Coffin Siris Syndrome

Disorder Subdivisions

• None

General Discussion

Coffin-Siris syndrome (CSS) is a rare genetic disorder that may be evident at birth (congenital). The disorder may be characterized by abnormalities of the head and facial (craniofacial) area, resulting in a coarse facial appearance. Craniofacial malformations may include an abnormally small head (microcephaly); a wide nose with a low nasal bridge; a wide mouth with thick, prominent lips; thick eyebrows and eyelashes (hypertrichosis); and sparse scalp hair. In addition, affected infants and children typically have short fifth fingers ("pinkies") and toes with underdeveloped (hypoplastic) or absent nails; other malformations of the fingers and toes; and eye abnormalities. Feeding difficulties and frequent respiratory infections during infancy, diminished muscle tone (hypotonia), abnormal looseness (laxity) of the joints, delayed bone age, developmental delays, hearing loss, and intellectual disability may also be present. The specific symptoms and severity can vary among affected individuals. Treatment is directed towards the symptoms that are present in an individual with CSS. Mutations in five different genes, ARID1A, ARID1B, SMARCA4, SMARCB1, and SMARCE1, have been found to cause CSS. Researchers believe the disease can be transmitted genetically as an autosomal dominant trait but most cases appear to be the result of a new mutation.

Supporting Organizations

Genetic and Rare Diseases (GARD) Information Center

PO Box 8126

Gaithersburg, MD 20898-8126

Tel: (301)251-4925

Fax: (301)251-4911

Tel: (888)205-2311

Website: http://rarediseases.info.nih.gov/GARD/

NIH/National Institute of Child Health and Human Development

31 Center Dr

Building 31, Room 2A32

Bethesda, MD 20892

Fax: (866)760-5947

Tel: (800)370-2943

Email: NICHDInformationResourceCenter@mail.nih.gov

Website: http://www.nichd.nih.gov/

National Foundation for Ectodermal Dysplasias

6 Executive Drive

Suite 2

Fairview Hights, IL 62208

USA

Tel: 618-566-2020

Fax: 618-566-4718

Email: info@nfed.org

Website: http://www.nfed.org

The Arc

1825 K Street NW, Suite 1200

Washington, DC 20006

Tel: (202)534-3700

Fax: (202)534-3731

Tel: (800)433-5255

Email: info@thearc.org

Website: http://www.thearc.org

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders (NORD). For a full-text version of this report, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".

The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only.

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This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.

Last Updated:  7/30/2015
Copyright  2015 National Organization for Rare Disorders, Inc.