Pallister-Hall Syndrome
Synonyms
CAVE Complex
CAVE Complices
Cerebroacrovisceral Early Lethality Complex
Complex, CAVE
Complices, CAVE
Hall Pallister Syndrome
Hall-Pallister Syndrome
Hamartoblastoma Syndrome, Hypothalamic
Hamartoblastoma Syndromes, Hypothalamic
Hypothalamic Hamartoblastoma Syndrome
Hypothalamic Hamartoblastoma Syndromes
Hypothalamic Hamartoblastoma, Hypopituitarism, Imperforate Anus, and Postaxial Polydactyly
Pallister Hall Syndrome
Syndrome, Hall-Pallister
Syndrome, Hypothalamic Hamartoblastoma
Syndrome, Pallister-Hall
Syndromes, Hypothalamic Hamartoblastoma
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.