Familial synovial chondromatosis with dwarfism
| Familial synovial chondromatosis with dwarfism | |
|---|---|
| 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]
References
- ^ "Synovial chondromatosis, familial with dwarfism". Global Genes. Retrieved 22 August 2022.
- ^ "Clinical Synopsis – 186575 – SYNOVIAL CHONDROMATOSIS, FAMILIAL, WITH DWARFISM – OMIM". omim.org. Retrieved 22 August 2022.
- ^ "Entry – 186575 – SYNOVIAL CHONDROMATOSIS, FAMILIAL, WITH DWARFISM – OMIM". omim.org. Retrieved 22 August 2022.
- ^ 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. doi:10.1302/0301-620X.71B1.2914993. ISSN 0301-620X. PMID 2914993.
- ^ Felbel, J.; Gresser, U.; Lohmöller, G.; Zöllner, N. (January 1992). "Familial synovial chondromatosis combined with dwarfism". Human Genetics. 88 (3): 351–354. doi:10.1007/BF00197274. ISSN 0340-6717. PMID 1733839. S2CID 2369698.