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Diseases

Genetic and Rare Diseases Information Center (GARD)

Coffin-Siris syndrome


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

Your Question

I have an infant daughter with Coffin Siris Syndrome. I am trying to find information about the disease as well as connect with other families who have an affected child. 

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

What is Coffin-Siris syndrome?

Coffin-Siris syndrome is a genetic condition that causes variable degrees of learning disability, developmental delays, underdeveloped “pinky” toenails or fingernails, and distinct facial features. It can be caused by a change (mutation) in any of several genes including the ARID1A, ARID1B, SMARCA4, SMARCB1, or SMARCE1 genes. Coffin-Siris syndrome follows an autosomal dominant pattern of inheritance, however it usually occurs for the first time in a family due to a new mutation.[1] Occupational, physical, and/or speech therapy can help affected individuals reach their full potential.[2]
Last updated: 1/5/2016

What are the signs and symptoms of Coffin-Siris syndrome?

The signs and symptoms of Coffin-Siris syndrome vary. More commonly described symptoms include:[1]

  • Mild to severe intellectual disability
  • Mild to severe speech delay
  • Mild to severe delay in motor skills, such as sitting and walking
  • Underdeveloped fingertips or toes
  • Missing “pinky” fingernails or toenails
  • Distinctive facial features, such as a wide mouth, thick lips, thick eyelashes and brows, wide nose, and flat nasal bridge
  • Extra hair growth on the face and body
  • Sparse scalp hair

Other symptoms that have been described in infants and children with Coffin-Siris syndrome include:[1]

  • Small head size
  • Frequent respiratory infections in infancy
  • Feeding difficulty in infancy
  • Failure to thrive
  •  Short stature
  • Low muscle tone
  • Loose joints
  • Eye abnormalities
  • Heart abnormalities
  • Brain abnormalities
  • Kidney abnormalities
Last updated: 1/5/2016

How is Coffin-Siris syndrome diagnosed?

Diagnosis of Coffin-Siris syndrome is largely based upon the presence or absence of common signs and symptoms in the individual. While formal diagnostic criteria have not been established, most individuals with a clinical diagnosis of Coffin-Siris syndrome have certain features in common.[2] You can find detailed information on this topic at the following link to GeneReviews.
http://www.ncbi.nlm.nih.gov/books/NBK131811/#coffin-siris.Diagnosis

Genetic testing may also be used to diagnose or confirm cases of Coffin-Siris syndrome.[2]
Last updated: 1/5/2016

How rare is Coffin-Siris syndrome?

Coffin-Siris syndrome is considered a very rare condition. Approximately 80 cases have been reported in the medical literature. It is diagnosed in females more frequently than in males.[3]
Last updated: 10/7/2013

Is Coffin-Siris syndrome more common in girls or boys?

The disease seems to occur more frequently in girls than in boys.[4]
Last updated: 10/7/2013

What causes Coffin-Siris syndrome?

Coffin-Siris syndrome is caused by a change (mutation) in either the ARID1A, ARID1B, SMARCA4, SMARCB1, or SMARCE1 gene. Exactly how these gene mutations result in the symptoms of Coffin-Siris syndrome is not known, however it is thought that the mutations affect how genetic material is packaged in the cell.

Coffin-Siris syndrome is an autosomal dominant condition; as only one gene mutation is needed to cause the syndrome. It usually occurs for the first time in a family due to a new mutation. 

In some cases, no genetic mutation can be identified and the cause of Coffin-Siris syndrome in the family remains unknown.[1]
Last updated: 1/5/2016

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.[2]

Last updated: 1/5/2016

Are there any advocacy organizations for individuals and families with Coffin-Siris syndrome?

Additional information and supportive resources for Coffin-Siris syndrome can be obtained from the following organization. 

Coffin-Siris Syndrome Support Group
1524 Marshall Street
Antioch, CA  94509
Telephone: 925-754-6568
E-mail: jxgarris@aol.com
Last updated: 3/29/2013

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