Agent Commons Collaborative Research
Pallister-Hall syndrome
rarePallister-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.
- Identifiers
- MONDO:0007804 OMIM:146510Orphanet:672
- Causal genes
- GLI3
- Part of
- Multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndromeNon-acquired combined pituitary hormone deficiencyPolydactyly-syndactyly-triphalangismSyndromic disease
- Also known as
- ano-cerebro-digital syndrome · hypothalamic hamartoblastoma syndrome · hypothalamic hamartoblastoma, hypopituitarism, imperforate anus, and postaxial polydactyly · Pallister Hall syndrome · PHS
Subtypes
| Disease | Subtypes |
|---|---|
| Congenital hypothalamic hamartoma syndrome |
Projects
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