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Microcephalic osteodysplastic primordial dwarfism type 2
Other Names for this Disease
- Majewski osteodysplastic primordial dwarfism type II
- Microcephalic osteodysplastic primordial dwarfism with tooth abnormalities
- MOPD 2
- MOPD II
- Osteodysplastic primordial dwarfism type 2
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short stature (dwarfism), skeletal abnormalities and an unusually small head size (microcephaly). Other signs and symptoms of MOPD2 may include hip dysplasia; thinning of the bones in the arms and legs; scoliosis; shortened wrist bones; a high-pitched voice; distinctive facial features (prominent nose, full cheeks, a long midface, and a small jaw); small teeth; abnormal skin pigmentation; and blood vessel abnormalities. Intellectual development is typically normal. It is caused by mutations in the PCNT gene and is inherited in an autosomal recessive manner.Microcephalic osteodysplastic primordial dwarfism type 2 (MOPD2) is a condition characterized by
Last updated: 11/11/2011
- Microcephalic osteodysplastic primordial dwarfism type II. Genetics Home Reference. January 2011; http://ghr.nlm.nih.gov/condition/microcephalic-osteodysplastic-primordial-dwarfism-type-ii. Accessed 11/11/2011.
- Genetics Home Reference (GHR) contains information on Microcephalic osteodysplastic primordial dwarfism type 2. This website is maintained by the National Library of Medicine.
In Depth Information
- The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Microcephalic osteodysplastic primordial dwarfism type 2. Click on the link to go to OMIM and review these resources.
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