We present 4 brothers with developmental delay, minor anomalies, and symptoms due to gastrointestinal dysmotility. There was some resemblance with
FG syndrome, although none of the brothers had sufficient findings to make this diagnosis. The index case presented with at age 1 month with screaming episodes, mild
gastro-esophageal reflux (GER), and severe
constipation. Esophageal manometry studies were consistent with the diagnosis of "
nutcracker esophagus." Symptomatic and manometric improvement followed treatment with oral
calcium channel blockers. Two older and less severely affected brothers had similar manometric findings but did not require treatment. A fourth brother with symptoms in infancy now has normal esophageal manometry findings. These boys in all likelihood have an X-linked syndrome with manifestations of
FG syndrome, in which treatment with
calcium channel blockers, produces clinical and manometric improvement. The
FG syndrome is an X-linked syndrome of multiple congenital anomalies/
mental retardation with facultative manifestations of gastrointestinal dysmotility, including
gastro-esophageal reflux, severe feeding difficulties, and
constipation.
Esophageal dysmotility, in particular "
nutcracker esophagus," should be suspected in infants with the
FG syndrome and screaming attacks.