Microcephalic osteodysplastic primordial dwarfism type II (MOPD II) is a form of
primordial dwarfism
Primordial dwarfism (PD) is a form of dwarfism that results in a smaller body size in all stages of life beginning from before birth. More specifically, primordial dwarfism is a diagnostic category including specific types of profoundly proportion ...
associated with brain and skeletal abnormalities. It was characterized in 1982.
MOPD II is listed as a
rare disease
A rare disease is any disease that affects a small percentage of the population. In some parts of the world, an orphan disease is a rare disease whose rarity means there is a lack of a market large enough to gain support and resources for discove ...
by the
Office of Rare Diseases
The Office of Rare Diseases Research is a division of the National Center for Advancing Translational Sciences (NCATS) that oversees the Rare Diseases Clinical Research Network and Genetic and Rare Diseases Information Center.
History
The Offic ...
(ORD) of the
National Institutes of Health
The National Institutes of Health, commonly referred to as NIH (with each letter pronounced individually), is the primary agency of the United States government responsible for biomedical and public health research. It was founded in the late ...
(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
Pericentrin (kendrin), also known as PCNT and pericentrin-B (PCNTB), is a protein which in humans is encoded by the ''PCNT'' gene on chromosome 21. This protein localizes to the centrosome and recruits proteins to the pericentriolar matrix (PCM) ...
(PCNT).
Notable persons with MOPD II
*
Lucia Zarate Lucia may refer to:
Arts and culture
* ''Lucía'', a 1968 Cuban film by Humberto Solás
* ''Lucia'' (film), a 2013 Kannada-language film
* '' Lucia & The Best Boys'', a Scottish indie rock band formerly known as ''LUCIA''
* "Lucia", a Swedish c ...
, sideshow entertainer
*
Bridgette Jordan
Bridgette Marie Jordan (June 9, 1989 – June 12, 2019) was the smallest living woman according to Guinness World Records at 2 ft 3in (69 cm). She was also one of the shortest living siblings according to Guinness World Records with her ...
, smallest living woman until her death in 2019
See also
*
Primordial dwarfism
Primordial dwarfism (PD) is a form of dwarfism that results in a smaller body size in all stages of life beginning from before birth. More specifically, primordial dwarfism is a diagnostic category including specific types of profoundly proportion ...
References
External links
{{Cytoskeletal defects
Growth disorders