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Genetic and Rare Diseases Information Center (GARD)

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Rapp-Hodgkin syndrome


Other Names for this Disease

  • Ectodermal dysplasia, anhidrotic, with cleft lip/palate
  • Rapp-Hodgkin ectodermal dysplasia syndrome
  • RHS
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

Rapp-Hodgkin syndrome is a form of ectodermal dysplasia, a group of about 150 conditions characterized by abnormal development of ectodermal tissues including the skin, hair, nails, teeth, and sweat glands.[1] This condition is characterized by the association of anhidrotic ectodermal dysplasia with cleft lip/palate. Other common features include sparse, brittle, and dry hair with alopecia in adulthood together with hypohidrosis (a reduced ability to sweat) and heat intolerance, dental anomalies (hypodontia (absent teeth) , cone-shaped incisors and enamel hypoplasia (thin or absent tooth enamel) and dysplastic (misshapen or absent) nails.[2] Rapp-Hodgkin syndrome is transmitted as an autosomal dominant trait and is caused by mutations in the TP63 gene.[1][2] Treatment is symptomatic and supportive. A multidisciplinary team of specialists in medical genetics, dermatology, ophthalmology, otolaryngology, audiology, dentistry and prosthodontics, plastic surgery, gastroenterology, and psychiatry is recommended.[3]

Rapp-Hodgkin syndrome has signs and symptoms that overlap considerably with those of ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome. These two syndromes were classified as separate disorders until it was discovered that they both result from mutations in the same part of the same gene. Most researchers now consider Rapp-Hodgkin syndrome and AEC syndrome to be part of the same disease spectrum.[1][3]

Last updated: 8/16/2011

References

  1. Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome. Genetics Home Reference (GHR). 2011; http://ghr.nlm.nih.gov/condition/ankyloblepharon-ectodermal-defects-cleft-lip-palate-syndrome. Accessed 8/16/2011.
  2. Rapp-Hodgkin syndrome. Orphanet. 2006; http://www.orphanet.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=3022. Accessed 8/16/2011.
  3. Sutton VR, Bree AF, van Bokhoven H. Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome. GeneReviews. 2010; http://www.ncbi.nlm.nih.gov/books/NBK43797/. Accessed 8/16/2011.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Rapp-Hodgkin syndrome. This website is maintained by the National Library of Medicine.
  • The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on 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 Rapp-Hodgkin syndrome. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Ectodermal dysplasia, anhidrotic, with cleft lip/palate
  • Rapp-Hodgkin ectodermal dysplasia syndrome
  • RHS
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.