate their care and Human Development with medical specialists and other community-based service providers. http://turners.nichd.nih.gov/ The MAGIC Foundation Phone: 708-383-0808 Toll-free Parent Line: 1-800-362-4423 For more information, call Michigan’s Genetics & Birth Defects www.magicfoundation.org/www/ Program toll-free at 1-866-852-1247 or e-mail Genetics@michigan.gov docs/115/turner_syndrome.html Supported in part by project # 6 H91MC00215-04-01 as a Special Project of Regional and National Significance (SPRANS), Title V (as amended), Social Security Act, administered by the Maternal and Child Health Bureau, Health Resources and Services Administration, United States Department of Health and Human Services. Rev. 4/06
    • What is Williams Syndrome? Williams syndrome is a genetic condition that occurs in both males and females of all ethnic and racial backgrounds. It affects physical features, health, learning, and behavior. Williams syndrome occurs in about 1 in 7,500 people. How may Williams syndrome affect my child? Michigan Resources & Support Learning: Young children often have facial features such as a wide mouth, developmental delays. Older children full lips, small teeth, and puffiness Children’s Special Health Care and adults may have learning around the eyes. The voice may Services disabilities or mild mental impairment. sound hoarse. Soft skin and loose Family Phone Line They may also show a great interest joints are common. Toll-free: 1-800-359-3722 or ability in music, and have specific www.michigan.gov/cshcs intellectual strengths. Medical: Feeding problems are common in infants and young Early On® Michigan Behavior: Infants may have children. High calcium levels Toll-free: 1-800-EARLY ON problems sleeping and be overly (hypercalcemia) may occur. This www.1800earlyon.org sensitive to sound. Children with can cause irritability, vomiting, Williams syndrome often have constipation and muscle cramps. Michigan Birth Defects Program attention deficit disorder and an Heart and blood vessel disease may Nurse Follow-up Coordinator “overly-friendly” personality. develop. A narrowing of the main Toll-free: 1-866-852-1247 blood vessel leading from the heart, E-mail: BDRfollowup@michigan.gov Physical: Low birth weight and poor called supravalvular aortic stenosis, weight gain are common. People with is a frequent finding. Eye problems Michigan Genetics Connection Williams syndrome often have certain may also occur. www.migeneticsconnection.org How does Williams syndrome occur? National Resources & Support Williams syndrome is caused by a change in the #7 chromosome. A very small piece of the chromosome is missing (deleted), including some of the genes Williams Syndrome Association within it. The child with Williams syndrome is usually the first and only family Toll-free: 1-800-806-1871 member affected. Sometimes the deleted chromosome is passed down from a www.williams-syndrome.org parent. A person with Williams syndrome has a 1 in 2 (50%) chance of passing the trait on to each of his or her children. Genetic counseling is recommended Williams Syndrome Foundation for parents to learn about the genetic cause of Williams syndrome in their Phone: 949-824-7259 family and possible risks for other children. www.wsf.org Family Village How is Williams syndrome treated? www.familyvillage.wisc.edu Williams syndrome cannot be cured, but many symptoms can be treated. Infants and toddlers (birth to 3 years) should be connected with Early On® GeneReviews Michigan as soon as possible. When there are concerns about learning, www.geneclinics.org/profiles/ speech, or behavior in a child over 3 years of age, a referral for special williams education services should be made. Calcium levels should be checked, and the child should be monitored for heart problems as well as vision or hearing Genetic and Rare Diseases problems. Heart surgery or other treatments may be needed for health Information Center problems as they arise. Children with Williams syndrome and their families Toll-free: 1-888-205-2311 benefit from having a primary care physician who helps to coordinate their care E-mail: GARDinfo@nih.gov with medical specialists and community-based services. Genetics Home Reference www.ghr.nlm.nih.gov/condition=willia mssyndrome For more information, call Michigan’s Genetics & Birth Defects Program toll-free at 1-866-852-1247 or e-mail Genetics@michigan.gov Supported in part by project # 6 H91MC00215-04-01 as a Special Project of Regional and National Significance (SPRANS), Title V (as amended), Social Security Act, administered by the Maternal and Child Health Bureau, Health Resources and Services Administration, United States Department of Health and Human Services. Rev. 4/06