Summary
Coffin-Siris syndrome is characterized by the association of absent fifth finger and toenails with intellectual deficit. Other signs include microcephaly, coarse facial features, sparse scalp hair, early feeding problems, recurrent respiratory infections, short stature and growth deficiency. Only about 40 cases have been described in the literature, and the etiology of the disease remains uncertain. The most likely mode of inheritance is autosomal recessive and the recurrence risk is 25% for sibs of an index case. Children with this syndrome must receive symptomatic care, which may involve parenteral feeding and treatment of gastro-esophageal reflux. *Author: Orphanet (October 2004)*.
