Get in touch with RARE Concierge.

Contact RARE Concierge


A primary bone dysplasia with micromelia characterized by rhizomelia exaggerated lumbar lordosis brachydactyly and macrocephaly with frontal bossing and midface hypoplasia.

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 December 2023

Newly diagnosed with

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.