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.
Also Known As:
CAVE Complex; Cerebroacrovisceral Early Lethality Complex; Hall-Pallister Syndrome; Hypothalamic Hamartoblastoma Syndrome; Hypothalamic Hamartoblastoma, Hypopituitarism, Imperforate Anus, and Postaxial Polydactyly; CAVE Complices; Complex, CAVE; Complices, CAVE; Hall Pallister Syndrome; Hamartoblastoma Syndrome, Hypothalamic; Hamartoblastoma Syndromes, Hypothalamic; Hypothalamic Hamartoblastoma Syndromes; Pallister Hall Syndrome; Syndrome, Hall-Pallister; Syndrome, Hypothalamic Hamartoblastoma; Syndrome, Pallister-Hall; Syndromes, Hypothalamic Hamartoblastoma