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Isolated brachycephaly

2 OMIM references -
3 associated genes
12 signs/symptoms

COMMON GENES: 2
COMMON SIGNS: 4

Isolated plagiocephaly

1 OMIM reference -
2 associated genes
11 signs/symptoms

Isolated brachycephaly

Isolated plagiocephaly

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


COMMON GENES	FGFR3 TCF12

Citations in the biomedical literature:

Isolated brachycephaly		Isolated plagiocephaly
	Synonym(s): - Non-syndromic bicornal synostosis		Synonym(s): - Non-syndromic unicoronal synostosis - Synostotic plagiocephaly

	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: 1-9 / 100 000 Average age onset: neonatal/infancy Average age of death: normal 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: 2 OMIM references - No MeSH references		External references: 1 OMIM reference - No MeSH references


COMMON SIGNS	- Autosomal dominant inheritance - Hearing loss / hypoacusia / deafness - Intellectual deficit / mental / psychomotor retardation / learning disability - Mid-facial hypoplasia / short / small midface

Isolated brachycephaly		Isolated plagiocephaly
	Very frequent - Brachycephaly / flat occiput - Broad forehead Frequent - Cranial hypertension - Flat supraorbital ridge - Proptosis / exophthalmos Occasional - Hypertelorism - Metacarpal anomalies / Archibald's sign - Short hand / brachydactyly		Very frequent - Facial structural asymmetry / facial hemiatrophy / facial hemihypertrophy - Frontal bossing / prominent forehead - Plagiocephaly Frequent - Abnormal eye movements / oculomotor disorder - Abnormal visual field / hemianopsia / hemianopia / scotoma / visual peripheral rim - Strabismus / squint Occasional - Macrocephaly / macrocrania / megalocephaly / megacephaly