Mesomelic dysplasia, Nievergelt type

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Synonyms: Mesomelic dwarfism, Nievergelt type | Nievergelt syndrome

A rare primary bone dysplasia characterized by severe mesomelic shortness particularly of the lower limbs with distinctive triangular or rhomboid-shaped tibiae and fibulae accompanied by bony protuberances and skin dimples. Additional manifestations include radioulnar synostosis dislocation of the radial head abnormalities of the hands (such as oligosyndactyly or fusiform-shaped fingers) and feet (pes equinovarus synostoses of tarsals/metatarsals and phalanges) and dysmorphic facial features.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on Data version July 2024

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