Facial appearance

Many syndromes, for example Downs, are associated with a recognisable facial appearance. This is true also of ATR-X syndrome, though the characteristic facial appearance is easier to recognise in early childhood. The head size is often small (microcephaly), the eyes widely spaced, the bridge of the nose rather broad and flat, the nose itself is small, triangular and upturned at the end. The upper lip has a tented appearance and the lower lip is full and everted.