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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 type II
  • Microcephalic osteodysplastic primordial dwarfism with tooth abnormalities
  • MOPD 2
  • MOPD II
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 type II
  • Microcephalic osteodysplastic primordial dwarfism with tooth abnormalities
  • MOPD 2
  • MOPD II
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.