ODCs

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2 OMIM references -
1 associated gene
15 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 6

1 associated gene
17 signs/symptoms

Craniodiaphyseal dysplasia

Osteosclerosis - developmental delay - craniosynostosis


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	SOST	(0.68)	LRP5

Citations in the biomedical literature:

Craniodiaphyseal dysplasia		Osteosclerosis - developmental delay - craniosynostosis

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease		Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease

	Classification (ICD10): - Diseases of the musculoskeletal system and connective tissue -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	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		Epidemiological data: Class of prevalence: <1 / 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: No OMIM references No MeSH references


COMMON SIGNS	- Autosomal dominant inheritance - Dense / thickened skull / calvarium / cranial / facial hyperostosis - Enlargment of jaw / large jaw - Intellectual deficit / mental / psychomotor retardation / learning disability - Macrocephaly / macrocrania / megalocephaly / megacephaly - Optic nerve anomaly / optic atrophy / anomaly of the papilla

Craniodiaphyseal dysplasia		Osteosclerosis - developmental delay - craniosynostosis
	Very frequent - Broad nose / nasal bridge - Coarse face - Depressed nasal bridge - Enlarged diaphysis / diaphyses - Frontal bossing / prominent forehead - Rib structure anomalies - Short stature / dwarfism / nanism Frequent - Conductive deafness / hearing loss - External auditory canal atresia / stenosis / agenesis		Very frequent - Brachycephaly / flat occiput - Broad forehead - High forehead - Hypertelorism - Osteosclerosis / osteopetrosis / bone condensation Frequent - Craniostenosis / craniosynostosis / sutural synostosis Occasional - Cranial hypertension - Facial pain / cephalalgia / migraine - Facial palsy - Hearing loss / hypoacusia / deafness - Visual loss / blindness / amblyopia