ODCs

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2 OMIM references -
1 associated gene
15 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 4

1 OMIM reference -
1 associated gene
14 signs/symptoms

Craniodiaphyseal dysplasia

Autosomal dominant osteosclerosis, Worth type


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

Citations in the biomedical literature:

Craniodiaphyseal dysplasia		Autosomal dominant osteosclerosis, Worth type
	Synonym(s): (no synonyms)		Synonym(s): - Endosteal hyperostosis, Worth type - Worth syndrome

	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: - Average age onset: - Average age of death: - Type of inheritance: autosomal dominant

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


COMMON SIGNS	- Autosomal dominant inheritance - Dense / thickened skull / calvarium / cranial / facial hyperostosis - Enlarged diaphysis / diaphyses - Enlargment of jaw / large jaw

Craniodiaphyseal dysplasia		Autosomal dominant osteosclerosis, Worth type
	Very frequent - Broad nose / nasal bridge - Coarse face - Depressed nasal bridge - Frontal bossing / prominent forehead - Intellectual deficit / mental / psychomotor retardation / learning disability - Macrocephaly / macrocrania / megalocephaly / megacephaly - Rib structure anomalies - Short stature / dwarfism / nanism Frequent - Conductive deafness / hearing loss - External auditory canal atresia / stenosis / agenesis Occasional - Optic nerve anomaly / optic atrophy / anomaly of the papilla		Very frequent - Anomalies of the ribs - Clavicle absent / abnormal - Cortical anomaly / thick bone cortical layer - Osteosclerosis / osteopetrosis / bone condensation - Palate exostoses / torus palatinus Frequent - Abnormal vertebral size / shape Occasional - Facial palsy - Nystagmus - Prognathism / prognathia - Sensorineural deafness / hearing loss