Show pageOld revisionsBacklinksBack to top This page is read only. You can view the source, but not change it. Ask your administrator if you think this is wrong. ====== Sotos Syndrome ====== ====Main Features==== * Distinctive Facial Features * Broad, prominent forehead with a dolichocephalic head shape, sparse frontotemporal hair,downslanting palpebral fissures, malar flushing, long and narrow face, tall chin <WRAP round box 60%> {{:sotos_syndrome.jpg |}} \\ From Reference 2 \\ </WRAP> * Learning disability * Overgrowth > 2 SD above the mean (98th percentile) * Tall stature * Macrocephaly ====Eye Findings==== * Strabismus * Nystagmus * Cataract * Refractive error * astigmatism * myopia * hyperopia * Optic atrophy * Retinal atrophy * Megalophthalmos ====Other Findings==== * Behavioral problems especially autism * Advance bone age * Cardiac anomalies * PDA, septal defects or more complex anomalies * Cerebral ventriculomegaly * Joint hyperlaxity with or without pes planus * Renal anomalies- most commonly VUR * Scoliosis * Seizures ====Etiology==== * Mutations in the NDS1 gene * 5q35 microdeletion encompasing NDS1 ====Resources==== - [[https://www.ncbi.nlm.nih.gov/books/NBK1479/|GeneReviews Article]] - [[https://1drv.ms/b/c/31d83ae8e55e0542/ERAf3o98dU5Pg3q0-0ZGuNABGuqSz-t3L3IZ3NkB5FygsQ?e=CHzckN |Tatton-Brown K. et al. Clinical Features of NSD1-Positive Sotos Syndrome. Clinical Dysmorphology 2004;13:199-204.]] {{tag>syndrome}} syndrome