Health Dictionary
Reliable, easy-to-read patient information on common medical conditions — written in plain language, free of jargon, and grounded in current evidence. Browse the most frequent diagnoses, understand what they mean for everyday life, and learn which steps and questions help you have a focused conversation with your doctor.
Recessive multiple epiphyseal dysplasia
Introduction
Recessive multiple epiphyseal dysplasia is a disorder of cartilage and bone development. This condition has relatively mild signs and symptoms, including joint pain, scoliosis, and malformations of the hands, feet, and knees. [1]
Some affected individuals are born with an inward- and downward-turning foot (a clubfoot). An abnormality of the kneecap called a double-layered patella is also relatively common. Although some people with recessive multiple epiphyseal dysplasia have short stature as adults, most are of normal height.
Genetic prevalence
Genetic prevalence
This condition is inherited in an autosomal recessive pattern, the incidence is unknown as many cases are not diagnosed due to mild symptoms.
Mutations in the SLC26A2 gene cause recessive multiple epiphyseal dysplasia. Recessive multiple epiphyseal dysplasia is the mildest condition in a spectrum of skeletal disorders caused by mutations in the SLC26A2 gene. This gene provides instructions for making a protein that is essential for the normal development of cartilage and for its conversion to bone. Mutations in the SLC26A2 gene alter the structure of developing cartilage, preventing bones from forming properly and resulting in the skeletal problems characteristic of recessive multiple epiphyseal dysplasia.
External links
External links
- Online Mendelian Inheritance in Man (OMIM) 226900
- Template:RareDiseases
- “Multiple Epiphyseal Dysplasia, Recessive”. GeneReviews — NCBI Bookshelf.