Microcephalic osteodysplastic primordial dwarfism type II

Microcephalic osteodysplastic primordial dwarfism type II
Synonyms Majewski osteodysplastic primordial dwarfism type II
Microcephalic osteodysplastic primordial dwarfism type II is inherited in an autosomal recessive manner
Classification and external resources
Specialty medical genetics
ICD-10 Q87.1
OMIM 210720
Orphanet 2937

Microcephalic osteodysplastic primordial dwarfism type II (MOPD II) is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that MOPD, or a subtype of MOPD, affects less than 200,000 people in the US population and a form of dwarfism associated with brain and skeletal abnormalities.

It was characterized in 1982.[1]

It is associated with PCNT.[2]

See also

References

  1. ↑ Majewski F, Ranke M, Schinzel A (May 1982). "Studies of microcephalic primordial dwarfism II: the osteodysplastic type II of primordial dwarfism". Am. J. Med. Genet. 12 (1): 23–35. doi:10.1002/ajmg.1320120104. PMID 7201238.
  2. ↑ Rauch A, Thiel CT, Schindler D, et al. (February 2008). "Mutations in the pericentrin (PCNT) gene cause primordial dwarfism". Science. 319 (5864): 816–9. doi:10.1126/science.1151174. PMID 18174396.
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