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://www.orphadata.org. Data version April 2024
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Bone dysplasia, lethal Holmgren type?
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Advocacy Organizations
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
The Chandler Project
The Chandler Project brings awareness and shines a light on transformative research surrounding achondroplasia and other skeletal dysplasias by offering support to a global community and network of patients, parents, and caregivers seeking information on scientific discoveries, pharmaceutical advancements and surgical treatment options.
Clinical Trials
For a list of clinical trials in this disease area, please click here.