craniofacial anomalies down , apert's and gorlin goltz syndrome
What is Down syndrome? What are the chromosome basics of Down syndrome? How do the extra genes lead to Down syndrome? What are the risk factors for conceiving a child with Down syndrome? What are the characteristic features and symptoms of Down syndrome? What type of prenatal screening is available for Down syndrome? How is the diagnosis of Down syndrome made? How is Down syndrome managed?
• “A genetic condition involving the presence of a 21st chromosome’’
Types of Down Syndrome 1. An extra (21) chromosome-this type of case is called trisomy 21 2. Translocation, in which 1 2 a chromosome is attached 3 to another one. 3. Mosaicism, in which some cells have 47 Purple-Trisomy 21 (95%) chromosomes Red-Translocation (4%) Yellow-Mosaicism (1%)
The only well known risk factor for conceiving a child with Down syndrome is advanced maternal age.
Mothers age at conception Risk of Down syndrome 25 years 1 in 1,250 30 years 1 in 1,000 35 years 1 in 400 40 years 1 in 100 45 years 1 in 30
It is recognized from the characteristic phenotypic features. Confirmed by Karyotype.
hypothyroidism Congenital Heart leukemia Defects Down syndrome GI Early malformationsAlzheimer’s (celiac disease disease Hirschsprung Disease) Opthalmic Disorders Hearing loss (glaucoma Congenital Cataracts)
1. Growth – Measurements should be plotted on the appropriate growth chart for children with DS. This will help in prevention of obesity and early diagnosis of celiac disease and hypothyroidism.2. Cardiac disease – All newborns should be evaluated by cardiac ECHO for CHD in consultation with pediatric cardiologist.3. Hearing – Screening to be done in the newborn period, every 6 months until 3 yrs of age and then annually.
4. Eye disorders - An eye exam should be performed in the newborn period or at least before 6 months of age to detect strabismus, nystagmus, and cataracts.5. Thyroid Function – Should be done in newborn period and should be repeated at six and 12 months , and then annually.6. Celiac Disease – Screening should begin at 2 yrs. Repeat screening if signs/Sx develop.
7.Hematology – CBC with differential at birth to evaluate for polycythemia as well as WBC. 8.Special education. 9.Speech therapy
“ A malformation syndrome characterized by a high short skull, underdevelopment of midface , soft tissue and bony (‘mitten glove’) fusion of neck vertebrae and mental retardation.Synonym : acrocephalosyndac tyly
2 point mutation in the fibroblast growth factor receptor 2 gene
Craniosynostosis High steep forehead and ocular hypertelorism Ear infectionsProgressive synostosisof bones in the feet Visual losshands and vertebrae
Palatal anamoliesAnkylosis of jointsMaxillary hypoplasia Middle 3rd of face is retruded
Gingival thickening which results in delayed eruption Trapezoid shaped appearance to the lips Cleft of soft palate Bifid uvula V shaped arch Crowding
Physical exam ofHand and foot. MRI study DNA Analysis for FGFR 2.
Surgical Skull deformities are addressed in infancy Orbital and facial deformities are corrected during early childhood Limb and jaw deformities are addressed duringaldolescence
DEFINITIONGoltz syndrome, also known as focal dermal hypoplasia or Goltz-Gorli syndrome, is a rare form of an abnormal skin condition that is believed to be a dominant, X- linked trait.
• SKIN• localized areas of malformed skin(skin lesions).• lack color (pigmentation) in the affected areas or linear pigmentation).• Fatty deposits (papillomas) are usually present in areas oftypically sensitive skin, such as the gums, lips, tongue, armpits etc.• Nodules of yellowish fatty tissue can grow on the affected skin,particularly in skin folds.
Face Mild microcephaly Skull asymetric Scalp hair sparse and brittleEye Coloboma of the iris Nystagmus Conjuctival papillomas Retinal neovascularization