Regressive spondylometaphyseal dysplasia

Get in touch with RARE Concierge.

Contact RARE Concierge

Regressive spondylometaphyseal dysplasia

A rare primary bone dysplasia characterized by mild short stature rhizomelic shortening of the arms and legs bowing of long bones with widened and irregular metaphyses thoracolumbar kyphosis and metacarpal shortening. A marked improvement of the radiologic skeletal features is typical. Pelger-Huet anomaly (i.e. dumbbell shape bilobed nuclei of neutrophils) is a characteristic hematological feature of this disease.

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 September 2023.

Newly diagnosed with
Regressive spondylometaphyseal dysplasia?

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

Clinical Trials

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