ODCs

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2 OMIM references -
3 associated genes
12 signs/symptoms

COMMON GENES: 1
COMMON SIGNS: 1

1 OMIM reference -
1 associated gene
7 signs/symptoms

Isolated brachycephaly

Severe achondroplasia - developmental delay - acanthosis nigricans

Citations in the biomedical literature:

Isolated brachycephaly		Severe achondroplasia - developmental delay - acanthosis nigricans
	Synonym(s): - Non-syndromic bicornal synostosis		Synonym(s): - SADDAN

	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 skin 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 / 1 000 000 Average age onset: childhood Average age of death: no data available Type of inheritance: autosomal dominant

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


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

Isolated brachycephaly		Severe achondroplasia - developmental delay - acanthosis nigricans
	Very frequent - Brachycephaly / flat occiput - Broad forehead Frequent - Cranial hypertension - Flat supraorbital ridge - Hearing loss / hypoacusia / deafness - Proptosis / exophthalmos Occasional - Autosomal dominant inheritance - Hypertelorism - Metacarpal anomalies / Archibald's sign - Mid-facial hypoplasia / short / small midface - Short hand / brachydactyly		Very frequent - Anomalies of bones / skeletal anomalies - Seizures / epilepsy / absences / spasms / status epilepticus Frequent - Clavicle absent / abnormal - Femur anomaly / absence / agenesis / hypoplasia / bifurcation - Fibula anomaly (excluding short) / absence / agenesis / hypoplasia / fibular ray anomaly - Tibia anomaly (excluding short) / absence / agenesis / hypoplasia / tibial ray anomaly