Orphanet: Hereditary arterial and articular multiple calcification syndrome

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Hereditary arterial and articular multiple calcification syndrome

Disease definition

Hereditary arterial and articular multiple calcification syndrome is a very rare genetic vascular disease of autosomal recessive inheritance, described in less than 20 patients to date, characterized by adult-onset (as early as the second decade of life) isolated calcification of the arteries of the lower extremities (including the iliac, femoral, and tibial arteries) as well as the capsule joints of the fingers, wrists, ankles and feet, and that usually manifests with mild paresthesias of the lower extremities, intense joint pain and swelling, and early onset arthritis of affected joints.

ORPHA:289601

Classification level: Disorder

Synonym(s):
- CALJA
- Calcification of joints and arteries
Prevalence: <1 / 1 000 000
Inheritance: Autosomal recessive
Age of onset: Adult
ICD-10: I77.8
OMIM: 211800
UMLS: C1859372
MeSH: C565891
GARD: 10762
MedDRA: -

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Hereditary arterial and articular multiple calcification syndrome

ORPHA:289601

A summary on this disease is available in Deutsch (2016) Español (2016) Italiano (2016) Nederlands (2016)

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