Mesomelic dysplasia, Nievergelt type

Get in touch with RARE Concierge.

Contact RARE Concierge

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 http://www.orphadata.org. Data version July 2024

Newly diagnosed with
Mesomelic dysplasia, Nievergelt type?

Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.

Get Concierge Help

Advocacy Organizations

Don't see your organization here. Let us know here.

Clinical Trials

For a list of clinical trials in this disease area, please click here.