Otospondylomegaepiphyseal DysplasiaSymptoms, Doctors, Treatments, Advances & More
Learn About Otospondylomegaepiphyseal Dysplasia
Otospondylomegaepiphyseal dysplasia (OSMED) is a condition characterized by skeletal abnormalities, distinctive facial features, and severe hearing loss. The term "otospondylomegaepiphyseal" refers to the parts of the body that this condition affects: the ears (oto-), the bones of the spine (spondylo-), and the ends (epiphyses) of long bones in the arms and legs. The features of this condition significantly overlap those of two similar conditions, Weissenbacher-Zweymüller syndrome and Stickler syndrome type III. All of these conditions are caused by mutations in the same gene, and in some cases, it can be difficult to tell the conditions apart. Some researchers believe they represent a single disorder with a range of signs and symptoms.
OSMED is caused by mutations in the COL11A2 gene. This gene provides instructions for making one component of type XI collagen, which is a complex molecule that gives structure and strength to the connective tissues that support the body's joints and organs. Type XI collagen is found in cartilage, a tough but flexible tissue that makes up much of the skeleton during early development. Most cartilage is later converted to bone, except for the cartilage that continues to cover and protect the ends of bones and is present in the nose and external ears. Type XI collagen is also part of the inner ear and the nucleus pulposus, which is the center portion of the discs between vertebrae.
This condition is rare; its prevalence is unknown. Only a few families with OSMED worldwide have been described in the medical literature.
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
State University Of Iowa
Amy Calhoun is a Medical Genetics specialist and a Pediatrics provider practicing medicine in Iowa City, Iowa. Dr. Calhoun is rated as a Distinguished provider by MediFind in the treatment of Otospondylomegaepiphyseal Dysplasia. She is also highly rated in 7 other conditions, according to our data. Her clinical expertise encompasses Wolf-Hirschhorn Syndrome, Otospondylomegaepiphyseal Dysplasia, MELAS Syndrome, and Costello Syndrome. Dr. Calhoun is currently accepting new patients.
Adventist Health Physicians Network
Frank Huang is an Endocrinologist practicing medicine in Lodi, California. Dr. Huang is rated as a Distinguished provider by MediFind in the treatment of Otospondylomegaepiphyseal Dysplasia. He is also highly rated in 25 other conditions, according to our data. His clinical expertise encompasses Spondyloenchondrodysplasia, Weissenbacher-Zweymuller Syndrome, Dyggve-Melchior-Clausen Syndrome, and Spondyloepimetaphyseal Dysplasia Joint Laxity.
Twin Cities Spine Center
Dr. Joseph H. Perra is a board-certified orthopedic spine surgeon at Twin Cities Spine Center specializing in cervical, thoracic, and lumbar spine conditions. He treats scoliosis, spinal deformity, herniated discs, spinal stenosis, trauma, tumors, and spinal infections. Dr. Perra offers advanced minimally invasive spine surgery and modern techniques designed to reduce pain and shorten recovery time. He sees patients in Minneapolis. Call (612) 775-6200 or visit tcspine.com to schedule a consultation. Dr. Perra is rated as an Experienced provider by MediFind in the treatment of Otospondylomegaepiphyseal Dysplasia. He is also highly rated in 19 other conditions, according to our data. His clinical expertise encompasses Scoliosis, Kyphosis, Frontonasal Dysplasia Klippel Feil Syndrome, Spinal Fusion, and Microdiscectomy. Dr. Perra is board certified in American Board Of Orthopedic Surgeons. Dr. Perra is currently accepting new patients.
Published Date: May 01, 2016
Published By: National Institutes of Health