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Isolated scaphocephaly

3 OMIM references -
3 associated genes
5 signs/symptoms

COMMON GENES: 1
COMMON SIGNS: 2

Isolated brachycephaly

2 OMIM references -
3 associated genes
12 signs/symptoms

Isolated scaphocephaly

Isolated brachycephaly

ALX4	(UniProt - OMIM)		FGFR3	(UniProt - OMIM)
ERF	(UniProt - OMIM)		TCF12	(UniProt - OMIM)
TWIST1	(UniProt - OMIM)		TWIST1	(UniProt - OMIM)


COMMON GENES	TWIST1

Citations in the biomedical literature:

Isolated scaphocephaly		Isolated brachycephaly
	Synonym(s): - Isolated dolichocephaly - Non-syndromic sagittal synostosis		Synonym(s): - Non-syndromic bicornal synostosis

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease		Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare eye disease - 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: 1-9 / 100 000 Average age onset: neonatal/infancy Average age of death: normal Type of inheritance: autosomal dominant

	External references: 3 OMIM references - No MeSH references		External references: 2 OMIM references - No MeSH references


COMMON SIGNS	- Autosomal dominant inheritance - Cranial hypertension

Isolated scaphocephaly		Isolated brachycephaly
	Very frequent - Dolichocephaly / scaphocephaly Occasional - Frontal bossing / prominent forehead - Prominent occiput / occipital bossing		Very frequent - Brachycephaly / flat occiput - Broad forehead Frequent - Flat supraorbital ridge - Hearing loss / hypoacusia / deafness - Proptosis / exophthalmos Occasional - Hypertelorism - Intellectual deficit / mental / psychomotor retardation / learning disability - Metacarpal anomalies / Archibald's sign - Mid-facial hypoplasia / short / small midface - Short hand / brachydactyly