ORPHA:728642
Genetic syndrome or malformation associated with head and neck malformations
- Type
- Category
- Group
- Group of disorders
- Status
- active
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.
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Names in Orphadata languages
9 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Genetic syndrome or malformation associated with head and neck malformations | |
| fr | Syndrome ou malformation génétique associé à des malformations de la tête et du cou | |
| de | Genetisches Syndrom oder Fehlbildung mit Kopf-Hals-Fehlbildungen | |
| es | Síndrome o malformación genética con afectación de cabeza y cuello | |
| it | Sindrome genetica o malformazione associata alle malformazioni della testa e del collo | |
| nl | Genetisch syndroom of genetische malformatie geassocieerd met malformaties van hoofd en hals | |
| pt | Genetic syndrome or malformation associated with head and neck malformations | |
| pl | Genetic syndrome or malformation associated with head and neck malformations | |
| cs | Genetic syndrome or malformation associated with head and neck malformations |
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Cross-references
qualifier = Orphanet mapping relationNo cross-references in this release.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:183583Genetic head and neck malformation
rare genetic diseases
Children (32):
- ORPHA:2952Adducted thumbs-arthrogryposis syndrome, Christian type
- ORPHA:1071Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
- ORPHA:1150Arthrogryposis multiplex congenita-whistling face syndrome
- ORPHA:107BOR syndrome
- ORPHA:116Beckwith-Wiedemann syndrome
- ORPHA:1401CHAND syndrome
- ORPHA:138CHARGE syndrome
- ORPHA:1393Cerebrocostomandibular syndrome
- ORPHA:1896EEC syndrome
- ORPHA:363294Genetic syndromic Pierre Robin syndrome
- ORPHA:276280Hemihyperplasia-multiple lipomatosis syndrome
- ORPHA:694956Intellectual disability-lymphoid hypertrophy-macrocephaly syndrome
- ORPHA:718Isolated Pierre Robin sequence
- ORPHA:91397Isolated ankyloblepharon filiforme adnatum
- ORPHA:458833Isolated lymphatic malformation
- ORPHA:2461Marden-Walker syndrome
- ORPHA:1248Maxillonasal dysplasia
- ORPHA:1600Monosomy 18q syndrome
- ORPHA:2215Multiple pterygium-malignant hyperthermia syndrome
- ORPHA:139039Orofacial clefting syndrome
- ORPHA:140997Orofaciodigital syndrome
- ORPHA:90650Otopalatodigital syndrome type 1
- ORPHA:90652Otopalatodigital syndrome type 2
- ORPHA:294963Popliteal pterygium syndrome
- ORPHA:246Postaxial acrofacial dysostosis
- ORPHA:1214Progressive hemifacial atrophy
- ORPHA:744Proteus syndrome
- ORPHA:576278SATB2-associated syndrome
- ORPHA:373Simpson-Golabi-Behmel syndrome
- ORPHA:3205Sturge-Weber syndrome
- ORPHA:2460Van den Ende-Gupta syndrome
- ORPHA:888Van der Woude syndrome
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
0 recordsNo prevalence record in this release.
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HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/728642
- This record as JSON: /data/d/728642.json