/orofaciodigital syndrome I

orofaciodigital syndrome I

Rare Disease

MONDO:0010702

Also Known As

OFD syndrome 1OFD1OFDIOFDS 1OFDSIPapillon-Leage and Psaume syndromePapillon-Leage-Psaume syndromePapillon-Léage-Psaume syndromePapillon-league-Psaume syndrome (formerly)oral facial digital syndrome 1oral facial digital syndrome type 1oral-facial-digital syndrome 1oral-facial-digital syndrome type 1oral-facial-digital syndrome, type 1orofaciodigital syndrome 1orofaciodigital syndrome Iorofaciodigital syndrome i, X-linked dominantorofaciodigital syndrome type 1orofaciodigital syndrome type I

Definition

A rare neurodevelopmental disorder in the ciliopathy group that is lethal in males and characterized by variable anomalies including external malformations (craniofacial and digital), and possible involvement of the central nervous system (CNS) and of viscera (kidneys, pancreas and ovaries) in females.