Multiple epiphyseal dysplasia, Lowry type
Synonyms: Multiple epiphyseal dysplasia with Robin phenotype
Multiple epiphyseal dysplasia Lowry type is a rare primary bone dysplasia characterized by small flat epiphyses (esp. the capital femoral epiphyses) rhizomelic shortening of limbs cleft of secondary palate micrognathia mild joint contractures and facial dysmorphism (incl. mildly upward-slanting palpebral fissures hypertelorism broad nasal tip). Additionally reported features include scoliosis genu valgum mild pectus excavatum platyspondyly dislocated radial heads brachydactyly hypoplastic fibulae and talipes equinovarus.
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
Multiple epiphyseal dysplasia, Lowry 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.
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