Sotos
syndrome and Weaver syndrome are both overgrowth syndromes
beginning usually prenatally. Such overgrowth continues during
childhood. These two syndromes are similar in many respects; in
respect to overgrowth, mental retardation, large hands and feet,
advanced bone age, and tall stature but, usually, adult height
within the normal advanced percentiles. However, they do differ
in certain subtle respects. The patient with
Sotos syndrome (cerebral gigantism) has a head that is
dolichocephalic. The occiput tends to be flat in the
patients with Weaver syndrome. The face tends to be
smaller. There are hypoplastic facial bones and
macrognathia in Weaver syndrome, but pointed chin and normal
mandibular development prompts one to think more of
Sotos syndrome. The joints are
limited in motion often in Weaver syndrome with limited elbow,
ankle, wrist, hip, and knee extension. The long bones are
widened or splayed in Weaver syndrome and camptodactyly is
frequent. Further details concerning these two syndromes
can be pulled from the pediatric database, although the update
listed is 1994 (http://www.icondata.com/health/pedbase/files/sotosynd.htm
- or - weaversy.htm. Comparable data can also be found on
the web at http://www.nlm.nih.gov. At this web site you
will have a choice to enter “Weaver”.
Robert M. Blizzard, MD