Bone dysplasia, lethal Holmgren type

Get in touch with RARE Concierge.

Contact RARE Concierge

Bone dysplasia, lethal Holmgren type

Synonyms: Autosomal recessive lethal chondrodysplasia, round femoral inferior epiphysis type

A rare lethal bone dysplasia characterized at birth by low birth weight a rhizomelic dwarfism bent femora and short chest producing asphyxia. The initial cases could have been diagnosed as Desbuquois syndrome or a recessive Larsen syndrome. There has been no further description in the literature since 1988.

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: // Data version September 2023.

Newly diagnosed with
Bone dysplasia, lethal Holmgren 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

Clinical Trials

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