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Genetic and Rare Diseases Information Center (GARD)

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Coffin-Siris syndrome

Other Names for this Disease
  • Fifth digit syndrome
  • Intellectual disability with absent fifth fingernail and terminal phalanx
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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: 10/7/2013

  1. Coffin-Siris Syndrome. Genetics Home Reference. May 2013; Accessed 9/13/2013.