Leri-Weill DyschondrosteosisSymptoms, Doctors, Treatments, Advances & More
Learn About Leri-Weill Dyschondrosteosis
Léri-Weill dyschondrosteosis is a disorder of bone growth. Affected individuals typically have shortening of the long bones in the arms and legs (mesomelia). As a result of the shortened leg bones, people with Leri-Weill dyschondrosteosis typically have short stature. Most people with the condition also have an abnormality of the wrist and forearm bones called Madelung deformity, which may cause pain and limit wrist movement. This abnormality usually appears in childhood or early adolescence. Other features of Léri-Weill dyschondrosteosis can include increased muscle mass (muscle hypertrophy); bowing of a bone in the lower leg called the tibia; a greater-than-normal angling of the elbow away from the body (increased carrying angle); and a high arched palate.
Most cases of Léri-Weill dyschondrosteosis result from changes involving the SHOX gene. The protein produced from this gene plays a role in bone development and is particularly important for the growth and maturation of bones in the arms and legs. The most common cause of Léri-Weill dyschondrosteosis is a deletion of the entire SHOX gene. Other genetic changes that can cause the disorder include mutations in the SHOX gene or deletions of nearby genetic material that normally helps regulate the gene's activity. These changes reduce the amount of SHOX protein that is produced. A shortage of this protein disrupts normal bone development and growth, which underlies the major features of Léri-Weill dyschondrosteosis.
The prevalence of Léri-Weill dyschondrosteosis is unknown. It is diagnosed more often in females than in males.
Léri-Weill dyschondrosteosis has a pseudoautosomal dominant pattern of inheritance. The SHOX gene is located on both the X and Y chromosomes (sex chromosomes) in an area known as the pseudoautosomal region. Although many genes are unique to either the X or Y chromosome, genes in the pseudoautosomal region are present on both sex chromosomes. As a result, both females (who have two X chromosomes) and males (who have one X and one Y chromosome) normally have two functional copies of the SHOX gene in each cell. The inheritance pattern of Léri-Weill dyschondrosteosis is described as dominant because one missing or altered copy of the SHOX gene in each cell is sufficient to cause the disorder. In females, the condition results when the gene is missing or altered on one of the two copies of the X chromosome; in males, it results when the gene is missing or altered on either the X chromosome or the Y chromosome.
Sara Sanz-Benito practices practicing medicine in La Paz, Spain. Ms. Sanz-Benito is rated as an Elite expert by MediFind in the treatment of Leri-Weill Dyschondrosteosis. She is also highly rated in 8 other conditions, according to our data. Her clinical expertise encompasses Leri-Weill Dyschondrosteosis, Langer Mesomelic Dysplasia, Schwartz-Jampel Syndrome, and X-Linked Spondyloepiphyseal Dysplasia Tarda.
Nemours Children's Hospital, Delaware
Dr. Jeffery Campbell has been a pediatric neurosurgeon at Nemours for 20 years. His most notable work is with kids that have skeletal dysplasia and he acts as the neurosurgical component of our larger skeletal dysplasia program at Nemours. Most of his research has been in dwarfism and osteogenesis imperfecta (OI). Prior to Nemours, he worked in a private practice in Charleston, SC. When I was in medical school, I knew that I wanted to do something “brain-related.” During my fourth year, I did a neurology rotation and thoroughly enjoyed the immediate feedback of surgery. I split my residency time between pediatric and adult hospitals, but quickly realized that I loved working with kids. I was able to see kids get better and found the impact I had on them gratifying. My goal as a doctor is to have a long-term impact on someone’s life and treating kids was my path to do just that. I am passionate about providing the best possible care for all children. I enjoy being on the cutting edge of treating rare problems on the skeletal dysplasia spectrum and I take pride in people traveling to Nemours from all over the country to seek such treatment. I love that I can do things that can’t be done anywhere else. I believe that health care should be a team sport. I always advocate for team approaches, especially with complicated cases. I actively create multidisciplinary teams for many of my patients to give them the very best care. Dr. Campbell is rated as an Advanced provider by MediFind in the treatment of Leri-Weill Dyschondrosteosis. He is also highly rated in 80 other conditions, according to our data. His clinical expertise encompasses Achondroplasia, Increased Head Circumference, Syringomyelia, Bone Graft, and Adenoidectomy. Dr. Campbell is board certified in American Board Of Neurological Surgery.
Nemours Children's Hospital, Delaware
Both of my parents were in the medical field and strongly influenced the direction of my career. I became a physical therapist, which I enjoyed immensely, but I thought I could make a different contribution to patient care by becoming a physician. In radiology, we are part of the medical team that helps diagnose or exclude an illness and we help to direct the course of our patient’s treatment. Working with children is an amazing experience. Kids are so resilient and bounce back from all types of difficult situations. They each have such a unique perspective and we try our best to tailor our interactive imaging procedures to the child. Sometimes this involves providing anatomy lessons to teen patients, other times it involves just “getting it over with.” We aim to make our imaging procedures as interesting and as comfortable as possible. My areas of interest include: Pediatric Body Imaging Fetal Imaging Child Abuse I try to provide the most accurate information based on our imaging studies to the patient’s medical team so that the child can be treated as quickly as possible. I am fortunate to work with an incredible group of medical practitioners at Nemours/Alfred I. duPont Hospital for Children who share my passion to provide the highest quality medical care to all children. Dr. Harty is rated as an Advanced provider by MediFind in the treatment of Leri-Weill Dyschondrosteosis. She is also highly rated in 52 other conditions, according to our data. Her clinical expertise encompasses X-Linked Spondyloepiphyseal Dysplasia Tarda, Weissenbacher-Zweymuller Syndrome, Kniest Dysplasia, and Spondyloepiphyseal Dysplasia. Dr. Harty is board certified in American Board Of Radiology.
Published Date: January 01, 2012
Published By: National Institutes of Health