Facial dysmorphisms, mental retardation, absent speech and genital abnormalities

ATR-X syndrome, the second cause of X-linked mental retardation, is characterized by facial dysmorphisms, genital abnormalities, alpha-thalassaemia and gastro-intestinal disorders. Psychomotor development appears to be delayed from early childhood; mental retardation is usually severe, with virtually absent speech and minimal comprehension. The face can be described as coarse with hypertelorism, epicanthic folds, flat nasal bridge, midface hypoplasia, small triangular upturned nose with anteverted nares and flat philtrum, an inverted V shape of the upper lip and everted lower lip giving the mouth a "carp-like" appearance. Gastro-intestinal problems are very common; recurrent vomiting or regurgitation and constipation frequently affect the children.