- Fifth digit syndrome
- Intellectual disability with absent fifth fingernail and terminal phalanx
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
- Short stature
- Low muscle tone
- Loose joints
- Eye abnormalities
- Heart abnormalities
- Brain abnormalities
- Kidney abnormalities
The Human Phenotype Ontology provides the following list of signs and symptoms for Coffin-Siris syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms.
The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature.
The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined.
Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
- Coffin-Siris Syndrome. Genetics Home Reference. May 2013; http://www.ghr.nlm.nih.gov/condition/coffin-siris-syndrome. Accessed 1/5/2016.