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

  1. Web site: Synovial chondromatosis, familial with dwarfism . 2022-08-22 . Global Genes . en-US.
  2. Web site: Clinical Synopsis – 186575 – SYNOVIAL CHONDROMATOSIS, FAMILIAL, WITH DWARFISM – OMIM . 2022-08-22 . omim.org.
  3. Web site: Entry – 186575 – SYNOVIAL CHONDROMATOSIS, FAMILIAL, WITH DWARFISM – OMIM . 2022-08-22 . omim.org . en-us.
  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 . 10.1302/0301-620X.71B1.2914993 . 0301-620X . 2914993.
  5. 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 .