Mesomelic dysplasia, Nievergelt type
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 March 2024
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Mesomelic dysplasia, Nievergelt type?
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Advocacy Organizations
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
The Chandler Project
The Chandler Project brings awareness and shines a light on transformative research surrounding achondroplasia and other skeletal dysplasias by offering support to a global community and network of patients, parents, and caregivers seeking information on scientific discoveries, pharmaceutical advancements and surgical treatment options.
Clinical Trials
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