Mutations in four genes can cause this syndrome: Cell division cycle associated protein 7 (CDCA7), DNA-methyltransferase 3b (DNMT3B), Lymphoid specific helicase (HELLS) and Zinc finger- and BTB domain containing protein 24 (ZBTB24). The CDCA7 gene is located on chromosome 2 (2q31.1). The DNMT3B gene is located on chromosome 20 (20q11.2)). The HELLS gene is located on chromosome 10 (10q23.33) The ZBTB24 gene is located on chromosome 6 (6q21) This disease is inherited in an autosomal recessive manner.
Immunodeficiency–centromeric instability–facial anomalies syndrome
Cerebral dysgenesis–neuropathy–ichthyosis–keratoderma syndrome
Ectrodactyly–ectodermal dysplasia–cleft syndrome
SAPHO syndrome
Kabuki syndrome
Orofaciodigital syndrome
Combined immunodeficiencies
Chromosome instability syndrome