Diagnoslista/länkar
Lista över diagnoser som expertteamet ansvarar för samt länkar till diagnosbeskrivningar.
Diagnoser teamet ansvarar för med Orphakoder?
Craniosynostoser
Craniosynostosis and other craniofacial anomalies
Fibrous Dysplasia
https://www.socialstyrelsen.se/kunskapsstod-och-regler/omraden/sallsynta-halsotillstand/fibrodysplasia-ossificans-progressiva/
Isolated craniosynostosis ORPHA:139390
Isolated craniosynostosis ORPHA:139390
Craniofacial clefts; facial dysostosis; encephaloceles; congenital skull defects
Cleft Lip/Palate / Orodental anomalies
Cleft lip/palate
Non-syndromic cleft palate
Non-syndromic cleft lip/palate
Syndromic cleft palate
Syndromic cleft lip/palate
Robin sequence
Disorders with cleft lip/palate as important feature
Median facial cleft ORPHA:141234
Oblique facial cleft ORPHA:141253
Frontonasal dysplasiaORPHA:250
Proboscis lateralis ORPHA:141099
Treacher-Collins syndrome ORPHA:861
Nager syndrome ORPHA:245
Postaxial acrofacial dysostosis ORPHA:246
Cleidocranial dysplasia ORPHA:1452
SCALP syndrome ORPHA:370052
Craniofacial microsomia; microtia; cong facial nerve palsy
Oculo-auriculo-vertebral spectrumORPHA:141132
X-linked mandibulofacial dysostosis ORPHA:1131
Paralytic facial malformation ORPHA:156224
Goldenhar Syndrom
Moebius
Robin sequence; cleft lip/palateIsolated
Pierre Robin syndrome ORPHA:718
Rare disease with Pierre Robin syndrome ORPHA:138044
Cleft lip with or without cleft palate ORPHA:1991
Cleft palate ORPHA:2014
Odontologic disorders
Orodental anomalies 900 rare diseases or syndromes.
Amelogensis imperfecta
Hypodontia/oligodontia/supernumeracy teeth
Dentinogenesis imperfecta/dentine dysplasia
Eruption/resorption/early loss teeth
Solitary median maxillary central incisor syndrome
Cleideocranial dysostosis
Rare odontal or periodontal disorder ORPHA:164001
(ENT disorders Tas ej omhand av Kranioteamet, fråga ÖNH)
Genetic and isolated hearing loss
Laryngotracheal stenosis
Laryngotracheo-esophageal cleft
Congenital nasal anomalies
Congenital anomalies of the neck
Pinnae and external auditory canal anomaly ORPHA:156243
Larynx anomaly ORPHA:156249
Tracheal anomaly ORPHA:156252
Rare deafness ORPHA:68361
Rare odontal or periodontal disorder ORPHA:164001
Enligt Informationscentrum så är nedan fetarkerade diagnoser sorterade under kraniofaciala diagnoser, resterande diagnoser dök upp om man söker på kraniofacialt i kunskapsdatabasen
Saethre-Chotzens syndrome https://www.socialstyrelsen.se/kunskapsstod-och-regler/omraden/sallsynta-halsotillstand/saethre-chotzens-syndrom/
Coruzons syndrome https://www.socialstyrelsen.se/kunskapsstod-och-regler/omraden/sallsynta-halsotillstand/crouzons-syndrom/
Pfeiffers syndrome https://www.socialstyrelsen.se/kunskapsstod-och-regler/omraden/sallsynta-halsotillstand/pfeiffers-syndrom/
Aperts syndrome https://www.socialstyrelsen.se/kunskapsstod-och-regler/omraden/sallsynta-halsotillstand/aperts-syndrom/
Kardiofaciokutant syndrom
https://www.socialstyrelsen.se/kunskapsstod-och-regler/omraden/sallsynta-halsotillstand/kardiofaciokutant-syndrom/
Orofaciodigitalt syndrom I och II:
https://www.socialstyrelsen.se/kunskapsstod-och-regler/omraden/sallsynta-halsotillstand/orofaciodigitalt-syndrom-i-och-ii/
Loeys-Dietz syndrom
https://www.socialstyrelsen.se/kunskapsstod-och-regler/omraden/sallsynta-halsotillstand/loeys-dietz-syndrom/
Smith-Magenis syndrom
https://www.socialstyrelsen.se/kunskapsstod-och-regler/omraden/sallsynta-halsotillstand/smith-magenis-syndrom/
Brankiookulofacialt syndrom
https://www.socialstyrelsen.se/kunskapsstod-och-regler/omraden/sallsynta-halsotillstand/brankiookulofacialt-syndrom/
Williams syndrom
https://www.socialstyrelsen.se/kunskapsstod-och-regler/omraden/sallsynta-halsotillstand/williams-syndrom/
Axenfeld-Riegers syndrom
Axenfeld-Riegers syndrom - Socialstyrelsen
Cat eye-syndrome
Cat eye-syndromet - Socialstyrelsen
Aarskogs syndrom
https://www.socialstyrelsen.se/kunskapsstod-och-regler/omraden/sallsynta-halsotillstand/aarskogs-syndrom/
Mowat-Wilsons syndrom
https://www.socialstyrelsen.se/kunskapsstod-och-regler/omraden/sallsynta-halsotillstand/mowat-wilsons-syndrom/
Orofaciodigitalt syndrom I och II
https://www.socialstyrelsen.se/kunskapsstod-och-regler/omraden/sallsynta-halsotillstand/orofaciodigitalt-syndrom-i-och-ii/