Spondylometaphyseal dysplasia, East-African type

Spondylometaphyseal dysplasia, East-African type is a rare genetic disorder which is characterized by skeletal abnormalities involving the vertebrae and the metaphysis. Only two isolated cases have been reported.[1]

Spondylometaphyseal dysplasia, East African type
Other namesSMD, East African type
SpecialtyMedical genetics
SymptomsBone abnormalities
Usual onsetBirth
DurationLife-long
Preventionnone
PrognosisOk-Good
Frequencyvery rare, only 2 cases have been reported in medical literature
Deaths-

Description

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People with this disorder usually have the following symptoms:[2]

  • Severe early-onset metaphyseal dysplasia which makes the metaphyses have the shape of a bracket
  • Pelvis dysplasia
  • Oval-shaped vertebrae

Etiology

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This disorder was first discovered in 2002, by Verloes et al, when they described two un-related patients from East Africa, both of them had additional features such as short-limbed short stature, brachydactyly, etc.[3] to be more specific, one child came from healthy un-related Rwandanese parents and the other child came from healthy un-related parents from Madagascar.[4] They concluded that the patients did not have SMD type A4, but rather a brand new type of SMD.

References

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  1. ^ "OMIM Entry - 611702 - SPONDYLOMETAPHYSEAL DYSPLASIA, EAST AFRICAN TYPE". omim.org. Retrieved 2022-05-31.
  2. ^ Verloes, A.; Lepage, P.; Baumann, C.; Maroteaux, P.; Merrer, M. (2002). "Spondylometaphyseal dysplasia, east-African type: a new form of early, severe SMD with rounded vertebrae". American Journal of Medical Genetics. 113 (4): 362–366. doi:10.1002/AJMG.B.10738. PMID 12457408. S2CID 36576733.
  3. ^ Verloes, Alain; Lepage, Philippe; Baumann, Clarisse; Maroteaux, Pierre; Merrer, Martine Le (2002-12-15). "Spondylometaphyseal dysplasia, east-African type: a new form of early, severe SMD with rounded vertebrae". American Journal of Medical Genetics. 113 (4): 362–366. doi:10.1002/ajmg.b.10738. ISSN 0148-7299. PMID 12457408.
  4. ^ Verloes, Alain; Lepage, Philippe; Baumann, Clarisse; Maroteaux, Pierre; Merrer, Martine Le (2002). "Spondylometaphyseal dysplasia, east-African Type: A new form of early, severe SMD with rounded vertebrae". American Journal of Medical Genetics. 113 (4): 362–366. doi:10.1002/ajmg.b.10738. ISSN 0148-7299. PMID 12457408.