1. Articles on malformation

Malformation

CENTOGENE gives the highest priority to the pre- and post-natal molecular diagnostics of malformation and retardation syndromes. Genetic testing for these syndromes can aid early diagnosis, improved treatment and the best possible outcomes for the patient.

Articles on malformation

  • Arthrogryposis

    Arthrogryposis is a clinical feature of joint contractures and resulting restriction of movements and is characteristic for more than 300 different disorders. Arthrogryposis, e.g. congenital contractures, can be isolated contractures, affecting only a single area of the body, or multiple. The most…

  • Dyskeratosis congenita with a novel variant in the DKC1 gene

    Dyskeratosis congenita (DC) is a rare genetic disorder of bone marrow failure inherited in an X-linked, autosomal dominant or autosomal recessive pattern. It has a wide array of clinical features and patients may be cared for by many medical sub specialties.

  • Cornelia de Lange syndrome panel

    Cornelia de Lange syndrome (CdLS) is a rare inherited multisystem developmental disorder characterized by distinctive craniofacial features, growth retardation with prenatal onset, intellectual disability, limb malformations, hirsutism, sensorineural hearing loss, myopia, nystagmus and…

  • Meckel syndrome panel

    Meckel syndrome (MES), also known as Meckel-Gruber syndrome, belongs to the group of ciliopathies, caused by dysfunction of primary cilia during embryogenesis.

  • Microcephaly

    Seckel syndrome is rare autosomal recessive disorder characterized by intrauterine growth retardation, dwarfism, microcephaly with mental retardation, and a characteristic 'bird-headed' facial appearance. The major feature of Seckel syndrome is associated autosomal recessive primary microcephaly…