ODCs

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2 OMIM references -
3 associated genes
12 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 3

1 OMIM reference -
1 associated gene
24 signs/symptoms

Isolated brachycephaly

Greig cephalopolysyndactyly syndrome


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

Citations in the biomedical literature:

Isolated brachycephaly		Greig cephalopolysyndactyly syndrome
	Synonym(s): - Non-syndromic bicornal synostosis		Synonym(s): - GCPS

	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: 1-9 / 1 000 000 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: C537300


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

Isolated brachycephaly		Greig cephalopolysyndactyly syndrome
	Very frequent - Brachycephaly / flat occiput - Broad forehead Frequent - Cranial hypertension - Flat supraorbital ridge - Hearing loss / hypoacusia / deafness - Proptosis / exophthalmos Occasional - Metacarpal anomalies / Archibald's sign - Mid-facial hypoplasia / short / small midface - Short hand / brachydactyly		Very frequent - Macrocephaly / macrocrania / megalocephaly / megacephaly - Postaxial polydactyly (hand) - Preaxial polydactyly of toes / big toe duplication Frequent - Advanced bone age - Broad nose / nasal bridge - Frontal bossing / prominent forehead - High forehead - Syndactyly of fingers / interdigital palm - Syndactyly of toes - Telecanthus / canthal dystopy Occasional - Broad / bifid big toe - Broad / bifid thumb - Corpus callosum / septum pellucidum total / partial agenesis - Craniostenosis / craniosynostosis / sutural synostosis - Diaphragmatic hernia / defect / agenesis - Hydrocephaly - Insterstitial / subtelomeric microdeletion / deletion - Postaxial polydactyly of toes / fifth supernumerary toe - Preaxial polydactyly (hand) - Seizures / epilepsy / absences / spasms / status epilepticus - Umbilical hernia