Microcephalic osteodysplastic primordial dwarfism type II

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Microcephalic osteodysplastic primordial dwarfism type II
SynonymsMajewski osteodysplastic primordial dwarfism type II
Autosomal recessive - en.svg
Microcephalic osteodysplastic primordial dwarfism type II is inherited in an autosomal recessive manner
Classification and external resources
Specialtymedical genetics
ICD-10Q87.1
OMIM210720
Orphanet2937

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[edit]

References[edit]

  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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