label: Distal 18q Deletion Syndrome
label_lc: distal 18q deletion syndrome
description: A contiguous gene deletion syndrome involving deletion of the distal portion of the long arm of chromosome 18. The clinically heterogenous condition is characterized by some or all of the following: growth hormone deficiency with resulting short stature; hand, foot, skull, facial, and genital anomalies; hypotonia; and developmental delay.