Familial synovial chondromatosis with dwarfism

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.

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[1] "Synovial chondromatosis, familial with dwarfism". Global Genes. Retrieved 22 August 2022.

[2] "Clinical Synopsis – 186575 – SYNOVIAL CHONDROMATOSIS, FAMILIAL, WITH DWARFISM – OMIM". omim.org. Retrieved 22 August 2022.

[3] "Entry – 186575 – SYNOVIAL CHONDROMATOSIS, FAMILIAL, WITH DWARFISM – OMIM". omim.org. Retrieved 22 August 2022.

[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.

[5] 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.