THE COFFIN-SIRIS (CS) SYNDROME

Abstract

In 1970, a distinct pattern of malformation involving severe mental retardation, a characteristic facial appearance, sparse scalp hair with eyebrow and eyelash hypertrichosis, and absent fifth fingernails was described in 3 unrelated girls. Only 2 additional cases have been reported, suggesting that the syndrome is rare. All reported cases have been sporadic events and no mode of inheritance or etiologic factor has been determined. We have evaluated 5 additional individuals with the CS syndrome. Two of our cases were siblings, a boy, whom we examined, and his deceased sister who, by photographs, clearly had the disorder. Neither of the unrelated parents had any manifestation of the syndrome, suggesting that the CS syndrome is inherited in an autosomal recessive fashion. A compilation of all the known cases permits a further delineation of the full spectrum of the syndrome and of the frequency of certain features. Mental retardation, nail hypoplasia and hypotonia occurred in all reported cases. The craniofacial features are very consistent: scalp alopecia (87.5%), microcephaly (80%), eyebrow and eyelash hypertrichosis (70%), snd prominent lips (80%). A short philtrum, not previously mentioned as a facial feature, occurred in 50% of the cases. Other clinical features include postnatal growth deficiency (90%), scoliosis (40%) and congenital heart disease (30%). In view of our series of new cases the extreme rarity of the CS syndrome may be overemphasized. It is quite feasible that this syndrome is often confused with the fetal hydantoin and the Cornelia de Lange syndromes.