Orofaciodigital syndrome type 1

Oral-facial-digital syndrome type 1 (OFD1) is 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.

Read more

Aliases

• OFD syndrome 1
• OFD1
• OFDI
• OFDS 1
• OFDSI
• oral facial digital syndrome 1
• oral facial digital syndrome type 1
• oral-facial-digital syndrome 1
• Oral-facial-digital syndrome type 1
• oral-facial-digital syndrome type 1
• oral-facial-digital syndrome, type 1
• orofaciodigital syndrome 1
• orofaciodigital syndrome I
• orofaciodigital syndrome I
• orofaciodigital syndrome type 1
• orofaciodigital syndrome type I
• Papillon-Leage and Psaume syndrome
• Papillon-Leage-Psaume syndrome
• Papillon-league-Psaume syndrome (formerly)
• Papillon-Léage-Psaume syndrome