" /> Nail-Patella Syndrome - CISMeF





Preferred Label : Nail-Patella Syndrome;

NCIt synonyms : Hereditary Osteo-Onychodysplasia; Nail Patella Syndrome;

NCIt definition : A rare autosomal dominant syndrome caused by mutations in the LMX1B gene. It is characterized by fingernail deformities, absence or hypoplasia of the patellae, iliac horns, deformities of the radial heads, nephropathy, and glaucoma.;

Alternative definition : NICHD: A rare autosomal dominant syndrome caused by mutations in the LMX1B gene, which is characterized by dysplastic nails, absence or hypoplasia of the patellae, iliac horns, deformities of the radial heads, and nephropathy.;

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31/07/2025


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