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RESEARCH PRODUCT

Diagnosis and follow-up of complex congenital malformations/mental retardation (MRA/MR)

subject

description

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