Health Dictionary
Reliable, easy-to-read patient information on common medical conditions — written in plain language, free of jargon, and grounded in current evidence. Browse the most frequent diagnoses, understand what they mean for everyday life, and learn which steps and questions help you have a focused conversation with your doctor.
Coffin-Siris syndrome
Introduction
Coffin-Siris Sydrome is a rare genetic disorder which causes mental retardation and absent fifth finger and toe nails.
Synonyms include Dwarfism-Onychodysplasia, Fifth Digit Syndrome, Mental Retardation with Hypoplastic 5th Fingernails and Toenails, and Short Stature-Onychodysplasia.
Characteristics
Characteristics
- feeding difficulties upon birth
- frequent respiratory infections during infancy
- hypotonia
- joint laxity
- delayed bone age
- mental retardation
- short fifth digits with hypoplastic or absent nails
- microcephaly
- coarse facial features, including wide nose, wide mouth, and thick eyebrows and lashes
Causes
Causes
Autosomal recessive inheritance is the most likely, but sporadic mutations and autosomal dominant cases may also occur.