Spondylocostal DysostosisSymptoms, Doctors, Treatments, Advances & More
Learn About Spondylocostal Dysostosis
Spondylocostal dysostosis is a group of conditions characterized by abnormal development of bones in the spine and ribs. The bones of the spine (vertebrae) are misshapen and abnormally joined together (fused). Many people with this condition have abnormal side-to-side curvature of the spine (scoliosis) due to malformation of the vertebrae. In addition to spinal abnormalities, some of the rib bones may be fused together or missing. Affected individuals have short, rigid necks and short torsos because of the bone malformations. As a result, people with spondylocostal dysostosis have short bodies but normal-length arms and legs, called short-trunk dwarfism.
Mutations in several genes are known to cause spondylocostal dysostosis. The most common form of the condition, spondylocostal dysostosis type 1, is caused by mutations in the DLL3 gene. Mutations in other identified genes each account for a small number of cases of the condition.
Spondylocostal dysostosis is a rare condition, although its exact prevalence is unknown.
Spondylocostal dysostosis can have different inheritance patterns. Most types, including type 1, are 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. Other types of spondylocostal dysostosis are inherited in an autosomal dominant pattern. Autosomal dominant inheritance means that one copy of an altered gene in each cell is sufficient to cause the disorder. The signs and symptoms of spondylocostal dysostosis are typically more severe with autosomal recessive inheritance.
Simon Carlo is a primary care provider, practicing in General Practice in Hormigueros, Puerto Rico. Dr. Carlo is rated as an Elite provider by MediFind in the treatment of Spondylocostal Dysostosis. He is also highly rated in 3 other conditions, according to our data. His clinical expertise encompasses Spondylocostal Dysostosis, Hermansky-Pudlak Syndrome, Albinism, and Spinal Muscular Atrophy with Arthrogryposis.
Mika Gissler practices practicing medicine in Helsinki, Finland. Gissler is rated as a Distinguished expert by MediFind in the treatment of Spondylocostal Dysostosis. They are also highly rated in 49 other conditions, according to our data. Their clinical expertise encompasses Gestational Diabetes, Gastroschisis, High Blood Pressure in Infants, Hormone Replacement Therapy (HRT), and Intrauterine Device Insertion.
Cohen Children's Northwell Health Physician Partners Pediatric Orthopaedics
Dr. Sarwahi, heads the Center for Minimally Invasive Scoliosis Surgery and the Center for Advanced Pediatric Orthopedics at Cohens Children s Medical Center, which brings together a dedicated team of fellowship-trained Scoliosis surgeons, neurologists, anesthesiologists, hospitalists, nursing staff and others in state of the art treatment of scoliosis. Few centers in the world offer this technique, technology and team approach.Dr Sarwahi was the Edwin Warner Ryerson Fellow in Pediatric Orthopaedics at Northwestern University Medical School in Chicago. and completed another fellowship in spine deformity at the Hospital for Special Surgery of Cornell University, New York. This extensive training uniquely qualifies him to treat children and adolescents with the expertise of a spine surgeon and the approach of a pediatric orthopaedic surgeon. He is an active member of the Scoliosis Research Society, North American Spine Society and the Society for Minimally Invasive Spine Surgery.Dr Sarwahi has pioneered the minimally invasive scoliosis surgery for idiopathic scoliosis and published the first journal article in the world in the August 2011 issue of Scoliosis and a two-year follow up in the May 2014 issue of the Journal of Spinal Disorders & Techniques. Dr Sarwahi is leading the field again by providing this approach to children with neurological disorders. He is actively involved in basic and clinical science research, and has won numerous national and international awards and nominations. Russell Hibbs science Award (2015, 2013 nomination Scoliosis Research Society),Thomas Whitecloud Award ( 2014, 2014 nomination, 2011 won, Scoliosis Research Society), Young Investigator Research Award- clinical and basic science (2013, 2013 Pediatric Orthopaedic Society of North America), Value Award (North American Spine Society 2013 nomination), Richard D Selznik, MD Award (2013, 2011, 2010, 2009, 2006 Albert Einstein College of Medicine), Louis Goldstein Award (2010 nomination, Scoliosis Research Society), Teacher Of the Year Award 2009, Albert Einstein College Of Medicine, Bronx, New York, Joseph L Posch, MD Award 2004, Best Paper-American Association of Hand Surgeons, 2004 are some of the many. He has co-edited the textbook Spondylolisthesis: Diagnosis, Non-Surgical Management, and Surgical Techniques.Dr Sarwahi is ranked by Becker s Spine review amongst the 12 spine surgeons performing minimally invasive scoliosis surgery in the country. He has been invited by multiple organizations and has presented his technique at a half day course organized by the Scoliosis Research Society at its 47th Annual meeting. His surgical innovations and surgical results have been profiled by NY Daily News, NY1, the Journal News, Sanjay Gupta at www.everydayhealth.com/sanjay-gupta/star-tennis-play etc. He is actively involved in the training of fellows, residents and medical students and annually donates his time to the education of spine surgeons in India. Dr. Sarwahi is rated as an Advanced provider by MediFind in the treatment of Spondylocostal Dysostosis. He is also highly rated in 8 other conditions, according to our data. His clinical expertise encompasses Scoliosis, Adolescent Idiopathic Scoliosis, Kyphosis, Spinal Fusion, and Osteotomy. Dr. Sarwahi is board certified in American Board Of Orthopaedic Surgery.
Published Date: June 01, 2016
Published By: National Institutes of Health