Congenital craniofacial anomalies include children born with underdeveloped or maldeveloped parts of their brain, skull and/or face that result in significant functional problems and psychosocial challenges. Patients require follow-up and treatment from birth into adulthood. Clinical and public knowledge of many of these presentations is low, and diagnosis can be extremely challenging.

This ERN addresses several gaps in care by significantly improving familiarity of primary caregivers with craniofacial anomalies. The network is developing instructional courses on numerous conditions to be made available through an open access website.

Members are working together to improve education, training and research in close collaboration with patient organisations. Where no patient organisation exists, focus groups of patients are consulted. ERN CRANIO is evaluating the type and timing of surgical treatment at participating centres to shed light on their impact and benchmark best practices in Europe.

By collecting data on long-term outcomes of the various conditions, the network will aid in counselling patients and parents and can direct the focus of treatment to areas that have received too little attention. The network will support the detection of new causative genes by increasing the numbers of participants in research studies.

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Filter list publications

TitleAuthorsDateKeywordsIssue name
Rare dentin defects: Understanding the pathophysiological mechanisms of COLXVA1 mutations.Bugueno IM, Rey T, Jimenez-Armijo A, Kawczynski M, Kharouf N, Manière MC, Herault Y, Bloch-Zupan A, Haushalter-Laugel V2024-09-01Genes & diseases
Orofacial Anomalies in Kindler Epidermolysis Bullosa.Krämer S, Hillebrecht AL, Wang Y, Badea MA, Barrios JI, Danescu S, Fuentes I, Kartal D, Klausegger A, Ponce de León E, Schilke R, Yordanova I, Bloch-Zupan A, Has C2024-03-20JAMA dermatology
The Rogdi knockout mouse is a model for Kohlschütter-Tönz syndrome.Jimenez-Armijo A, Morkmued S, Ahumada JT, Kharouf N, de Feraudy Y, Gogl G, Riet F, Niederreither K, Laporte J, Birling MC, Selloum M, Herault Y, Hernandez M, Bloch-Zupan A2024-01-03Scientific reports
Guideline on Treatment and Management of Craniosynostosis: Patient and Family Version.Faasse M, Mathijssen IMJ2024-01-01The Journal of craniofacial surgery
Objective quantitative methods to evaluate microtia reconstruction: A scoping review.Lin Y, Ronde EM, van den Brule KEJ, Lachkar N, van Etten-Jamaludin FS, Smit TH, Breugem CC2023-12-01Microtia, Objective evaluation, Systematic reviewJPRAS open
Guidance to develop a multidisciplinary, international, pediatric registry: a systematic review.Ombashi S, van der Goes PAJ, Versnel SL, Khonsari RH, van der Molen AEM2023-09-21Orphanet journal of rare diseases
Growth patterns and outcomes of growth hormone therapy in patients with acrodysostosis.Ertl DA, Mantovani G, de Nanclares GP, Elli FM, Pereda A, Pagnano A, Sanchis A, Cueto-Gonzalez AM, Berrade S, León MC, Rothenbuhler A, Audrain C, Berkenou J, Knight N, Dolman K, Gleiss A, Argente J, Linglart A2023-08-01Acrodysostosis, Auxology, Inactivating PTH/PTHrP signaling disorders, Pediatric, Recombinant human growth hormone, SGA, Short statureJournal of endocrinological investigation
Should testing for mosaic genome-wide paternal uniparental disomy in Beckwith-Wiedemann spectrum (BWSp) be implemented in diagnostic testing?Maas SM, Krzyzewska IM, Lombardi MPR, Mannens MMA, Vos N, Bliek J2023-06-01European journal of human genetics : EJHG
Primary failure of eruption: From molecular diagnosis to therapeutic management.Wagner D, Rey T, Maniere MC, Dubourg S, Bloch-Zupan A, Strub M2023-03-01Case report, PTH1R gene, Primary failure of eruption, Tooth resorptionJournal of oral biology and craniofacial research
French national diagnosis and care protocol (PNDS, protocole national de diagnostic et de soins): cystic lymphatic malformations.Leboulanger N, Bisdorff A, Boccara O, Dompmartin A, Guibaud L, Labreze C, Lagier J, Lebrun-Vignes B, Herbreteau D, Joly A, Malloizel-Delaunay J, Martel A, Munck S, Saint-Aubin F, Maruani A2023-01-13Complications, Cystic lymphatic malformations, Treatment, Vascular anomaliesOrphanet journal of rare diseases
Amelogenesis imperfecta: Next-generation sequencing sheds light on Witkop's classification.Bloch-Zupan A, Rey T, Jimenez-Armijo A, Kawczynski M, Kharouf N, Dure-Molla M, Noirrit E, Hernandez M, Joseph-Beaudin C, Lopez S, Tardieu C, Thivichon-Prince B, Dostalova T, Macek M, Alloussi ME, Qebibo L, Morkmued S, Pungchanchaikul P, Orellana BU, Manière MC, Gérard B, Bugueno IM, Laugel-Haushalter V2023-01-01NGS, amelogenesis imperfecta, enamel, genetics, next-generation sequencing, rare diseasesFrontiers in physiology
Correspondence on "Loss-of-function and missense variants in NSD2 cause decreased methylation activity and are associated with a distinct developmental phenotype" by Zanoni et al.Cueto-González AM, Fernández-Álvarez P, Palafoll IV, Lasa-Aranzasti A, Vendrell Bayona T, Tizzano EF2022-03-01Genetics in medicine : official journal of the American College of Medical Genetics
Mosaic Variegated Aneuploidy syndrome 2 caused by biallelic variants in CEP57, two new cases and review of the phenotype.Santos-Simarro F, Pacio M, Cueto-González AM, Mansilla E, Valenzuela-Palafoll MI, López-Grondona F, Lledín MD, Schuffelmann C, Del Pozo Á, Solis M, Vallcorba P, Lapunzina P, Menéndez Suso JJ, Siccha SM, Montejo JM, Mena R, Jiménez-Rodríguez C, García-Miñaúr S, Palomares-Bralo M2021-11-01CEP57, Cancer predisposition, Cardiovascular malformations, Growth retardation, MVA2European journal of medical genetics
Periodontal (formerly type VIII) Ehlers-Danlos syndrome: Description of 13 novel cases and expansion of the clinical phenotype.El Chehadeh S, Legrand A, Stoetzel C, Geoffroy V, Billon C, Adham S, Jeunemaître X, Jaussaud R, Muller J, Schaefer E, Benistan K, Gaertner S, Bloch-Zupan A, Courval A, Manière MC, Petit C, Bursztejn AC, Bal L, Reyre A, Chammas A, Busa T, Dollfus H, Lipsker D2021-08-01Ehlers-Danlos syndrome periodontal type, Ehlers-Danlos syndrome type VIII, aneurysm, aortic dissection, persistent ulcers, tooth loss, vascular complications, venous insufficiencyClinical genetics
Craniosynostosis: Monobloc Distraction with Internal Device and Its Variant for Infants with Severe Syndromic Craniosynostosis.Paternoster G, Haber SE, Khonsari RH, James S, Arnaud E2021-07-01Craniofacial dysostosis, Distraction osteogenesis, Exorbitism, Faciocraniosynostosis, Frontofacial monobloc advancement, Sleep apnea, Syndromic craniosynostosis, TracheostomyClinics in plastic surgery
European Reference Networks: challenges and opportunities.Tumiene B, Graessner H, Mathijssen IM, Pereira AM, Schaefer F, Scarpa M, Blay JY, Dollfus H, Hoogerbrugge N2021-04-01Journal of community genetics
Delineation of the clinical and radiological features of Stuve-Wiedemann syndrome childhood survivors, four new cases and review of the literature.Siccha SM, Cueto AM, Parrón-Pajares M, González-Morán G, Pacio-Miguez M, Del Pozo Á, Solís M, Rodriguez-Jimenez C, Caino S, Fano V, Heath KE, García-Miñaúr S, Palomares-Bralo M, Santos-Simarro F2021-03-01LIFR, Stuve-Wiedemann syndrome, dysautonomia, skeletal abnormalitiesAmerican journal of medical genetics. Part A
Deficiency of the SMOC2 matricellular protein impairs bone healing and produces age-dependent bone loss.Morkmued S, Clauss F, Schuhbaur B, Fraulob V, Mathieu E, Hemmerlé J, Clevers H, Koo BK, Dollé P, Bloch-Zupan A, Niederreither K2020-09-09Scientific reports
Characteristic dental pattern with hypodontia and short roots in Fraser syndrome.Kunz F, Kayserili H, Midro A, de Silva D, Basnayake S, Güven Y, Borys J, Schanze D, Stellzig-Eisenhauer A, Bloch-Zupan A, Zenker M2020-07-01Fraser syndrome, dental roots, hypodontia, orodental health, taurodontismAmerican journal of medical genetics. Part A
Heimler Syndrome.Mechaussier S, Perrault I, Dollfus H, Bloch-Zupan A, Loundon N, Jonard L, Marlin S2020-01-01Amelogenesis imperfecta, Hearing loss, Heimler syndrome, PEX1–PEX6, Retinal dystrophyAdvances in experimental medicine and biology
Apert syndrome: Cranial procedures and brain malformations in a series of patients.Munarriz PM, Pascual B, Castaño-Leon AM, García-Recuero I, Redondo M, de Aragón AM, Romance A2020-01-01Apert syndrome, Craniosynostosis, Fronto-orbital advancement, Hydrocephalus, Monobloc advancementSurgical neurology international
Unusual context of CENPJ variants and primary microcephaly: compound heterozygosity and nonconsanguinity in an Argentinian patient.Cueto-González AM, Fernández-Cancio M, Fernández-Alvarez P, García-Arumí E, Tizzano EF2020-01-01Genetics research, Neurological disordersHuman genome variation
Elements of morphology: Standard terminology for the teeth and classifying genetic dental La Dure-Molla M, Fournier BP, Manzanares MC, Acevedo AC, Hennekam RC, Friedlander L, Boy-Lefèvre ML, Kerner S, Toupenay S, Garrec P, Vi-Fane B, Felizardo R, Berteretche MV, Jordan L, Ferré F, Clauss F, Jung S, de Chalendar M, Troester S, Kawczynski M, Chaloyard J, Manière MC, Berdal A, Bloch-Zupan A2019-10-01Anatomy and Histology, Classification, Craniofacial abnormalities, Rare diseases, Terminology, Tooth abnormalitiesAmerican journal of medical genetics. Part A
Hypomorphic mutations of TRIP11 cause odontochondrodysplasia.Wehrle A, Witkos TM, Unger S, Schneider J, Follit JA, Hermann J, Welting T, Fano V, Hietala M, Vatanavicharn N, Schoner K, Spranger J, Schmidts M, Zabel B, Pazour GJ, Bloch-Zupan A, Nishimura G, Superti-Furga A, Lowe M, Lausch E2019-02-07Bone Biology, Bone development, Genetics, Molecular pathology, Protein trafficJCI insight
A New SLC10A7 Homozygous Missense Mutation Responsible for a Milder Phenotype of Skeletal Dysplasia With Amelogenesis Imperfecta.Laugel-Haushalter V, Bär S, Schaefer E, Stoetzel C, Geoffroy V, Alembik Y, Kharouf N, Huckert M, Hamm P, Hemmerlé J, Manière MC, Friant S, Dollfus H, Bloch-Zupan A2019-01-01NGS (next generation sequencing), amelogenesis imperfecta, human, rare diseases, skeletal dysplasiaFrontiers in genetics
Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.Laugel-Haushalter V, Morkmued S, Stoetzel C, Geoffroy V, Muller J, Boland A, Deleuze JF, Chennen K, Pitiphat W, Dollfus H, Niederreither K, Bloch-Zupan A, Pungchanchaikul P2018-01-01NGS, calcium ion channel, dental anomalies, human, mutations, patterning, rare diseaseFrontiers in physiology
TitleAuthorsDateKeywordsIssue name
Last update: May 11th, 2024 on 01:30