Fuhrmann syndrome is an autosomal recessive skeletal disorder with major manifestations on terminal part of limbs. Cardinal features are hypoplasia/aplasia of the fibula, oligodactyly of ulnar and fibular side or poly- and syndactyly and aplasia of some terminal phalanges of toes. Urogenital anomalies were also seen in some individuals with Fuhrmann syndrome. Other organs as well as growth and intelligence are not affected. Author describes one girl with classical combination of features in Fuhrmann syndrome and her development from the birth at age of 17 years. The girl is only affected child in her family, but product of consanguineous marriage with coefficient of inbreeding 1/16.

        Key words: Fuhrmann syndrome, fibula aplasia/hypoplasia, oligodactyly, urogenital anomalies, autosomal recessive inheritance