X-linked syndromic intellectual disability Malformation syndrome with skin/mucosae involvement Syndrome or malformation associated with head and neck malformations Genetic renal or urinary tract malformation Genetic branchial arch or oral-acral syndrome Orofaciodigital syndrome type 1 Papillon-Léage-Psaume syndrome OFDI OMIM:311200 OFDSI Oral-facial-digital syndrome type 1 OFD1 ICD10:Q87.0 orphanet UMLS:C1510460 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. UMLS:C2931426 Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy Rare genetic skin disease Syndromic genetic deafness