SYNOVIAL CHONDROMATOSIS, FAMILIAL, WITH DWARFISM

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 8
OrphanetNr:
OMIM Id: 186575
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0002829) Arthralgia 79 / 7739
2
(HPO:0003510) Severe short stature 90 / 7739
3
(OMIM) Floating cartilage in joint cavity 1 / 7739
4
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
5
(OMIM) Bone erosions in joints 1 / 7739
6
(OMIM) Foci of cartilage in synovial membranes 1 / 7739
7
(OMIM) Joint pain, swelling, crepitus, and palpable loose bodies 1 / 7739
8
(OMIM) Calcified joint bodies 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Reichel (1900) described a disorder in which foci of cartilage form in the synovial membrane of joints, tendon sheaths, and bursae by metaplasia of the connective tissue. These foci may become detached from the synovial membrane and enter ...