ODCs

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2 OMIM references -
1 associated gene
13 signs/symptoms

COMMON GENES: 1
COMMON SIGNS: 1

2 OMIM references -
2 associated genes
14 signs/symptoms

Familial articular chondrocalcinosis

Craniometaphyseal dysplasia

ANKH	(UniProt - OMIM)		ANKH	(UniProt - OMIM)
			GJA1	(UniProt - OMIM)

Citations in the biomedical literature:

Familial articular chondrocalcinosis		Craniometaphyseal dysplasia
	Synonym(s): - CPPD - CPPDD - Calcium pyrophosphate deposition disease - Calcium pyrophosphate dihydrate crystal deposition disease		Synonym(s): - CMD

	Classification (Orphanet): - Rare systemic or rheumatologic 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: unknown Average age onset: adulthood 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: - Type of inheritance: autosomal dominant

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


COMMON SIGNS	- Autosomal dominant inheritance

Familial articular chondrocalcinosis		Craniometaphyseal dysplasia
	Very frequent - Arthritis / synovitis / synovial proliferation - Articular / joint pain / arthralgia - Calcification of cartilages / intraarticular calcification - Hydrarthrosis / articular / joint effusion - Intervertebral disk anomaly Frequent - Osteoarthritis Occasional - Joint dislocation / subluxation - Joint / articular deformation - Periarticular tissue anomaly / extraarticular calcifications - Restricted joint mobility / joint stiffness / ankylosis - Seizures / epilepsy / absences / spasms / status epilepticus - Tendon rupture / tendinitis / bursitis / tenosynovitis		Very frequent - Broad nasal root - Dense / thickened skull / calvarium / cranial / facial hyperostosis - Depressed nasal bridge - Hypertelorism - Metaphyseal anomaly - Osteosclerosis / osteopetrosis / bone condensation Frequent - Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia - Telecanthus / canthal dystopy Occasional - Conductive deafness / hearing loss - Cranial nerve anomalies - Facial palsy - Sensorineural deafness / hearing loss - Visual loss / blindness / amblyopia