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Isolated scaphocephaly

3 OMIM references -
3 associated genes
5 signs/symptoms

COMMON GENES: 1

Potocki-Shaffer syndrome

1 OMIM reference -
3 associated genes
3 signs/symptoms

Isolated scaphocephaly

Potocki-Shaffer syndrome

ALX4	(UniProt - OMIM)		ALX4	(UniProt - OMIM)
ERF	(UniProt - OMIM)		EXT2	(UniProt - OMIM)
TWIST1	(UniProt - OMIM)		PHF21A	(UniProt - OMIM)


COMMON GENES	ALX4

Citations in the biomedical literature:

Isolated scaphocephaly		Potocki-Shaffer syndrome
	Synonym(s): - Isolated dolichocephaly - Non-syndromic sagittal synostosis		Synonym(s): - 11p11.2 deletion - Proximal 11p deletion syndrome

	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

	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: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: no data available Type of inheritance: unknown

	External references: 3 OMIM references - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: C538356

Isolated scaphocephaly		Potocki-Shaffer syndrome
	Very frequent - Dolichocephaly / scaphocephaly Occasional - Autosomal dominant inheritance - Cranial hypertension - Frontal bossing / prominent forehead - Prominent occiput / occipital bossing		Very frequent - Exostoses - Intellectual deficit / mental / psychomotor retardation / learning disability - Poorly ossified skull / calvarium