• Treacher-Collins syndrome

ITHACA Experts: Pr Corinne COLLET

• Carpenter syndrome

ITHACA Experts: Pr Corinne COLLET

• Smith-Magenis syndrome

ITHACA Experts: Dr Laurence PERRIN

• Sotos syndrome

ITHACA Experts: Dr Alessandro MUSSA

• Fraser syndrome 

ITHACA Experts: Dr Maria Francesca BEDESCHI, Dr Max LIEBAU (ERKNet) – Dr A.M. [Albertien] VAN EERDE (ERKNet)

• Oculocerebrofacial syndrome, Kaufman type  

ITHACA Experts: Dr Katalin SZAKSZON

• THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome  

ITHACA Experts: Dr Andrea ACCOGLI, Dr Valeria CAPRA, Dr Gianluca PICCOLO

• Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome 

ITHACA Experts: Pr Laurence OLIVIER-FAIVRE 

• Malan overgrowth syndrome

ITHACA Experts: Pr Valérie CORMIER-DAIRE, Dr Valérie MALAN 

• Marshall-Smith syndrome

ITHACA Experts: Pr Valérie CORMIER-DAIRE, Dr Valérie MALAN

• Noonan syndrome with multiple lentigines

ITHACA Experts: Dr Maria Cristina DIGILIO

• Postaxial acrofacial dysostosis

ITHACA Experts: Pr Dagmar WIECZOREK

• Mandibulofacial dysostosis-microcephaly syndrome

ITHACA Experts: Pr Dagmar WIECZOREK

• Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome 

ITHACA Experts: Pr Dagmar WIECZOREK