Other Names for this Disease
- Fifth digit syndrome
- Intellectual disability with absent fifth fingernail and terminal phalanx
What are the signs and symptoms of Coffin-Siris syndrome?
What causes Coffin-Siris syndrome?
How is Coffin-Siris syndrome diagnosed?
How might Coffin-Siris syndrome be treated?
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. Genetic Home Reference. May 2013; http://www.ghr.nlm.nih.gov/condition/coffin-siris-syndrome. Accessed 9/13/2013.
- 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.