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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
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) is an catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
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