Kyphomelic dysplasia
A rare primary bone dysplasia characterized radiologically by short stubby long bones severely angulated femurs and lesser bowing of other long bones (mild moderate or no bowing) short and wide iliac wings with horizontal acetabular roofs platyspondyly and a narrow thorax clinically manifesting with severe disproportionate short stature. Regression of femora angulation is observed with advancing age.
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 April 2024
Newly diagnosed with
Kyphomelic dysplasia?
Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.
Clinical Trials
For a list of clinical trials in this disease area, please click here.