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Diseases

Genetic and Rare Diseases Information Center (GARD)

Renpenning syndrome 1


Other Names for this Disease
  • RENS1
  • Mental retardation, X-linked Renpenning type
  • Sutherland-Haan X-linked mental retardation syndrome
  • X-linked mental retardation with spastic diplegia
  • X-linked mental retardation syndromic 3
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Overview

Renpenning syndrome is a genetic condition which occurs mostly in males. Signs and symptoms include the following: developmental delay, a small head (microcephaly), short stature, and distinctive facial features. Approximately two-thirds of individuals with Renpenning syndrome have moderate to severe intellectual disability. Additional features may include heart defects, muscular atrophy, cleft palate, and eye abnormalities. [1][2] Renpenning syndrome is caused by mutations in the PQBP1 gene and is inherited in an X-linked recessive manner. [1][2][3] Management involves early intervention by trained therapists along with treatment of any associated features. [2]
Last updated: 2/3/2016

References

  1. Renpenning syndrome. Genetics Home Reference. June, 2012; http://ghr.nlm.nih.gov/condition/renpenning-syndrome. Accessed 2/3/2016.
  2. Renpenning syndrome. Orphanet. June, 2012; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=3242. Accessed 2/3/2016.
  3. RENPENNING SYNDROME 1; RENS1. Online Mendelian Inheritance in Man (OMIM). January, 2012; http://omim.org/entry/309500. Accessed 2/3/2016.
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Basic Information

  • You can obtain information on this topic from the Centers for Disease Control and Prevention (CDC). The CDC is recognized as the lead federal agency for developing and applying disease prevention and control, environmental health, and health promotion and education activities designed to improve the health of the people of the United States.
  • Genetics Home Reference (GHR) contains information on Renpenning syndrome 1. This website is maintained by the National Library of Medicine.
  • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.

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 Renpenning syndrome 1. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • RENS1
  • Mental retardation, X-linked Renpenning type
  • Sutherland-Haan X-linked mental retardation syndrome
  • X-linked mental retardation with spastic diplegia
  • X-linked mental retardation syndromic 3
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.