Pallister-Hall syndrome

MONDO:0007804

Pallister-Hall syndrome (PHS), a pleiotropic autosomal dominant malformative disorder, is characterized by hypothalamic hamartoma, pituitary dysfunction, bifid epiglottis, polydactyly, and, more rarely, renal abnormalities and genitourinary malformations.

Also known as: PHS, Pallister Hall syndrome, Pallister-Hall syndrome, ano-cerebro-digital syndrome, hypothalamic hamartoblastoma syndrome, hypothalamic hamartoblastoma, hypopituitarism, imperforate anus, and postaxial polydactyly

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