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Pallister-Hall syndrome
1 OMIM reference -
2 associated genes
89 connected diseases
39 signs/symptoms
Disease Type of connection
Autosomal dominant nonsyndromic intellectual deficit
Acrocallosal syndrome
Fuchs endothelial corneal dystrophy
Greig cephalopolysyndactyly syndrome
Pitt-Hopkins syndrome
Polysyndactyly, bilateral
Polysyndactyly, unilateral
Postaxial polydactyly type A, bilateral
Postaxial polydactyly type A, unilateral
Postaxial polydactyly type B, bilateral
Postaxial polydactyly type B, unilateral
Primary sclerosing cholangitis
Familial isolated hyperparathyroidism
Familial parathyroid adenoma
Miller-Dieker syndrome
Precursor T-cell acute lymphoblastic leukemia
Craniopharyngioma
Desmoid tumor
Hepatocellular carcinoma, childhood-onset
Pilomatrixoma
Acute myeloid leukemia with t(8;16)(p11;p13) translocation
Complete androgen insensitivity syndrome
Familial hypospadias
Kennedy disease
Partial androgen insensitivity syndrome
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
Rubinstein-Taybi syndrome due to CREBBP mutations
Alobar holoprosencephaly
Catecholaminergic polymorphic ventricular tachycardia
Isolated Dandy-Walker malformation with hydrocephalus
Isolated Dandy-Walker malformation without hydrocephalus
Lobar holoprosencephaly
Microform holoprosencephaly
Midline interhemispheric variant of holoprosencephaly
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Semilobar holoprosencephaly
Septopreoptic holoprosencephaly
1p36 deletion syndrome
Shprintzen-Goldberg syndrome
Double outlet right ventricle
Isolated congenitally uncorrected transposition of the great arteries
Situs ambiguus
Haddad syndrome
Ondine syndrome
Split hand-split foot malformation
Desmoplastic / nodular medulloblastoma
Familial multiple meningioma
Medulloblastoma with extensive nodularity
Papillary or follicular thyroid carcinoma
Hyperparathyroidism - jaw tumor syndrome
Parathyroid carcinoma
Blepharophimosis-intellectual deficit syndrome, MKB type
FG syndrome type 1
Multiple endocrine neoplasia type 1
X-linked intellectual deficit with marfanoid habitus
X-linked non-syndromic intellectual deficit
Zollinger-Ellison syndrome
Acute myeloid leukemia with t(8;21)(q22;q22) translocation
17p13.3 microduplication syndrome
Acute promyelocytic leukemia
Amyotrophic lateral sclerosis
Anophthalmia / microphthalmia - esophageal atresia
Autosomal agammaglobulinemia
Colobomatous microphthalmia
Distal 17p13.3 microdeletion syndrome
Frontotemporal dementia with motor neuron disease
Isolated anophthalmia - microphthalmia
Juvenile amyotrophic lateral sclerosis
Myxofibrosarcoma
Myxoid / round cell liposarcoma
Neuroblastoma
Precursor B-cell acute lymphoblastic leukemia
Septo-optic dysplasia
Young adult-onset Parkinsonism
Familial isolated arrhythmogenic ventricular dysplasia, biventricular form
Familial isolated arrhythmogenic ventricular dysplasia, left dominant form
Familial isolated arrhythmogenic ventricular dysplasia, right dominant form
Lethal acantholytic epidermolysis bullosa
Naxos disease
Aneurysm - osteoarthritis syndrome
Familial pancreatic carcinoma
Familial thoracic aortic aneurysm and aortic dissection
Generalized juvenile polyposis / juvenile polyposis coli
Hereditary hemorrhagic telangiectasia
Isolated brachycephaly
Isolated scaphocephaly
MODY syndrome
Myhre syndrome
Saethre-Chotzen syndrome
Synonym(s):
- Hypothalamic hamartoblastoma syndrome
Classification (Orphanet):
- Rare abdominal surgical disease
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare endocrine disease
- Rare genetic disease
- Rare renal disease
Classification (ICD10):
- Neoplasms -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
1 MeSH reference: D054975
Gene symbol UniProt reference OMIM reference
GLI3 P10071165240
TCF4 P15884602272
Very frequent
- Autosomal dominant inheritance
- Dysplastic / thick / grooved fingernails
- Dysplastic / thick / grooved toenails
- Hypothalamic-hypophyseal axis anomalies / hypothalamus / pituitary anomalies
- Intrauterine growth retardation
- Postaxial polydactyly (hand)

Frequent
- Absent lobe / lung / segmentation defect / abnormal lobulation / sequestration
- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula
- Cortico-adrenal hypoplasia / insufficiency
- Depressed nasal bridge
- Hypothalamic-hypophyseal axis functional anomalies / hypopituitarism
- Imperforate anus / rectum atresia / agenesis / recto-vaginal / vesical / perineal fistula
- Low set ears / posteriorly rotated ears
- Mesomelic micromelia
- Microglossia / aglossia / hypoglossia / tongue hypoplasia
- Micrognathia / retrognathia / micrognathism / retrognathism
- Micropenis / small penis / agenesis
- Multicystic kidney / renal dysplasia
- Short / small nose
- Syndactyly of fingers / interdigital palm
- Tracheo-esophageal fistula / esophageal atresia / stenosis
- Undescended / ectopic testes / cryptorchidia / unfixed testes

Occasional
- Abnormal vertebral size / shape
- Agenesis / hypoplasia / aplasia of kidneys
- Cardiac valvulopathy
- Corpus callosum / septum pellucidum total / partial agenesis
- Dolichocolon / megacolon / megadolichocolon / Hirschsprung's disease
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Oral synechiae / abnormal frenulae
- Patent ductus arteriosus
- Postaxial polydactyly of toes / fifth supernumerary toe
- Precocious puberty
- Psychic / behavioural troubles
- Seizures / epilepsy / absences / spasms / status epilepticus
- Short hand / brachydactyly
- Stillbirth / neonatal death
- Syndactyly of toes
- Thyroid anomalies
- Ventricular septal defect / interventricular communication