Home > European References Networks > CRANIO – European Reference Network for Craniofacial Anomalies and ENT Disorders

CRANIO – European Reference Network for Craniofacial Anomalies and ENT Disorders

Congenital craniofacial anomalies consist of developmental malformations of part of the brain, skull and/or face and ear/nose and throat districts, which are associated with relevant functional and psychosocial problems. These patients require care from birth through adulthood. Knowledge, clinical and public, of many of these conditions is scarce and therefore formulating a correct diagnosis can be extremely challenging.
The ERN CRANIO aims to fill many of these gaps regarding the management of these patients. The network aims to create training courses on many of the craniofacial anomalies through an open website.
Network members are working together to improve education, professional training, and research also in close collaboration with patient organizations. For conditions for which there are no patient organizations yet, patient focus groups will be consulted. ERN CRANIO is analyzing participating centers the timing and type of surgery to shed light on the clinical impact of the intervention and on the best clinical practices available in Europe.
Thanks to the collection of the long-term outcomes of the different conditions, the ERN CRANIO will be able to support the counseling of patients and parents and will also direct the focus of treatment in areas that have received too little attention until now. Finally, the ERN CRANIO aims to promote the search for new genes responsible for these pathologies, increasing the number of participants in scientific studies.

Related Structures

UOC Otorinolaringoiatria
UOC Genetica Clinica Epidemiologica
UOC Clinica Pediatrica
UOC Neurochirurgia
UOC Clinica di Odontostomatologia
UOC Neuroradiologia
UOC Clinica Ginecologica Ostetrica
UOC Chirurgia Maxillo Facciale
UOSD Anestesiologia Pediatrica

Desease list

Code ORPHACode ERNDenomination
Central maxillary median incisor syndrome
ICD-10:K00.1Supernumerary teeth
ICD-10:K00.6Early tooth eruption/resorption/loss
ICD-10:Q18.9Congenital anomalies of the neck
ORPHA: 141132Oculo-auriculo-vertebral spectrum (craniofacial microsomia)
ORPHA: 88661Amelogenesis imperfecta
ORPHA:1114Aplasia cutis
ORPHA:139390 Isolated craniostenosis
ORPHA:139393Syndromic craniostenosis
ORPHA:141121Congenital subglottic stenosis
ORPHA:141127Congenital tracheal stenosis
ORPHA:141229Craniofacial cleft
ORPHA:1452Cleidocranial dysostosis
ORPHA:156212Hypoglossia / Aglossia
ORPHA:156246Congenital anomalies of the nose
ORPHA:1653Dentine dysplasia
ORPHA:1931Frontal encephalocele
ORPHA:1991Cleft lip without cleft palate (syndromic and nonsyndromic)
ORPHA:2004Laryngo-tracheoesophageal cleft
ORPHA:2014Cleft palate (syndromic and nonsyndromic)
ORPHA:245Facial dysostosis (Treacher Collins + Nagersyndrome)
ORPHA:249Fibrous Dysplasia of Bone (craniofacial presentation)
ORPHA:250Frontonasal dysplasia
ORPHA:268829Basal encephalocele
ORPHA:306527Congenital hereditary isolated facial paralysis
ORPHA:363294Pierre Robin syndromic genetics
ORPHA:49042Dentinogenesis imperfecta
ORPHA:570Möbius syndrome
ORPHA:636Neurofibromatosis type 1 (craniofacial presentation)
ORPHA:718Pierre Robin Isolated
ORPHA:861Facial dysostosis (Treacher Collins + Nagersyndrome)
ORPHA:87884Non-syndromic genetic hearing loss