MVA2 syndrome is a rare autosomal recessive disorder characterized by the presence of a variable percentage (25–50%) of chromosome gains and losses in somatic cells, leading to constitutional mosaic aneuploidies especially trisomies, double trisomies, and monosomies.
MVA2 syndrome is characterized by a complex phenotype that includes pre and postnatal growth retardation, characteristic facial features with triangular face, prominent forehead, small jaw, low set ears and sparse hair. Cardiac, vascular and skeletal manifestations also seem to be part of the phenotype, as well as endocrine abnormalities such as hypothyroidism and GH deficiency with or without pituitary anomalies. A higher risk of embryonal tumours has not been observed in these patients.
CEP57