Brachydactyly Mononen TypeSymptoms, Doctors, Treatments, Advances & More
Learn About Brachydactyly Mononen Type
Condition 101 content is not available at this time, but we are continually updating the site. Please check back.
However, there may be experts who have treated this or similar conditions in our Find a Doctor section and research may be available in our Latest Advances section.
Nemours Children's Hospital, Delaware
Dr. Michael B. Bober is a pediatric geneticist and an authority on skeletal dysplasias, brittle bone disease, primordial dwarfism and other genetic disorders of the skeleton. He is a frequent guest lecturer, accomplished author and consultant for numerous television networks, here and abroad. Dr. Bober is rated as an Elite provider by MediFind in the treatment of Brachydactyly Mononen Type. His top areas of expertise are Microcephalic Osteodysplastic Primordial Dwarfism Type 2 (MOPD2), Microcephalic Osteodysplastic Primordial Dwarfism Type 1 (MOPD1), Achondroplasia, Osteotomy, and Adenoidectomy.
Nemours Children's Hospital Delaware
William Mackenzie is an Orthopedics provider in Wilmington, Delaware. Dr. Mackenzie is rated as an Elite provider by MediFind in the treatment of Brachydactyly Mononen Type. His top areas of expertise are Mucopolysaccharidosis Type 4 (MPS IV, Morquio Syndrome), Brachydactyly Mononen Type, Achondroplasia, Osteotomy, and Spinal Fusion.
Valerie Daire-Cormier practices in Paris, France. Ms. Daire-Cormier is rated as an Elite expert by MediFind in the treatment of Brachydactyly Mononen Type. Her top areas of expertise are Myhre Syndrome, Polydactyly, Achondroplasia, Brachydactyly Mononen Type, and Adenoidectomy.
Summary: This is an international prospective and retrospective registry of patients with Lysosomal Storage Diseases (LSDs) to understand the natural history of the disease and the outcomes of fetal therapies, with the overall goal of improving the prenatal management of patients with LSDs.
Background: \- The rare disease melorheostosis causes bones to thicken. This may lead to pain, and can affect bones, joints, and muscles. Researchers want to learn more about the disease and how it progresses.