Distal 18q Deletion Syndrome

**Semantic type:** Disease or Syndrome

**Definition:** 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.

**Synonyms:** - 18q partial monosomy syndrome