Uploaded on

Apert syndrome is a genetic disorder characterized by the premature fusion of certain skull bones (craniosynostosis). This early fusion prevents the skull from growing normally and affects the shape …

Apert syndrome is a genetic disorder characterized by the premature fusion of certain skull bones (craniosynostosis). This early fusion prevents the skull from growing normally and affects the shape of the head and face. In addition, a varied number of fingers and toes are fused together (syndactyly).
Many of the characteristic facial features of Apert syndrome result from the premature fusion of the skull bones. The head is unable to grow normally, which leads to a sunken appearance in the middle of the face, bulging and wide-set eyes, a beaked nose, and an underdeveloped upper jaw leading to crowded teeth and other dental problems. Shallow eye sockets can cause vision problems. Early fusion of the skull bones also affects the development of the brain, which can disrupt intellectual development. Cognitive abilities in people with Apert syndrome range from normal to mild or moderate intellectual disability.
Individuals with Apert syndrome have webbed or fused fingers and toes. The severity of the fusion varies; at a minimum, three digits on each hand and foot are fused together. In the most severe cases, all of the fingers and toes are fused. Less commonly, people with this condition may have extra fingers or toes (polydactyly). Additional signs and symptoms of Apert syndrome can include hearing loss, unusually heavy sweating (hyperhidrosis), oily skin with severe acne, patches of missing hair in the eyebrows, fusion of spinal bones in the neck (cervical vertebrae), and recurrent ear infections that may be associated with an opening in the roof of the mouth (a cleft palate).

  • Full Name Full Name Comment goes here.
    Are you sure you want to
    Your message goes here
    Be the first to comment
    Be the first to like this
No Downloads

Views

Total Views
734
On Slideshare
0
From Embeds
0
Number of Embeds
0

Actions

Shares
Downloads
22
Comments
0
Likes
0

Embeds 0

No embeds

Report content

Flagged as inappropriate Flag as inappropriate
Flag as inappropriate

Select your reason for flagging this presentation as inappropriate.

Cancel
    No notes for slide

Transcript

  • 1. http://www.fitango.com/categories.php?id=255Fitango EducationHealth TopicsApert Syndrome
  • 2. 1OverviewApert syndrome is a genetic disorder characterizedby the premature fusion of certain skull bones(craniosynostosis). This early fusion prevents theskull from growing normally and affects the shapeof the head and face. In addition, a varied numberof fingers and toes are fused together (syndactyly).
  • 3. 2OverviewMany of the characteristic facial features of Apertsyndrome result from the premature fusion of theskull bones. The head is unable to grow normally,which leads to a sunken appearance in the middleof the face, bulging and wide-set eyes, a beakednose, and an underdeveloped upper jaw leading tocrowded teeth and other dental problems. Shalloweye sockets can cause vision problems. Early fusionof the skull bones also affects the development ofthe brain, which can disrupt intellectual developm
  • 4. 3OverviewIndividuals with Apert syndrome have webbed orfused fingers and toes. The severity of the fusionvaries; at a minimum, three digits on each handand foot are fused together. In the most severecases, all of the fingers and toes are fused. Lesscommonly, people with this condition may haveextra fingers or toes (polydactyly). Additional signsand symptoms of Apert syndrome can includehearing loss, unusually heavy sweating(hyperhidrosis), oily skin with severe acne, patchesof missing hair in t
  • 5. 4SymptomsEarly closure of sutures between bones of theskull, noted by ridging along suturesFrequent ear infectionsFusion or severe webbing of the 2nd, 3rd, and 4thfingers, often called "mitten hands"
  • 6. 5SymptomsHearing lossLarge or late-closing soft spot on a babys skullPossible, slow intellectual development (variesfrom person to person)Prominent or bulging eyesSevere under-development of the mid-face
  • 7. 6SymptomsSkeletal (limb) abnormalitiesShort heightWebbing or fusion of the toesSeveral other syndromes can lead to a similarappearance of the face and head, but do notinclude the severe hand and foot problems ofApert syndrome. These similar syndromes include:
  • 8. 7SymptomsCarpenter syndrome (kleeblattschadel, cloverleafskull deformity)Crouzon disease (craniofacial dysostosis)Pfeiffer syndromeSaethre-Chotzen syndrome
  • 9. 8DiagnosisThe doctor will perform a physical exam. Hand,foot, and skull x-rays will be done. Hearing testsshould always be performed.Genetic testing can confirm the diagnosis of Apertsyndrome.
  • 10. 9TreatmentTreatment consists of surgery to correct abnormalbone growth. Children with this disorder should beexamined by a specialized craniofacial surgeryteam at a childrens medical center.A hearing specialist should be consulted if thereare hearing problems.
  • 11. 10CausesApert syndrome can be passed down throughfamilies (inherited). The syndrome is inherited asan autosomal dominant trait, which means thatonly one parent needs to pass on the faulty genefor a child to have the condition.Some cases may occur without a known familyhistory.
  • 12. 11CausesApert syndrome is caused by mutations in a genecalled fibroblast growth factor receptor 2. Thisgene defect causes some of the bony sutures ofthe skull to close too early, a conditioncalled craniosynostosis.
  • 13. 12PreventionGenetic counseling may be helpful if you have afamily history of this disorder and are planning tobecome pregnant. Your doctor can test your babyfor this disease during pregnancy.