Chapter 34 - Coffin–Siris Syndrome

Abstract

This chapter focuses on Coffin–Siris syndrome. This syndrome is characterized by defects in the skin, hair, brain, cerebellum, brain stem nuclei, and the nails and skeleton of fifth digits. Consistent features include developmental delay, abnormal facies, absent fifth distal phalanx, hypoplastic nails, hypotonia, and body hypertrichosis. Very common features are postnatal growth deficiency, feeding difficulties, microcephaly, and scalp hypotrichosis. The genetics of the Coffin–Siris syndrome continue to be of major interest. One phenotypically similar patient has been described with partial trisomy 9. In cases of Coffin–Siris syndrome, no chromosomal abnormalities have been described despite the suggestions about its inheritance patterns. The genetics of the Coffin–Siris syndrome continue to be of major interest. Only with careful clinical descriptions correlated with well-documented neuropathologic material and genetic studies can this syndrome be better understood. At present, there is no specific therapy and management is only symptomatic.