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Diseases

Genetic and Rare Diseases Information Center (GARD)

Abruzzo-Erickson syndrome


Other Names for this Disease
  • CHARGE like syndrome X-linked
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

Abruzzo-Erickson syndrome is an extremely rare condition characterized by cleft palatecoloboma, hypospadius, deafness, short stature, and radioulnar synostosis.[1] Although the underlying cause of the condition is still being studied, it appears to result, at least in part, from mutations in the TBX22 gene.[1][2][3] The condition is inherited in an X-linked recessive manner.[1][2] Treatment is generally aimed at addressing the symptoms present in each individual.
Last updated: 6/24/2016

References

  1. Abruzzo M. Abruzzo-Erickson syndrome. Orphanet. July 2015; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=921.
  2. ABRUZZO-ERICKSON SYNDROME; ABERS. Online Mendelian Inheritance in Man (OMIM). May 9, 2013; http://www.omim.org/entry/302905.
  3. Pauws E, Peskett E, Boissin C, Hoshino A, Mengrelis K, Carta E, Abruzzo MA, Lees M, Moore GE, Erickson RP, Stanier P. X-linked CHARGE-like Abruzzo-Erickson syndrome and classic cleft palate with ankyloglossia result from TBX22 splicing mutations.. Clin Genet. 2013 Apr; 83(4):352-8. https://www.ncbi.nlm.nih.gov/pubmed/22784330.
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In Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • 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 Abruzzo-Erickson syndrome. Click on the link to view a sample search on this topic.

Selected Full-Text Journal Articles

Other Names for this Disease
  • CHARGE like syndrome X-linked
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.