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About this cause:Coffin-Siris syndrome (CSS) is characterized by aplasia or hypoplasia of the distal phalanx or nail of the fifth digit, distinctive facial features, and moderate to severe developmental/cognitive delay. Expressive language is more severely affected than receptive language. On average, children with CSS learn to sit at 12 months, walk at 30 months, and speak their first words at 24 months. Other findings commonly include failure to thrive, feeding difficulties, short stature, ophthalmologic abnormalities, microcephaly, brain malformations, and hearing loss.
Currently there are only 160 cases recorded.