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Diseases

Genetic and Rare Diseases Information Center (GARD)

Noonan-like syndrome with loose anagen hair


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Overview

Noonan-like syndrome with loose anagen hair is characterized  by facial features suggestive of Noonan syndrome (macrocephaly, high forehead, wide-set eyes or hypertelorism, palpebral ptosis, and low-set and posteriorly rotated ears) along with hair that resembles loose anagen hair syndrome (pluckable, sparse, thin and slow-growing). Other features include frequent congenital heart defects, distinctive skin features (darkly pigmented skin with eczema or ichthyosis), short stature which may be associated with a growth hormone deficiency, and developmental delays.[1][2][3] The condition is caused by mutations in the SHOC2 gene.[1][4] It follows an autosomal dominant pattern of inheritance.[4]   
Last updated: 1/6/2016

References

  1. SHOC2. Genetics Home Reference (GHR). January 4, 2016; http://ghr.nlm.nih.gov/gene/SHOC2. Accessed 1/6/2016.
  2. Noonan syndrome-like disorder with loose anagen hair. Orphanet. November 2014; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2701. Accessed 1/6/2016.
  3. The “Classic” RASopathy Syndromes. RASopathiesNet. https://rasopathiesnet.org/rasopathies/syndromes/. Accessed 1/6/2016.
  4. Noonan Syndrome-Like Disorder With Loose Anagen Hair; NSLH. Online Mendelian Inheritance in Man (OMIM). July 21, 2014; http://www.omim.org/entry/607721. Accessed 1/6/2016.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Noonan-like syndrome with loose anagen hair. 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 Noonan-like syndrome with loose anagen hair. Click on the link to view a sample search on this topic.
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.