Your browser does not support javascript:   Search for gard hereSearch for news-and-events here.

Diseases

Genetic and Rare Diseases Information Center (GARD)

Print friendly version

Coffin-Siris syndrome


Other Names for this Disease

  • Fifth digit syndrome
  • Intellectual disability with absent fifth fingernail and terminal phalanx
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Treatment

Newline Maker

How might Coffin-Siris syndrome be treated?

People with Coffin-Siris syndrome may benefit from occupational, physical, and speech therapy. Developmental pediatricians may be helpful in recommending and coordinating therapeutic and educational interventions. Additional specialty care may be needed depending on the symptoms in the individual, such as by gastrointestinal, eye, kidney, heart, and hearing specialists.[1]

Last updated: 9/13/2013

References
  1. Vergano SS, Santen G, Wieczorek D, Wollnik B, Matsumoto N, Deardorff MA. Coffin-Siris Syndrome. GeneReviews. April 4, 2013; http://www.ncbi.nlm.nih.gov/books/NBK131811/. Accessed 9/13/2013.


Management Guidelines

  • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions. Click on the link to view the article on this topic.

Clinical Trials & Research for this Disease

  • The U.S. National Institutes of Health, through the National Library of Medicine, developed ClinicalTrials.gov to provide patients, family members, and members of the public with current information on clinical research studies. There is a study titled Studies of Children with Metabolic or Other Genetic Disorders which may be of interest to you. To find this trial, click on the link above.
Other Names for this Disease
  • Fifth digit syndrome
  • Intellectual disability with absent fifth fingernail and terminal phalanx
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.