Microcephalic osteodysplastic primordial dwarfism type II
| Microcephalic osteodysplastic primordial dwarfism type II | |
|---|---|
| Other names | Majewski osteodysplastic primordial dwarfism type II |
 | |
| Microcephalic osteodysplastic primordial dwarfism type II is inherited in an autosomal recessive manner | |
| Specialty | Medical genetics  |
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]
Notable persons with MOPD II[]
- Lucia Zarate, sideshow entertainer
- Bridgette Jordan, smallest living woman until her death in 2019
See also[]
References[]
- ^ 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.
- ^ 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.
External links[]
Categories:
- Growth disorders