For faster navigation, this Iframe is preloading the Wikiwand page for Microcephalic osteodysplastic primordial dwarfism type II.

Microcephalic osteodysplastic primordial dwarfism type II

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

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

References

  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. ^ 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. ^ 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.
{{bottomLinkPreText}} {{bottomLinkText}}
Microcephalic osteodysplastic primordial dwarfism type II
Listen to this article

This browser is not supported by Wikiwand :(
Wikiwand requires a browser with modern capabilities in order to provide you with the best reading experience.
Please download and use one of the following browsers:

This article was just edited, click to reload
This article has been deleted on Wikipedia (Why?)

Back to homepage

Please click Add in the dialog above
Please click Allow in the top-left corner,
then click Install Now in the dialog
Please click Open in the download dialog,
then click Install
Please click the "Downloads" icon in the Safari toolbar, open the first download in the list,
then click Install
{{::$root.activation.text}}

Install Wikiwand

Install on Chrome Install on Firefox
Don't forget to rate us

Tell your friends about Wikiwand!

Gmail Facebook Twitter Link

Enjoying Wikiwand?

Tell your friends and spread the love:
Share on Gmail Share on Facebook Share on Twitter Share on Buffer

Our magic isn't perfect

You can help our automatic cover photo selection by reporting an unsuitable photo.

This photo is visually disturbing This photo is not a good choice

Thank you for helping!


Your input will affect cover photo selection, along with input from other users.

X

Get ready for Wikiwand 2.0 🎉! the new version arrives on September 1st! Don't want to wait?