Pallister-Hall syndrome
Pallister-Hall syndrome
Definition
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 ano-cerebro-digital syndrome, hypothalamic hamartoblastoma syndrome, hypothalamic hamartoblastoma, hypopituitarism, imperforate anus, and postaxial polydactyly, Pallister Hall syndrome, Pallister-Hall syndrome, PHS — per MONDO