RIDDLE syndrome

A syndrome that is characterized by increased radiosensitivity, immunodeficiency, mild motor control and learning difficulties, facial dysmorphism, and short stature, and that has_material_basis_in homozygous or compound heterozygous mutation in the ring finge

A syndrome that is characterized by increased radiosensitivity, immunodeficiency, mild motor control and learning difficulties, facial dysmorphism, and short stature, and that has_material_basis_in homozygous or compound heterozygous mutation in the ring finger protein 168 (RNF168) gene on chromosome 3q29.

Signs and symptoms

• Short stature
• Dry skin
• Mild global developmental delay
• Increased sensitivity to ionizing radiation
• Ataxia
• Abnormal facial shape
• Immunodeficiency
• Decreased circulating IgG concentration
• Microcephaly
• Pulmonary fibrosis

Also known as: RNF168 deficiency; Radiosensitivity-immunodeficiency-dysmorphic features-learning difficulties syndrome