Pallister-Hall Syndrome

**Semantic type:** Disease or Syndrome

**Definition:** A very rare autosomal dominant inherited disorder caused by mutations in the GLI3 gene. It is characterized by a spectrum of abnormalities which include polydactyly, cutaneous syndactyly, bifid epiglottis, hypothalamic hamartoma, and laryngotracheal cleft.

**Synonyms:** - Ano-cerebro-digital Syndrome - Hypothalamic Hamartoblastoma Syndrome