Opsismodysplasia

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Opsismodysplasia
Other namesOPSMD [1]
SpecialtyOrthopedic

Opsismodysplasia is a type of

congenital, being apparent at birth. It has a variable mortality, with some affected individuals living to adulthood. The disorder is rare, with an incidence of less than 1 per 1,000,000 worldwide. It is inherited in an autosomal recessive pattern, which means the defective (mutated) gene that causes the disorder is located on an autosome, and the disorder occurs when two copies of this defective gene are inherited. No specific gene has been found to be associated with the disorder. It is similar to spondylometaphyseal dysplasia, Sedaghatian type.[2][3][4][5][6]

Presentation

Typical ossification center formation in a developing long bone of a fetal cat.

Opsismodysplasia can be characterized by a delay in

carpals (bones of the hand and wrist).[7][8][9][10][11] In opsismodysplasia, the process of ossification in long bones can be disrupted by a failure of ossification centers (a center of organization in long bones, where cartilage cells designated to await and undergo ossification gather and align in rows)[12] to form. This was observed in a 16-month-old boy with the disorder, who had no apparent ossification centers in the carpals (bones of the hand and wrist) or tarsals (bones of the foot). This was associated with an absence of ossification in these bones, as well as disfigurement of the hands and feet at age two. The boy also had no ossification occurring in the lower femur (thigh bone) and upper tibia (the shin bone).[13]

Genetics

Opsismodysplasia has an autosomal recessive pattern of inheritance.

Opsismodysplasia is inherited in an autosomal recessive manner.

carry one copy of the defective gene, but usually do not experience any signs or symptoms of the disorder. Currently, no specific mutation in any gene has been found to cause the disorder.[4][6]

It appears that the gene inositol polyphosphate phosphatase-like 1 is the cause of this condition in at least some cases.[14]

Diagnosis

Epidemiology

Opsismodysplasia is a very rare disorder, and is estimated to occur in less than 1 in 1,000,000 people.[6]

History

The disorder was first described by Jonathan Zonana and associates in 1977.[2] Further observation of four cases of it was reported by Pierre Maroteaux and colleagues in 1982,[15] and Maroteaux was the first to call the disorder "opsismodysplasia", in a 1984 journal report of three affected individuals.[3] The name derives from the Greek opsismos, meaning "late",[4] while the term dysplasia refers to development.[6]

References

  1. ^ "OMIM Entry - # 258480 - OPSISMODYSPLASIA; OPSMD". omim.org. Retrieved 27 June 2019.
  2. ^
    PMID 922134
    .
  3. ^
    PMID 6496568
    .
  4. ^
    PMID 12624139
    .
  5. ^
    PMID 10076884
    .
  6. ^ a b c d "::Opsismodysplasia". Orphanet. Retrieved April 15, 2011.
  7. PMID 2037639
    .
  8. PMID 8805044
    .
  9. S2CID 42513080
    .
  10. PMID 17369018
    .
  11. PMID 17387000
    .
  12. ^ Gray, Henry; Spitzka, Edward Anthony (1910). Anatomy, descriptive and applied. the University of California: Lea & Febiger. p. 44. ossification.
  13. PMID 8209898
    .
  14. ^ Chai EC, Singaraja RR (2013) Opsismodysplasia: Implications of mutations in the developmental gene INPPL1. Clin Genet doi: 10.1111/cge.12136
  15. PMID 7163279
    .

External links

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