Microcephalic_osteodysplastic_primordial_dwarfism_type_II

Microcephalic osteodysplastic primordial dwarfism type II

Microcephalic osteodysplastic primordial dwarfism type II

Medical condition

Microcephalic osteodysplastic primordial dwarfism type II (MOPD II) is a form of primordial dwarfism associated with brain and skeletal abnormalities. It was characterized in 1982.[1]

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MOPD II is listed as a rare disease by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This indicates that MOPD (or a subtype of MOPD) affects less than 200,000 people in the US population.

It is associated with the protein pericentrin (PCNT).[2]

Intelligence is reported by usually within low-normal or mild intellectual disability range.[3] Some have average levels of intelligence, but may masked by specific learning disability.

Notable persons with MOPD II

See also

References

  1. [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. [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. Bibcode:2008Sci...319..816R. doi:10.1126/science.1151174. PMID 18174396. S2CID 23055733.
  3. [3]
    Hall JG, Flora C, Scott CI Jr, Pauli RM, Tanaka KI (Sep 2004). "Majewski osteodysplastic primordial dwarfism type II (MOPD II): natural history and clinical findings". Am. J. Med. Genet. 130A (1): 55–72. doi:10.1002/ajmg.a.30203. PMID 15368497. S2CID 24104332.
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