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Microcephalic osteodysplastic primordial dwarfism type 1


Other Names for this Disease
  • Brachymelic primordial dwarfism
  • Cephaloskeletal dysplasia
  • Low-birth-weight dwarfism with skeletal dysplasia
  • Microcephalic osteodysplastic primordial dwarfism types 1 and 3
  • MOPD 1
More Names
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Overview


Microcephalic osteodysplastic primordial dwarfism type 1 (MOPD1) is a genetic condition that is mainly characterized by intrauterine and post-natal growth retardation; an abnormally small head size (microcephaly); abnormal bone growth (skeletal dysplasia); distinctive facial features; and brain anomalies. Other signs and symptoms include sparse hair and eyebrows; dry skin; short limbs; dislocation of the hips and elbows; seizures; and intellectual disability.[1] It is caused by mutations in the RNU4ATAC gene and is inherited in an autosomal recessive manner.[2] Treatment is supportive only. The prognosis is poor with most affected individuals dying within the first year of life.[1] MOPD types 1 and 3 were originally thought to be separate entities, but more recent reports have confirmed that the two forms are part of the same syndrome.[1]
Last updated: 11/11/2011

References

  1. Microcephalic osteodysplastic primordial dwarfism types 1 and 3. Orphanet. November 2008; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2636. Accessed 11/11/2011.
  2. Ada Hamosh. MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I; MOPD1. OMIM. April 22, 2011; http://omim.org/entry/210710. Accessed 11/11/2011.
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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. 
  • 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 1. Click on the link to view a sample search on this topic.