Seckel Syndrome

**Semantic type:** Disease or Syndrome

**Definition:** A rare autosomal recessive inherited syndrome caused by mutations in the ATR gene, RBBP8 gene, CENPJ gene, CEP152 gene, CEP63 gene, NIN gene, DNA2 gene, or TRAIP gene. It is characterized by intrauterine growth retardation, dwarfism, microcephaly, mental retardation, and a "bird-headed" facial appearance.

**Synonyms:** - Bird-Headed Dwarfism - Microcephalic Primordial Dwarfism - Nanocephalic Dwarfism - SCKL - Seckel-Type Dwarfism