Medicine:Familial synovial chondromatosis with dwarfism
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| 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" (in en-US). https://globalgenes.org/disease/synovial-chondromatosis-familial-with-dwarfism/.
- ↑ "Clinical Synopsis – 186575 – SYNOVIAL CHONDROMATOSIS, FAMILIAL, WITH DWARFISM – OMIM". https://omim.org/clinicalSynopsis/186575.
- ↑ "Entry – 186575 – SYNOVIAL CHONDROMATOSIS, FAMILIAL, WITH DWARFISM – OMIM" (in en-us). https://omim.org/entry/186575#4.
- ↑ 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. https://pubmed.ncbi.nlm.nih.gov/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. https://pubmed.ncbi.nlm.nih.gov/1733839/.
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