Developmental Diseases and Malformation
Craniofacial malformations
Research Models and Biological Samples
Clinical Resources
Therapeutic and Diagnostic Development
CHARGE syndrome
Patient Cohorts
> 100 pediatric and adult patients
Primary velopharyngeal insufficiency
Patient Cohorts
Patient cohort
Congenital sucking and swallowing and feeding disorders due to neurodevelopment malformations
Patient Cohorts
Patient cohort
Feeding problems in normal population
Secondary velopharyngial insufficiency
Pierre Robin syndrome
Patient Cohorts
>400 patient cohort (pediatric and adult)
Feeding behaviour disorders post-traumatic or due to development malformations
Congenital sucking and swallowing and feeding disorders due to neurodevelopment disorders
Patient Cohorts
Patient cohort
22q11 microdeletion syndrome
Patient Cohorts
> 500 pediatric and adult patients
Cysts and fistulas
Research Models and Biological Samples
Clinical Resources
Therapeutic and Diagnostic Development
Thyroglossal duct cysts
Patient Cohorts
Patient cohort
Nasal tip and dorsum cysts and fistulas
Patient Cohorts
Patient cohort
Cysts and fistulas of the first branchial cleft
Patient Cohorts
Patient cohort
Cysts and fistulas of the fourth branchial pouch
Patient Cohorts
Patient cohort
Cysts and fistulas of the second branchial cleft
Patient Cohorts
Patient cohort
Dermoid cysts of all head and neck locations
Patient Cohorts
Patient cohort
Cleft lip/palate disorders
Patient Cohorts
Patient cohort
Atipical cysts and fistulas
Branchial anomalies and fibrochondromas
Patient Cohorts
Patient cohort
Ear malformations
Research Models and Biological Samples
Clinical Resources
Therapeutic and Diagnostic Development
Ear aplasia
Ossicles malformations – minor aplasia
Patient Cohorts
Patient cohort
Outer ear malformations
Patient Cohorts
Patient cohort
Major aplasia
Patient Cohorts
Patient cohort
Congenital stenosis of external auditory canals – including 18q deletion
Patient Cohorts
Patient cohort
Foetopathology
Research Models and Biological Samples
Clinical Resources
Therapeutic and Diagnostic Development
Spina bifida (myelomeningocele)
Patient Cohorts
Patient cohort
Congenital cytomegalovirus infection (CMV)
Congenital hydrocephalus
Low urinary tract obstruction
Aortic valve stenosis
Diaphragmatic hernia
Monochorionic pregnacy or twin-to-twin transfusion syndrome
Protocols
Fetoscopic laser ablation of placental anastomoses
Larynx and trachea
Research Models and Biological Samples
Clinical Resources
Therapeutic and Diagnostic Development
Tracheal hypoplasia
Patient Cohorts
Patient cohort
Tracheamalacia
Patient Cohorts
Patient cohort
Tracheoesophageal fistula
Patient Cohorts
Patient cohort
Recurrent resporatoryl papillomatosis
Patient Cohorts
Patient cohort
Laryngeal-tracheal papillomatosis
Patient Cohorts
Constitution of a national cohort
Laryngo-tracheal clefts
Patient Cohorts
Patient cohort
Laryngomalacia
Patient Cohorts
Patient cohort
Larynx mobility anomalies
Patient Cohorts
Patient cohort
Infantile hemangioma
Patient Cohorts
Patient cohort
Hypoplasia and laryngeal artresia
Patient Cohorts
Patient cohort
Team
Neurocristopathies
Research Models and Biological Samples
Clinical Resources
Therapeutic and Diagnostic Development
Waardenburg syndrome
Patient Cohorts
35 patient cohort
Hirschprung disease
Patient Cohorts
> 100 patient cohort
Congenital central hypoventilation syndrome (Ondine syndrome)
Team
Nose sinuses and skull base
Research Models and Biological Samples
Clinical Resources
Therapeutic and Diagnostic Development
Nasolacrimal duct cysts
Patient Cohorts
Patient cohort
Congenital meningocele and meningocephalocele
Patient Cohorts
Patient cohort
Congenital nasal pyriform aperture stenosis
Patient Cohorts
Patient cohort
Choanal atresia
Patient Cohorts
Patient cohort
Cardiac ciliopathies
Research Models and Biological Samples
Clinical Resources
Therapeutic and Diagnostic Development
Heterotaxia
In vivo models
IFT20 cKO mice
In vivo models
IFT20 KO mice
In vivo models
Nodal inactivation mice
Situs inversus
Congenital Cardiac Malformations
Research Models and Biological Samples
Clinical Resources
Therapeutic and Diagnostic Development
Atrio ventricular canal defect (AVCD)
In vivo models
Nodal inactivation (conditional KO mouse model)
Patient Cohorts
Patient cohort
Patient Cohorts
Patient cohort
Double outlet right ventricle (DORV)
In vivo models
Nodal inactivation (conditional KO mouse model)
Patient Cohorts
Patient cohort
Patient Cohorts
Patient cohort
Transposition of the great arteries (TGA)
In vivo models
Nodal inactivation (conditional KO mouse model)
Patient Cohorts
Patient cohort
Patient Cohorts
Patient cohort
Retinal dystrophies including ciliopathies
Research Models and Biological Samples
Clinical Resources
Therapeutic and Diagnostic Development
Leber congenital amaurosis (LCA)
In vivo models
Cep290 del/del mouse model
In vivo models
Cep290 Ki mouse models
Samples
DNA and fibroblasts from LCA10 patients
In vitro models
Fibroblasts from patients
Protocols
Injection of naked 2′-O-Methyl-phosphorothioate (2’OMePS) antisense-oligonucleotides (AON) for LCA10 patients
Patient Cohorts
>700 patient cohort
Patents
Methods for the treatment of retinal dystrophies by exon6 skipping strategy
Patents
Methods for performing antisense oligonucleotide-mediated exon skipping in the retina of a subject in need thereof
Patents
Compositions and methods for the treatment of leber congenital amaurosis
Rod-cone dystrophies including X-linked retinisis pigmentosa (XLRP)
Samples
DNA samples from patients with XLRP
Patient Cohorts
300 patientscohort
Skeletal Ciliopathies
Research Models and Biological Samples
Clinical Resources
Therapeutic and Diagnostic Development
Short-rib polydactyly
Patient Cohorts
Patient cohort
Jeune asphyxiating thoracic dystrophy
Patient Cohorts
Patient cohort
Ellis Van Creveld syndrome
Patient Cohorts
Patient cohort
Anorectal - pelvic - medullar malformations
Research Models and Biological Samples
Clinical Resources
Therapeutic and Diagnostic Development
Anorectal malformations
Team
Neurodevelopmental Disorders
Research Models and Biological Samples
Clinical Resources
Therapeutic and Diagnostic Development
Congenital sensorineural hearing loss
clinical trial
NCT04563884 – Validity of the French Version of Deafness Questionnaires for Children and Adolescents
clinical trial
NCT05402813 – Natural History in Children up to 10 Years With Moderate to Profound Hearing Loss Due to Mutations in GJB2 / OTOF Genes
clinical trial
NCT05423548 – Analysis of Risk Factors of Neurodevelopmental Disorder in Deaf Infants Under Ten Months of Age.
Cortical development
Overgrowth or tall stature syndrome
Research Models and Biological Samples
Clinical Resources
Therapeutic and Diagnostic Development
PIK3CA-related overgrowth spectrum (PROS)
Pulmonary hypertension
Research Models and Biological Samples
Clinical Resources
Therapeutic and Diagnostic Development
Pulmonary arterial hypertension
Renal Ciliopathies
Research Models and Biological Samples
Clinical Resources
Therapeutic and Diagnostic Development
Nephronophthisis
Patient Cohorts
> 1500 patients with NPH
Vaginal aplasia
Research Models and Biological Samples
Clinical Resources
Therapeutic and Diagnostic Development
Mayer-Rokitansky-Kuster-Hauser syndrome (MRKH)
Patient Cohorts
Patient cohort
clinical trial
NCT05415540 – Evolution of the Quality of Life and Experience of Young Women With Utero-vaginal Aplasia (MRKHPSY)