Multiple epiphyseal dysplasia, Lowry type

Get in touch with RARE Concierge.

Contact RARE Concierge

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 Data version April 2024

Newly diagnosed with
Multiple epiphyseal dysplasia, Lowry type?

Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.

Get Concierge Help

Advocacy Organizations

Clinical Trials

For a list of clinical trials in this disease area, please click here.