raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:672

Pallister-Hall syndrome

Synonyms: Hypothalamic hamartoblastoma syndrome

Type
Malformation syndrome
Group
Disorder
Inheritance
Autosomal dominant, Not applicable
Age of onset
Antenatal, Infancy, Neonatal
Status
active

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.

1

Names in Orphadata languages

12 of 12 languages
LangNameSynonyms
enPallister-Hall syndromeHypothalamic hamartoblastoma syndrome
frSyndrome de Pallister-HallSyndrome d'hamartoblastome hypothalamique-polydactylie
dePallister-Hall-SyndromHamartom im Hypothalamusbereich - Polydaktylie
esSíndrome de Pallister-Hall
itSindrome di Pallister-HallAmartoblastoma ipotalamico - polidattilia
nlSyndroom van Pallister-HallHypothalamisch hamartoblastoom-syndroom
ptPallister-Hall syndromeSíndrome de hamartoblastoma hipotalâmico
plZespół Pallistera i HallZespół hamartoblastoma podwzgórza
csPallisterův-Hallův syndromSyndrom hamartoblastomu hypotalamu · Pallister-Hallův syndrom
ukСиндром Паллістера-ХоллаСиндром гіпоталамічної гамартобластоми
zhPallister-Hall综合征下丘脑错构母细胞瘤综合征
trPallister-Hall sendromuHipotalamik hamartoblastom sendromu

Definition in:

2

Cross-references

qualifier = Orphanet mapping relation
SourceCodeQualifierICD relationValidation
OMIM146510Evalidated
ICD-10D33.0NTBTattributedvalidated
ICD-11LD2F.1YNTBTindexvalidated
MONDO0007804Evalidated
MeSHD054975Evalidated
UMLSC0265220Evalidated
GARD7305Evalidated
MedDRA10089178Evalidated

E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.

3

Classification

Preferential parent (Orphanet linearisation):

Parents in the classifications (7):

No children.

Codes that Orphanet moved or referred to this one:

4

Genes

1 direct
GeneAssociationStatusHGNCEnsemblOMIMLocusNameSource of validation
GLI3Disease-causing germline mutation(s) inAssessedHGNC:4319ENSG000001065711652407p14.1GLI family zinc finger 320301638[PMID]
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Prevalence and incidence

2 records
TypeClassValueAreaQualificationValidationSource
Cases/families100 casesWorldwideCase(s)Validated20301638[PMID]
Point prevalence<1 / 1 000 000—WorldwideClass onlyValidatedORPHANET_20301638[PMID]

Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.

6

HPO phenotypes

100 annotations · validated 2017-12-04
HPOTerm (as annotated by Orphanet)Diagnostic
Obligate (100%)
HP:0002444Hypothalamic hamartomaDiagnostic criterion
Frequent (79-30%)
HP:00119393-4 finger cutaneous syndactyly
HP:0012751Abnormal basal ganglia MRI signal intensity
HP:0040086Abnormal prolactin level
HP:0000191Accessory oral frenulum
HP:0011748Adrenocorticotropic hormone deficiency
HP:0002023Anal atresiaDiagnostic criterion
HP:0000463Anteverted nares
HP:0000413Atresia of the external auditory canal
HP:0000193Bifid uvula
HP:0006136Bilateral postaxial polydactylyDiagnostic criterion
HP:0001156Brachydactyly
HP:0011304Broad thumb
HP:0011734Central adrenal insufficiency
HP:0000457Depressed nasal ridge
HP:0000494Downslanted palpebral fissures
HP:0008213Gonadotropin deficiency
HP:0002937Hemivertebrae
HP:0002827Hip dislocation
HP:0000316Hypertelorism
HP:0040075HypopituitarismDiagnostic criterion
HP:0001511Intrauterine growth retardation
HP:0008751Laryngeal cleft
HP:0000256Macrocephaly
HP:0100260Mesoaxial polydactylyDiagnostic criterion
HP:0000568Microphthalmia
HP:0008551Microtia
HP:0002164Nail dysplasia
HP:0000695Natal tooth
HP:0008245Pituitary hypothyroidism
HP:0009958Polydactyly affecting the 3rd finger
HP:0009971Polydactyly affecting the 4th finger
HP:0001162Postaxial hand polydactylyDiagnostic criterion
HP:0000358Posteriorly rotated ears
HP:0000508Ptosis
HP:0002986Radial bowing
HP:0003048Radial head subluxation
HP:0200117Recurrent upper and lower respiratory tract infections
HP:0000110Renal dysplasia
HP:0000902Rib fusion
HP:0008240Secondary growth hormone deficiency
HP:0010044Short 4th metacarpal
HP:0003196Short nose
HP:0004322Short stature
HP:0002652Skeletal dysplasia
HP:0005917Supernumerary metacarpal bones
HP:0001770Toe syndactyly
Occasional (29-5%)
HP:0001273Abnormal corpus callosum morphology
HP:0002101Abnormal lung lobation
HP:0000835Adrenal hypoplasia
HP:0001631Atrial septal defect
HP:0006695Atrioventricular canal defect
HP:0030021Auricular tag
HP:0010564Bifid epiglottisDiagnostic criterion
HP:0001837Broad toe
HP:0001321Cerebellar hypoplasia
HP:0000453Choanal atresia
HP:0410030Cleft lip
HP:0000175Cleft palate
HP:0001680Coarctation of aorta
HP:0000028Cryptorchidism
HP:0008734Decreased testicular size
HP:0000086Ectopic kidney
HP:0000273Facial grimacing
HP:0010821Focal emotional seizure with laughing
HP:0001263Global developmental delay
HP:0001360Holoprosencephaly
HP:0000047Hypospadias
HP:0000023Inguinal hernia
HP:0001520Large for gestational age
HP:0000171Microglossia
HP:0000054Micropenis
HP:0000308Microretrognathia
HP:0007601Midline facial capillary hemangioma
HP:0012165Oligodactyly
HP:0001845Overlapping toe
HP:0000871Panhypopituitarism
HP:0000749Paroxysmal bursts of laughter
HP:0001643Patent ductus arteriosus
HP:0000826Precocious puberty
HP:0008207Primary adrenal insufficiency
HP:0005990Thyroid hypoplasia
HP:0001537Umbilical hernia
HP:0000122Unilateral renal agenesis
HP:0001629Ventricular septal defect
Very rare (<4-1%)
HP:0000062Ambiguous genitalia
HP:0011026Aplasia/Hypoplasia of the vagina
HP:0008684Aplasia/hypoplasia of the uterus
HP:0002139Arrhinencephaly
HP:0010958Bilateral renal agenesis
HP:0005684Distal arthrogryposis
HP:0030010Hydrometrocolpos
HP:0001249Intellectual disability
HP:0001562Oligohydramnios
HP:0030431Osteochondroma
HP:0002093Respiratory insufficiency
HP:0030799Scaphocephaly
HP:0000046Small scrotum
HP:0001883Talipes
HP:0000243Trigonocephaly

Run the differential on the 1 obligate / very frequent terms

Annotation source: 24736735[PMID]_18057317[PMID]_26604140[PMID]_14708104[PMID]_21108399[PMID]_11241471[PMID]_9192261[PMID]_8591673[PMID]_8182722[PMID]_2596511[PMID]_7211952[PMID]_8914745[PMID]

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Sources for this card