Orofaciodigital syndrome I

MONDO:0010702

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.

Also known as: OFD syndrome 1, OFD1, OFDI, OFDS 1, OFDSI, Papillon-Leage and Psaume syndrome, Papillon-Léage-Psaume syndrome, Papillon-league-Psaume syndrome (formerly)

26 clinical trials for this condition and its sub-types.

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