Microcephalic osteodysplastic primordial dwarfism type II

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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]

Other namesMajewski osteodysplastic primordial dwarfism type II
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Microcephalic osteodysplastic primordial dwarfism type II
Other namesMajewski osteodysplastic primordial dwarfism type II
Microcephalic osteodysplastic primordial dwarfism type II is inherited in an autosomal recessive manner
SpecialtyMedical genetics Edit this on Wikidata
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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

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