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Isolated brachycephaly

2 OMIM references -
3 associated genes
12 signs/symptoms

COMMON GENES: 1
COMMON SIGNS: 8

Muenke syndrome

1 OMIM reference -
1 associated gene
18 signs/symptoms

Isolated brachycephaly

Muenke syndrome

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


COMMON GENES	FGFR3

Citations in the biomedical literature:

Isolated brachycephaly		Muenke syndrome
	Synonym(s): - Non-syndromic bicornal 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: 1-9 / 100 000 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: autosomal dominant

	External references: 2 OMIM references - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: C537369


COMMON SIGNS	- Autosomal dominant inheritance - Brachycephaly / flat occiput - Cranial hypertension - Hypertelorism - Intellectual deficit / mental / psychomotor retardation / learning disability - Mid-facial hypoplasia / short / small midface - Proptosis / exophthalmos - Short hand / brachydactyly

Isolated brachycephaly		Muenke syndrome
	Very frequent - Broad forehead Frequent - Flat supraorbital ridge - Hearing loss / hypoacusia / deafness Occasional - Metacarpal anomalies / Archibald's sign		Frequent - Carpal bones fusion / synostosis - Cone epiphyses / epiphysis - High vaulted / narrow palate - Plagiocephaly - Ptosis - Sensorineural deafness / hearing loss - Short foot / brachydactyly of toes - Tarsal anomaly / fusion / synostosis Occasional - Hydrocephaly - Macrocephaly / macrocrania / megalocephaly / megacephaly