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Microcephalic osteodysplastic primordial dwarfism type II

Field	Value
synonyms	Majewski osteodysplastic primordial dwarfism type II
name	Microcephalic osteodysplastic primordial dwarfism type II
image	File:Autosomal recessive - en.svg
caption	Microcephalic osteodysplastic primordial dwarfism type II is inherited in an autosomal recessive manner

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.

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).

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

Notable persons with MOPD II

Lucia Zarate, sideshow entertainer
Bridgette Jordan, smallest living woman until her death in 2019
Burak Reis, a Turkish content creator

References

(May 1982). "Studies of microcephalic primordial dwarfism II: the osteodysplastic type II of primordial dwarfism". Am. J. Med. Genet..
(February 2008). "Mutations in the pericentrin (PCNT) gene cause primordial dwarfism". [[Science (journal).
(Sep 2004). "Majewski osteodysplastic primordial dwarfism type II (MOPD II): natural history and clinical findings". Am. J. Med. Genet..

Wikipedia Source

This article was imported from Wikipedia and is available under the Creative Commons Attribution-ShareAlike 4.0 License. Content has been adapted to SurfDoc format. Original contributors can be found on the article history page.

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