Microcephalic osteodysplastic primordial dwarfism type II explained
| Synonyms: | Majewski osteodysplastic primordial dwarfism type II |
| Microcephalic osteodysplastic primordial dwarfism type II |
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] 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
Notes and References
- Majewski F, Ranke M, Schinzel A . Studies of microcephalic primordial dwarfism II: the osteodysplastic type II of primordial dwarfism . Am. J. Med. Genet. . 12 . 1 . 23–35 . May 1982 . 7201238 . 10.1002/ajmg.1320120104 .
- Rauch A, Thiel CT, Schindler D, etal . Mutations in the pericentrin (PCNT) gene cause primordial dwarfism . . 319 . 5864 . 816–9 . February 2008 . 18174396 . 10.1126/science.1151174 . 2008Sci...319..816R . 23055733 . free .
- Hall JG, Flora C, Scott CI Jr, Pauli RM, Tanaka KI . Majewski osteodysplastic primordial dwarfism type II (MOPD II): natural history and clinical findings . Am. J. Med. Genet. . 130A . 1 . 55–72 . Sep 2004 . 15368497 . 10.1002/ajmg.a.30203. 24104332 .
