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.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.
Newly diagnosed with
Bone dysplasia, lethal Holmgren type?
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The Chandler Project
The Chandler Project (TCP) provides those affected with achondroplasia, and other forms of skeletal dysplasia (dwarfism), with the latest in pharmaceutical research and surgical advancements.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
For a list of clinical trials in this disease area, please click here.