Pallister-Hall syndrome

Orpha code: 672OMIM code: 146510

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.

Disease data
Classification

Malformation syndrome

Synonyms
Hypothalamic hamartoblastoma syndrome
Zespół hamartoblastoma podwzgórza
ORPHA code
672
OMIM code
146510
ICD10 code
Q87.8
ICD11 code
LD2F.1Y

No additional description.

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