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.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version March 2024
Newly diagnosed with
Multiple epiphyseal dysplasia, Lowry 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.