Familial synovial chondromatosis with dwarfism | |
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Other names | Synovial chondromatosis, familial with dwarfism |
Specialty | Medical genetics |
Symptoms | Combination of synovial chondromatosis and dwarfism |
Usual onset | Birth |
Duration | Lifelong |
Prevention | none |
Prognosis | good |
Frequency | rare |
Deaths | – |
Familial synovial chondromatosis with dwarfism is a rare genetic disorder characterized by a combination of both synovial chondromatosis and dwarfism.[1][2] Only 3 families from Germany and the United States worldwide have been described with the disorder, and they showed either X-linked or autosomal dominant inheritance.[3][4][5]