Conditions / Syndrome
Pallister-Hall syndrome
info · Syndrome
A syndrome that is characterized by hypothalamic hamartoma, pituitary dysfunction, central polydactyly, and visceral malformations and has_material_basis_in autosomal dominant heterozygous mutation in the GLI3 gene on chromosome 7p14.
Signs and symptoms
- Hypothalamic hamartoma
- Shortening of all distal phalanges of the fingers
- Postaxial polydactyly
- Y-shaped metatarsals
- Y-shaped metacarpals
- Bifid epiglottis
- Nail dysplasia
- Growth delay
- Laryngeal cleft
- Short stature