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