Uppsala University Hospital
Sweden
Ear Nose and Throat and Craniofacial disorders
ERN Member
Amelogenesis imperfecta; Cleidocranial dysostosis; Congenital facial nerve palsy/ isolated hereditary congenital paralysis, Moebius syndrome; craniofacial clefts; dentinogenesis imperfecta, dentine dysplasia; encephaloceles; eruption, resorption, early lo

Centre full expertise: Amelogenesis imperfecta; Cleidocranial dysostosis; Congenital facial nerve palsy/ isolated hereditary congenital paralysis, Moebius syndrome; craniofacial clefts; dentinogenesis imperfecta, dentine dysplasia; encephaloceles; eruption, resorption, early loss teeth; facial dysostosis; hypodontia, oligodontia, supernumerary teeth; Isolated and syndromic Robin sequence; Isolated cleft lip/palate; Isolated craniosynostosis; Neurofibromatosis; Solitary median maxillary central incisor syndrome; supernumerary teeth; syndromic cleft lip/palate; syndromic craniosynostosis; tongue anomalies

The centre is a full member of ERN-CRANIO.

ERN-CRANIO covers rare and/or complex craniofacial anomalies and ear, nose and throat (ENT) disorders.

Expertise: Craniosynostosis; Craniofacial clefts; Encephaloceles; Fibrous Dysplasia; Neurofibromatosis; Craniofacial Microsomia; Aplasia Cutis; Facial Dysostosis; Microtia; Facial nerve palsy; Tongue anomalies; 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; Orodental anomalies as one of the presentations of at least 900 rare diseases or syndromes: Amelogenesis imperfecta; Hypodontia/oligodontia/supernumerary teeth; Dentinogenesis imperfecta/dentine dysplasia; Eruption/resorption/early loss teeth; Solitary median maxillary central incisor syndrome; Cleidocranial dysostosis; Genetic and isolated hearing loss; Laryngotracheal stenosis; Laryngotracheo-esophageal cleft; Congenital nasal anomalies; Congenital anomalies of the neck. Updated list here

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Amelogenesis imperfecta; Cleidocranial dysostosis; Congenital facial nerve palsy/ isolated hereditary congenital paralysis, Moebius syndrome; craniofacial clefts; dentinogenesis imperfecta, dentine dysplasia; encephaloceles; eruption, resorption, early loss teeth; facial dysostosis; hypodontia, oligodontia, supernumerary teeth; Isolated and syndromic Robin sequence; Isolated cleft lip/palate; Isolated craniosynostosis; Neurofibromatosis; Solitary median maxillary central incisor syndrome; supernumerary teeth; syndromic cleft lip/palate; syndromic craniosynostosis; tongue anomalies