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.
- feeding difficulties upon birth
- frequent respiratory infections during infancy
- joint laxity
- delayed bone age
- mental retardation
- short fifth digits with hypoplastic or absent nails
- coarse facial features, including wide nose, wide mouth, and thick eyebrows and lashes
inheritance is the most likely, but sporadic mutations
and autosomal dominant
cases may also occur.