Conditions / Syndrome
immunodeficiency-centromeric instability-facial anomalies syndrome 1
info · Syndrome · ICD-10: D84.8
An immunodeficiency-centromeric instability-facial anomalies syndrome characterized by autosomal recessive inheritance, facial dysmorphism and immunoglobulin deficiency of lymphocytes that has_material_basis_in homozygous or compound heterozygous mutation in t
An immunodeficiency-centromeric instability-facial anomalies syndrome characterized by autosomal recessive inheritance, facial dysmorphism and immunoglobulin deficiency of lymphocytes that has_material_basis_in homozygous or compound heterozygous mutation in the DNMT3B gene on chromosome 20q11.2.
Signs and symptoms
- Short nose
- Epicanthus
- Malabsorption
- Short stature
- Anteverted nares
- Protruding tongue
- Increased circulating IgM concentration
- Flat face
- Failure to thrive
- Hypertelorism
Also known as: ICF syndrome 1