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Pallister-Hall syndrome

1 OMIM reference -
2 associated genes
39 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1

Isolated scaphocephaly

3 OMIM references -
3 associated genes
5 signs/symptoms

Pallister-Hall syndrome

Isolated scaphocephaly

GLI3	(UniProt - OMIM)		ALX4	(UniProt - OMIM)
TCF4	(UniProt - OMIM)		ERF	(UniProt - OMIM)
			TWIST1	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	GLI3	(0.52)	TWIST1

Citations in the biomedical literature:

Pallister-Hall syndrome		Isolated scaphocephaly
	Synonym(s): - Hypothalamic hamartoblastoma syndrome		Synonym(s): - Isolated dolichocephaly - Non-syndromic sagittal synostosis

	Classification (Orphanet): - Rare abdominal surgical disease - Rare bone disease - Rare developmental defect during embryogenesis - Rare endocrine disease - Rare genetic disease - Rare renal disease		Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease

	Classification (ICD10): - Neoplasms -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: 1-5 / 10 000 Average age onset: neonatal/infancy Average age of death: normal Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - 1 MeSH reference: D054975		External references: 3 OMIM references - No MeSH references


COMMON SIGNS	- Autosomal dominant inheritance

Pallister-Hall syndrome		Isolated scaphocephaly
	Very frequent - 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		Very frequent - Dolichocephaly / scaphocephaly Occasional - Cranial hypertension - Frontal bossing / prominent forehead - Prominent occiput / occipital bossing