The Coffin-Siris syndrome.
We present the sixth reported case of the Coffin-Siris syndrome. This disorder is characterized by the absence of the nails of the fifth fingers and toes, severe mental and developmental retardation, and postnatal growth deficiency. Feeding and respiratory problems are prominent features. The Dandy-Walker malformation was found at autopsy in our patient. This malformation was also present in the only other patient with this syndrome whose autopsy has been reported.
D000015:Abnormalities, Multiple / Q000175:diagnosis*; D006130:Growth Disorders / Q000150:complications*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000150:complications*; D008297:Male; D008844:Micrognathism; D009056:Mouth Abnormalities; D009264:Nails, Malformed; D013577:Syndrome