Abstract
NAIL-PATELLA SYNDROME, FONG’S SYNDROME, OR HEREDITARY ONYCHOOSTEODYSPLASIA (HOOD), TURNERKIESER SYNDROME, OMIM #161200 Nail-patella syndrome is an autosomal dominant disorder with a characteristic clinical tetrad including fingernail dysplasia, hypoplastic or absent patellae, dislocation of the radial head, and bony protuberances of the iliae, known as iliac horns. Mutations in a transcription factor (LMX1B), belonging to the LIM-homeodomain family, have been found. LMX1B is important for dorsal/ventral pattern formation during limb development. The nail-patella gene maps to chromosome 9q34.1 and is linked to the ABO blood group locus.
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