Familial synovial chondromatosis with dwarfism explained
Familial synovial chondromatosis with dwarfism |
Synonyms: | Synovial chondromatosis, familial with dwarfism |
Specialty: | Medical genetics |
Symptoms: | Combination of synovial chondromatosis and dwarfism |
Onset: | Birth |
Duration: | Lifelong |
Cause: | --> |
Risk: | --> |
Prevention: | none |
Management: | --> |
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]
Notes and References
- Web site: Synovial chondromatosis, familial with dwarfism . 2022-08-22 . Global Genes . en-US.
- Web site: Clinical Synopsis – 186575 – SYNOVIAL CHONDROMATOSIS, FAMILIAL, WITH DWARFISM – OMIM . 2022-08-22 . omim.org.
- Web site: Entry – 186575 – SYNOVIAL CHONDROMATOSIS, FAMILIAL, WITH DWARFISM – OMIM . 2022-08-22 . omim.org . en-us.
- Steinberg . G. G. . Desai . S. S. . Malhotra . R. . Hickler . R. . January 1989 . Familial synovial chondromatosis: brief report . The Journal of Bone and Joint Surgery. British Volume . 71 . 1 . 144–145 . 10.1302/0301-620X.71B1.2914993 . 0301-620X . 2914993.
- Felbel . J. . Gresser . U. . Lohmöller . G. . Zöllner . N. . January 1992 . Familial synovial chondromatosis combined with dwarfism . Human Genetics . 88 . 3 . 351–354 . 10.1007/BF00197274 . 0340-6717 . 1733839. 2369698 .