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Isolated scaphocephaly

3 OMIM references -
3 associated genes
5 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1

8p23.1 microdeletion syndrome

1 associated gene
37 signs/symptoms

Isolated scaphocephaly

8p23.1 microdeletion syndrome

ALX4	(UniProt - OMIM)		GATA4	(UniProt - OMIM)
ERF	(UniProt - OMIM)
TWIST1	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	ALX4	(0.63)	GATA4

Citations in the biomedical literature:

Isolated scaphocephaly		8p23.1 microdeletion syndrome
	Synonym(s): - Isolated dolichocephaly - Non-syndromic sagittal synostosis		Synonym(s): - Del(8)(p23.1) - Monosomy 8p23.1

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare urogenital disease

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

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

	External references: 3 OMIM references - No MeSH references		External references: No OMIM references No MeSH references


COMMON SIGNS	- Autosomal dominant inheritance

Isolated scaphocephaly		8p23.1 microdeletion syndrome
	Very frequent - Dolichocephaly / scaphocephaly Occasional - Cranial hypertension - Frontal bossing / prominent forehead - Prominent occiput / occipital bossing		Very frequent - Insterstitial / subtelomeric microdeletion / deletion - Intellectual deficit / mental / psychomotor retardation / learning disability - Intrauterine growth retardation Frequent - Atrioventricular canal - Broad nose / nasal bridge - Cardiac septal defect - Congenital cardiac anomaly / malformation / cardiopathy - Epicanthic folds - External ear anomalies - Failure to thrive / difficulties for feeding in infancy / growth delay - High forehead - High vaulted / narrow palate - Humour troubles / anxiety / depression / apathy / euphoria / irritability - Hyperactivity / attention deficit - Hypospadias / epispadias / bent penis - Microcephaly - Narrow forehead - Pulmonary artery stenosis / absence / hypoplasia of the pulmonary branches - Seizures / epilepsy / absences / spasms / status epilepticus - Short neck - Short stature / dwarfism / nanism - Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia - Undescended / ectopic testes / cryptorchidia / unfixed testes - Weight loss / loss of appetite / break in weight curve / general health alteration Occasional - Broad / bifid big toe - Broad / bifid thumb - Cardiomyopathy / hypertrophic / dilated - Deepset eyes / enophthalmos - Diaphragmatic hernia / defect / agenesis - Generalized obesity - Hypoplastic aorta / coarctation / stenosis / anomaly / aortic arch interruption - Hypoplastic left heart / ventricle - Patent ductus arteriosus - Proximally set thumb - Tetralogy of Fallot / trilogy of Fallot - Transposition of great vessels