Familial synovial chondromatosis with dwarfism

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]

Familial synovial chondromatosis with dwarfism
Other namesSynovial chondromatosis, familial with dwarfism
SpecialtyMedical genetics
SymptomsCombination of synovial chondromatosis and dwarfism
Usual onsetBirth
DurationLifelong
Preventionnone
Prognosisgood
Frequencyrare
Deaths

References

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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.