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Genetic and Rare Diseases Information Center (GARD)

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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
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

Microcephalic osteodysplastic primordial dwarfism type 2 (MOPD2) is a condition characterized by 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.[1]
Last updated: 11/11/2011

References

  1. 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.
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Basic Information

  • 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

  • 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. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Microcephalic osteodysplastic primordial dwarfism type 2. Click on the link to view a sample search on this topic.
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
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.