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C35528Level 4

Wolf-Hirschhorn Syndrome

**Semantic type:** Disease or Syndrome

**Definition:** A genetic syndrome resulting from a partial deletion on the short arm of chromosome 4 (4p deletion syndrome). It is characterized by mental retardation, microcephaly, seizures, muscle hypotonia, a distinctive facial appearance with prominent forehead and wide set eyes, growth failure with malformations of the spine, hands, and feet, congenital heart defects, and genitourinary malformations.

**Synonyms:** - 4p Deletion Syndrome

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