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Isolated scaphocephaly

3 OMIM references -
3 associated genes
5 signs/symptoms

COMMON GENES: 1
COMMON SIGNS: 1

Familial lambdoid synostosis

1 OMIM reference -
1 associated gene
16 signs/symptoms

Isolated scaphocephaly

Familial lambdoid synostosis

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


COMMON GENES	ERF

Citations in the biomedical literature:

Isolated scaphocephaly		Familial lambdoid synostosis
	Synonym(s): - Isolated dolichocephaly - Non-syndromic sagittal synostosis		Synonym(s): (no synonyms)

	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 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: (no data available)

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


COMMON SIGNS	- Frontal bossing / prominent forehead

Isolated scaphocephaly		Familial lambdoid synostosis
	Very frequent - Dolichocephaly / scaphocephaly Occasional - Autosomal dominant inheritance - Cranial hypertension - Prominent occiput / occipital bossing		Very frequent - Brachycephaly / flat occiput - Craniostenosis / craniosynostosis / sutural synostosis - Plagiocephaly Frequent - External ear anomalies - Hypotonia Occasional - Blepharophimosis / short palpebral fissures - Downturned mouth - Facial structural asymmetry / facial hemiatrophy / facial hemihypertrophy - Grooved / dimple chin - Hydrocephaly - Hypertonia / spasticity / rigidity / stiffness - Intellectual deficit / mental / psychomotor retardation / learning disability - Prominent / bat ears - Round ear - Telecanthus / canthal dystopy