Hypertrichosis of the elbow region may be the only abnormality in hype
rtrichosis cubiti (hairy elbow syndrome). Only 6 cases have been repor
ted; 2 Amish sibs also had additional short stature and, in the most r
ecent case report, a patient had asymmetry of the face, generalized hy
potonia, ptosis, epicanthic folds, highly arched palate, and delayed g
rowth and development. The child reported here also had asymmetry of f
acial growth, ptosis, delayed speech development, and hypertrichosis i
n a patchy distribution which included the elbow regions, face, trunk,
and thighs. There was no family history of hypertrichosis, and the ka
ryotype of cultured fibroblasts was normal in the skin of an area of h
ypertrichosis. These patients appear to have a distinct condition comp
ared to other hypertrichosis syndromes. (C) 1994 Wiley-Liss, Inc.