DIAGNOSIS AND FOLLOW-UP OF COMPLEX CONGENITAL MALFORMATIONS/MENTAL RETARDATION(MRA/MR)

Complex congenital malformations, associated in 30% of cases with mental retardation, recognize different etiologies: environmentalcauses, mendelian disease, chromosomal abnormalities, imprinted anomalies. Frequently complex congenital disordersare rare diseases. Rare diseases are infrequent pathological conditions (prevalence in the general population of less than 1/2.000live births1), and often poorly understood. Because of their rarity these morbid conditions often either go undiagnosed or are diagnosedlate with a negative impact for both the affected person and the family. The birth prevalence is high (2-4% of all births). Thediagnosis is essential to program complex and integrated care interventions (follow-up programs aimed at early detection of anydisease associated with different syndromes) and to carry out proper genetic family counseling (risk of recurrence, prenatal diagnosis,detection of heterozygotes etc).