Pallister-Hall Syndrome

**Definition:** A pleiotropic disorder of human development that comprises hypothalamic HAMARTOMA; central and postaxial POLYDACTYLY; bifid EPIGLOTTIS; ANAL ATRESIA; and renal and other abnormalities. This disorder is associated with FRAMESHIFT MUTATIONS in the GLI3 gene which encodes the GLI3 protein, a KRUPPEL-LIKE TRANSCRIPTION FACTORS family member.

**Tree numbers:** - C04.445.622 - C04.588.614.250.195.885.500.299 - C05.660.585.600.374 - C10.228.140.211.885.500.299 - C10.228.140.617.477.299 - C10.551.240.250.700.500.249 - C16.131.077.690 - C16.131.621.585.600.374

**Synonyms:** - Hypothalamic Hamartoblastoma, Hypopituitarism, Imperforate Anus, and Postaxial Polydactyly - Cerebroacrovisceral Early Lethality Complex - Hall-Pallister Syndrome - Hypothalamic Hamartoblastoma Syndrome - CAVE Complex