Microcephalic osteodysplastic primordial dwarfism type 2
Other Names for this Disease
- MOPD 2
- MOPD II
- Osteodysplastic primordial dwarfism type 2
- Microcephalic osteodysplastic primordial dwarfism with tooth abnormalities
- Majewski osteodysplastic primordial dwarfism type II
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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.
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- Online Mendelian Inheritance in Man (OMIM) is a 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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