Rhizomelic dysplasia, Patterson-Lowry type
Rhizomelic dysplasia Patterson-Lowry type is a rare primary bone dysplasia characterized by short stature severe rhizomelic shortening of the upper limbs associated with specific malformations of humeri (including marked widening and flattening of proximal metaphyses medial flattening of the proximal epiphyses and lateral bowing with medial cortical thickening of the proximal diaphyses) marked coxa vara with dysplastic femoral heads and brachimetacarpalia.
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
Rhizomelic dysplasia, Patterson-Lowry type?
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Advocacy Organizations
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.
Clinical Trials
For a list of clinical trials in this disease area, please click here.