Other Names for this Disease
- Fifth digit syndrome
- Intellectual disability with absent fifth fingernail and terminal phalanx
Your QuestionI 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.
We have identified the following information that we hope you find helpful. If you still have questions, please contact us.
Questions on this page
- What is Coffin-Siris syndrome?
- What are the signs and symptoms of Coffin-Siris syndrome?
- How is Coffin-Siris syndrome diagnosed?
- How rare is Coffin-Siris syndrome?
- Is Coffin-Siris syndrome more common in girls or boys?
- What causes Coffin-Siris syndrome?
- How might Coffin-Siris syndrome be treated?
- Are there any advocacy organizations for individuals and families with Coffin-Siris syndrome?
The signs and symptoms of Coffin-Siris syndrome vary. More commonly described symptoms include:
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:
Small head size
Frequent respiratory infections in infancy
Feeding difficulty in infancy
Failure to thrive
Low muscle tone
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.
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.
Coffin-Siris Syndrome Support Group
1524 Marshall Street
Antioch, CA 94509
- Coffin-Siris Syndrome. Genetic Home Reference. May 2013; http://www.ghr.nlm.nih.gov/condition/coffin-siris-syndrome. Accessed 9/13/2013.
- Coffin-Siris syndrome. Genetics Home Reference. May 2013; http://ghr.nlm.nih.gov/condition/coffin-siris-syndrome. Accessed 10/7/2013.
- Coffin Siris Syndrome. The National Organization for Rare Disorders (NORD). http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Coffin%20Siris%20Syndrome. Accessed 3/20/2008.
- 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.