5 articles
Enamel-renal syndrome
Enamel-renal syndrome (ERS, OMIM 204690), also called amelogenesis imperfecta-nephrocalcinosis or MacGibbon syndrome, is an autosomal recessive FAM20A disorder combining hypoplastic enamel, failed tooth eruption, gingival fibromatosis, and nephrocalcinosis.
Gingival fibromatosis-hypertrichosis syndrome
Gingival fibromatosis-hypertrichosis syndrome (CGHT, OMIM 135400) is a rare autosomal dominant disorder causing generalized gum overgrowth from birth or childhood with excessive hair growth on the face, limbs, and back; candidate locus 17q24.2-q24.3, ABCA5.
Haim-Munk syndrome
Haim-Munk syndrome (HMS), an autosomal recessive CTSC (cathepsin C) disorder on 11q14, allelic to Papillon-Lefèvre syndrome; features palmoplantar hyperkeratosis, early periodontitis, onychogryphosis, arachnodactyly, acro-osteolysis, pes planus; under 100 cases, mostly Cochin Jewish descendants.
Oculodental syndrome, Rutherfurd type
Oculodental syndrome, Rutherfurd type (Rutherfurd syndrome, ORPHA:2709, OMIM 180900) is a rare autosomal dominant disorder with gingival fibromatosis, failure of tooth eruption, and bilateral corneal dystrophy; causative gene unknown.
Otodental syndrome
Otodental syndrome, also called otodental dysplasia or globodontia, is a very rare autosomal dominant disorder causing enlarged bulbous canine and molar teeth plus hearing loss.