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Isolated brachycephaly

2 OMIM references -
3 associated genes
12 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 2

Acrocallosal syndrome

1 OMIM reference -
2 associated genes
19 signs/symptoms

Isolated brachycephaly

Acrocallosal syndrome

FGFR3	(UniProt - OMIM)		GLI3	(UniProt - OMIM)
TCF12	(UniProt - OMIM)		KIF7	(UniProt - OMIM)
TWIST1	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	TWIST1	(0.52)	GLI3

Citations in the biomedical literature:

Isolated brachycephaly		Acrocallosal syndrome
	Synonym(s): - Non-syndromic bicornal synostosis		Synonym(s): - ACS

	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 - Rare neurologic 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: (no data available)

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


COMMON SIGNS	- Hypertelorism - Intellectual deficit / mental / psychomotor retardation / learning disability

Isolated brachycephaly		Acrocallosal syndrome
	Very frequent - Brachycephaly / flat occiput - Broad forehead Frequent - Cranial hypertension - Flat supraorbital ridge - Hearing loss / hypoacusia / deafness - Proptosis / exophthalmos Occasional - Autosomal dominant inheritance - Metacarpal anomalies / Archibald's sign - Mid-facial hypoplasia / short / small midface - Short hand / brachydactyly		Very frequent - Autosomal recessive inheritance - Corpus callosum / septum pellucidum total / partial agenesis - Macrocephaly / macrocrania / megalocephaly / megacephaly - Postaxial polydactyly (hand) Frequent - Dandy-Walker anomaly - Fingerlike / triphalangeal thumb - Prominent occiput / occipital bossing - Sloping forehead Occasional - Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia - Clavicle absent / abnormal - Diaphragmatic hernia / defect / agenesis - Hypospadias / epispadias / bent penis - Inguinal / inguinoscrotal / crural hernia - Large fontanelle / delayed fontanelle closure - Sensorineural deafness / hearing loss - Tall stature / gigantism / growth acceleration - Undescended / ectopic testes / cryptorchidia / unfixed testes