Conditions / Syndrome
Goldberg-Shprintzen syndrome
info · Syndrome
A syndrome characterized by intellectual disability, specific facial gestalt and Hirschsprung's disease and that has_material_basis_in homozygous mutation in the KIAA1279 gene on chromosome 10q21.1.
Signs and symptoms
- Hypotonia
- Intellectual disability
- Global developmental delay
- Aganglionic megacolon
- Polymicrogyria
- Hypoplasia of the brainstem
- Corneal ulceration
- Sparse hair
- Thick vermilion border
- Bulbous nose
Also known as: Goldberg-Shprintzen megacolon syndrome