{"orpha":728642,"name":"Genetic syndrome or malformation associated with head and neck malformations","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":[],"definition":null,"note":"This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.","url":"https://raremap.alftech.space/d/ORPHA-728642/","orphanet_url":"https://www.orpha.net/en/disease/detail/728642","names":{"fr":{"name":"Syndrome ou malformation génétique associé à des malformations de la tête et du cou"},"de":{"name":"Genetisches Syndrom oder Fehlbildung mit Kopf-Hals-Fehlbildungen"},"es":{"name":"Síndrome o malformación genética con afectación de cabeza y cuello"},"it":{"name":"Sindrome genetica o malformazione associata alle malformazioni della testa e del collo"},"nl":{"name":"Genetisch syndroom of genetische malformatie geassocieerd met malformaties van hoofd en hals"},"pt":{"name":"Genetic syndrome or malformation associated with head and neck malformations"},"pl":{"name":"Genetic syndrome or malformation associated with head and neck malformations"},"cs":{"name":"Genetic syndrome or malformation associated with head and neck malformations"}},"xrefs":[],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":183583,"name":"Genetic head and neck malformation","classifications":[156]}],"children":[{"orpha":2952,"name":"Adducted thumbs-arthrogryposis syndrome, Christian type","type":"Malformation syndrome"},{"orpha":1071,"name":"Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome","type":"Malformation syndrome"},{"orpha":1150,"name":"Arthrogryposis multiplex congenita-whistling face syndrome","type":"Malformation syndrome"},{"orpha":107,"name":"BOR syndrome","type":"Malformation syndrome"},{"orpha":116,"name":"Beckwith-Wiedemann syndrome","type":"Malformation syndrome"},{"orpha":1401,"name":"CHAND syndrome","type":"Malformation syndrome"},{"orpha":138,"name":"CHARGE syndrome","type":"Malformation syndrome"},{"orpha":1393,"name":"Cerebrocostomandibular syndrome","type":"Malformation syndrome"},{"orpha":1896,"name":"EEC syndrome","type":"Malformation syndrome"},{"orpha":363294,"name":"Genetic syndromic Pierre Robin syndrome","type":"Category"},{"orpha":276280,"name":"Hemihyperplasia-multiple lipomatosis syndrome","type":"Malformation syndrome"},{"orpha":694956,"name":"Intellectual disability-lymphoid hypertrophy-macrocephaly syndrome","type":"Malformation syndrome"},{"orpha":718,"name":"Isolated Pierre Robin sequence","type":"Malformation syndrome"},{"orpha":91397,"name":"Isolated ankyloblepharon filiforme adnatum","type":"Morphological anomaly"},{"orpha":458833,"name":"Isolated lymphatic malformation","type":"Disease"},{"orpha":2461,"name":"Marden-Walker syndrome","type":"Malformation syndrome"},{"orpha":1248,"name":"Maxillonasal dysplasia","type":"Malformation syndrome"},{"orpha":1600,"name":"Monosomy 18q syndrome","type":"Malformation syndrome"},{"orpha":2215,"name":"Multiple pterygium-malignant hyperthermia syndrome","type":"Malformation syndrome"},{"orpha":139039,"name":"Orofacial clefting syndrome","type":"Category"},{"orpha":140997,"name":"Orofaciodigital syndrome","type":"Clinical group"},{"orpha":90650,"name":"Otopalatodigital syndrome type 1","type":"Malformation syndrome"},{"orpha":90652,"name":"Otopalatodigital syndrome type 2","type":"Malformation syndrome"},{"orpha":294963,"name":"Popliteal pterygium syndrome","type":"Clinical group"},{"orpha":246,"name":"Postaxial acrofacial dysostosis","type":"Malformation syndrome"},{"orpha":1214,"name":"Progressive hemifacial atrophy","type":"Disease"},{"orpha":744,"name":"Proteus syndrome","type":"Malformation syndrome"},{"orpha":576278,"name":"SATB2-associated syndrome","type":"Malformation syndrome"},{"orpha":373,"name":"Simpson-Golabi-Behmel syndrome","type":"Malformation syndrome"},{"orpha":3205,"name":"Sturge-Weber syndrome","type":"Malformation syndrome"},{"orpha":2460,"name":"Van den Ende-Gupta syndrome","type":"Malformation syndrome"},{"orpha":888,"name":"Van der Woude syndrome","type":"Malformation syndrome"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}