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| sotos_syndrome [2025/07/01 22:53] – created Scott Larson | sotos_syndrome [2025/07/01 23:13] (current) – [Main Features] Scott Larson | ||
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| ====== Sotos Syndrome ====== | ====== Sotos Syndrome ====== | ||
| + | ====Main Features==== | ||
| + | * Distinctive Facial Features | ||
| + | * Broad, prominent forehead with a dolichocephalic head shape, sparse frontotemporal hair, | ||
| + | <WRAP round box 60%> | ||
| + | {{: | ||
| + | From Reference 2 \\ | ||
| + | </ | ||
| + | * 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:// | ||
| + | - [[https:// | ||
| + | {{tag> | ||