Cornelia de Lange syndrome (typus degenerativus amstelodamensis, CdLS, Brachmann syndrome) is a complex, congenital, multi-gene anomaly characterized by mental retardation. Its features include growth inhibition, hirsutism, structural anomalies of the limbs and abnormal development of osseous structures of the face. Independent of the phenotype of the disease, 85% of patients are assumed to hav...