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Start free with EleplanPallister-Hall syndrome
ORPHA:672Malformation syndrome
Also called Hypothalamic hamartoblastoma syndrome
What it is
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.
Key facts
- Prevalence
- <1 / 1 000 000
- Age of onset
- Antenatal, Infancy, Neonatal
- Inheritance
- Autosomal dominant, Not applicable
- Classified as
- Malformation syndrome
Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.
Signs and symptoms
Common30–79%
46- 3-4 finger cutaneous syndactyly
- Abnormal basal ganglia MRI signal intensity
- Abnormal prolactin level
- Accessory oral frenulum
- Adrenocorticotropic hormone deficiency
- Anal atresiaDiagnostic criterion
- Anteverted nares
- Atresia of the external auditory canal
- Bifid uvula
- Bilateral postaxial polydactylyDiagnostic criterion
- Brachydactyly
- Broad thumb
- Central adrenal insufficiency
- Depressed nasal ridge
- Downslanted palpebral fissures
- Gonadotropin deficiency
- Hemivertebrae
- Hip dislocation
- Hypertelorism
- HypopituitarismDiagnostic criterion
- Intrauterine growth retardation
- Laryngeal cleft
- Macrocephaly
- Mesoaxial polydactylyDiagnostic criterion
- Microphthalmia
- Microtia
- Nail dysplasia
- Natal tooth
- Pituitary hypothyroidism
- Polydactyly affecting the 3rd finger
- Polydactyly affecting the 4th finger
- Postaxial hand polydactylyDiagnostic criterion
- Posteriorly rotated ears
- Ptosis
- Radial bowing
- Radial head subluxation
- Recurrent upper and lower respiratory tract infections
- Renal dysplasia
- Rib fusion
- Secondary growth hormone deficiency
- Short 4th metacarpal
- Short nose
- Short stature
- Skeletal dysplasia
- Supernumerary metacarpal bones
- Toe syndactyly
Sometimes5–29%
38- Abnormal corpus callosum morphology
- Abnormal lung lobation
- Adrenal hypoplasia
- Atrial septal defect
- Atrioventricular canal defect
- Auricular tag
- Bifid epiglottisDiagnostic criterion
- Broad toe
and 30 more in this range
These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.
Gene
ICD-10 codes
ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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