It is believed to be caused by defects of genes on chromosome 3 and 18. One form of<unk>  can be caused by mutation in the gene encoding the ataxia telangiectasia and Rad3-related protein () which maps to chromosome 3q22.1-q24. This gene is central in the cell's DNA damage response and repair mechanism. Types include: Type OMIM Gene Locus SCKL1 ATR 3q22-q24 SCKL2 ? 18p11-q11 SCKL3 ? 14q SCKL4 CENPJ 13q12
Seckel syndrome
Meckel–Gruber syndrome
Familial multiple intestinal atresia
Ackerman syndrome
Van Gogh syndrome
Hartnup disease
Silver–Russell syndrome
Scheuermann's disease