Pallister-Hall syndrome
Findings
No curated finding names Pallister-Hall syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
Definition from the Mondo Disease Ontology (MONDO:0007804), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Congenital onset · Neonatal death
HPO, annotations 2026-09-02
Features
123 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Hypothalamic hamartomaHPOHP:0002444
- 11 of 11 reported patients
- Obligate (100% of cases)
- Shortening of all distal phalanges of the fingersHPOHP:0006118
- 12 of 13 reported patients
- Postaxial polydactylyHPOHP:0100259
- 17 of 20 reported patients
- Y-shaped metacarpalsHPOHP:0006042
- 14 of 17 reported patients
- Y-shaped metatarsalsHPOHP:0010567
- 14 of 17 reported patients
- Bifid epiglottisHPOHP:0010564
- 13 of 18 reported patients
- Occasional (5% to 29% of cases)
Show the remaining 111
- Anal atresiaHPOHP:0002023
- 9 of 20 reported patients
- Frequent (30% to 79% of cases)
- Anteverted naresHPOHP:0000463
- Frequent (30% to 79% of cases)
- Atresia of the external auditory canalHPOHP:0000413
- Frequent (30% to 79% of cases)
- Bifid uvulaHPOHP:0000193
- Frequent (30% to 79% of cases)
- Bilateral postaxial polydactylyHPOHP:0006136
- Frequent (30% to 79% of cases)
- BrachydactylyHPOHP:0001156
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- GLI3HGNC:4319
- Definitive · Ambry Genetics · Autosomal dominant · 2023
- Definitive · Laboratory for Molecular Medicine · Autosomal dominant · 2020
- Definitive · G2P · Autosomal dominant · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
5 names
Resolves to: Pallister-Hall syndrome
- Also called
- ano-cerebro-digital syndromehypothalamic hamartoblastoma syndromehypothalamic hamartoblastoma, hypopituitarism, imperforate anus, and postaxial polydactylyPallister Hall syndromePHS