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Multiple congenital anomalies (MCA)

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    3M Syndrome

    acrocallosal syndrome

    Acrofacial dysostosis

    AEC syndrome

    Alstrom syndrome

    Angelman syndrome

    Arthrogryposis renal dysfuntion and cholestasis

    Arts syndrome

    Asphyxiating thoracic dystrophy (Jeune syndrome)

    Bannayan-Riley-Ruvalcaba syndrome

    Baraitser-Winter syndrome

    Bardet-Biedl syndrome

    Basal cell nevus syndrome

    Blepharophimosis, epicantus inversus and ptosis

    Bohring-Opitz syndrome

    Branchio-oculo-facio syndrome (BOF)

    Brittle cornea syndrome

    Brunner syndrome

    Campomelic dysplasia

    Cardio-Facio-Cutaneous syndrome (CFC)

    Cerebrooculofacioskeletal syndrome

    CHARGE syndrome

    CHILD syndrome

    Chondrodysplasia punctata

    Ciliopathies (WES)

    CNV in WES / SNP-based array

    Cockayne syndrome

    Coffin-Lowry syndrome

    Coffin-Siris syndrome

    Cohen syndrome

    Cold-induced sweating syndrome

    Congenital aural atresia (CAA)

    Congenital cataracts with facial dysmorphism and neuropathy

    Congenital contractures of the limbs and face (CLIFAHDD)

    Congenital disorder of glycosylation

    Cornelia de Lange syndrome

    Costello syndrome

    Craniofacial anomalies (WES)

    Donnai-Barrow syndrome

    Dravet syndrome

    Duane-radial ray syndrome

    Epilepsy with neurodevelopmental defects (EPND)

    Faciogenital dysplasia (Aarskog-Scott syndrome)

    Familial hyperphosphatemic tumoral calcinosis

    Fibrochondrogenesis

    Floating-Harbor syndrome

    Frank-Ter Haar syndrome

    Galloway-Mowat syndrome

    Geleophysic dysplasia

    Genitopatellar syndrome

    Geroderma osteodysplasticum

    GM1-gangliosidosis

    Guttmacher syndrome

    Hartsfield syndrome

    Hereditary congenital facial paresis

    Hidrotic Ectodermal Dysplasia (Clouston)

    Holoprosencephaly

    Hydrolethalus syndrome

    Hypertrophic osteoarthropathy, primary

    Intellectual disability, autosomal dominant

    Intellectual disability, autosomal recessive

    Intellectual disability, syndromal

    Intellectual disability, X-linked

    IVIC syndrome

    Joubert syndrome

    Kabuki syndrome

    KBG syndrome

    Kleefstra syndrome (Chr 9q deletion)

    Koolen-De Vries syndrome

    Legius syndrome

    LEOPARD syndrome

    Limb-Mammary syndrome

    Loeys-Dietz syndrome

    Lujan-Fryns syndrome

    Lymphatic anomalies

    macrocephaly / megalencephaly syndrome

    MACS (Macrocefalic alopecia cutis laxa scoliosis)

    Mandibulofacial dysostosis

    Marinesco-Sjögren syndrome

    Marshall-Smith syndrome

    McKusick-Kaufman syndrome

    Meckel syndrome

    Mendelian inherited disorders (WES)

    Menkes disease

    Microphtalmia, syndromic

    Microphthalmia, isolated

    Microtia, hearing impairment, and cleft palate

    Mowat-Wilson syndrome

    Multiple pterygium syndrome

    Muscle-Eye-Brain disease

    Myasthenic syndrome

    Nance-Horan Syndrome

    Nijmegen breakage syndrome (NBS)

    Noonan syndrome / RASopathy

    Norrie disease

    Oculo-digito-esophageal-duodenal syndrome (Feingold)

    Ohdo syndrome

    Opitz G/BBB syndrome

    Opitz-Kaveggia syndrome

    Orofacial cleft

    Orofacial clefting (WES)

    Orofaciodigital syndrome

    Osteopathia striata with cranial sclerosis

    Otospondylomegaepiphyseal dysplasia

    Paget disease of bone 3

    Perlman syndrome

    Peters-plus syndrome

    Pitt-Hopkins syndrome (PTHS)

    Polysyndactyly

    Pontocerebellar hypoplasia

    Prader-Willi syndrome

    Primary failure of tooth eruption

    PTEN Hamartoma Tumor syndrome

    Rapp-Hodgkin syndrome

    Rett syndrome

    Roberts syndrome

    Robinow syndrome

    Rothmund-Thomson syndrome

    Schaaf-Yang syndrome

    Schinzel-Giedion syndrome

    Sensenbrenner syndrome

    SeSAME syndrome

    Short rib polydactyly syndrome

    SHORT syndrome

    Short-rib thoracic dysplasia

    Simpson-Golabi-Behmel syndrome

    Sjogren-Larsson syndrome

    Smith-Magenis syndrome

    Smith-McCort dysplasia

    Split hand/foot malformation (SFHM)

    Spondylocostal dysostosis

    Spondyloepimetaphysal dysplasia

    Spondyloepimetaphysal dysplasia

    Spondyloepiphyseal dysplasia

    Stickler syndrome

    Stuve-Wiedemann syndrome / Schwartz-Jampel type 2 syndrome

    Thrombocytopenia-Absent Radius (TAR) syndrome

    Townes-Brocks syndrome

    TP63 related disorders

    Treacher Collins-Franceschetti syndrome

    Trismus pseudocamptodactyly syndrome

    Ulnar-mammary syndrome

    van der Woude syndrome 2

    Vici syndrome

    Walker-Warburg (-like) syndrome

    Weaver syndrome

    Weill-Marchesani syndrome

    Werner syndrome

    Wiedemann-Steiner syndrome

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