Schwartz-Jampel SyndromeSymptoms, Doctors, Treatments, Advances & More
Learn About Schwartz-Jampel Syndrome
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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 Schwartz-Jampel Syndrome. He is also highly rated in 69 other conditions, according to our data. His clinical expertise encompasses Microcephalic Osteodysplastic Primordial Dwarfism Type 2 (MOPD2), Microcephalic Osteodysplastic Primordial Dwarfism Type 1 (MOPD1), Achondroplasia, Osteotomy, and Adenoidectomy. Dr. Bober is board certified in American Board Of Medical Genetics And Genomics.
Katta Girisha practices practicing medicine in Manipala, India. Girisha is rated as an Elite expert by MediFind in the treatment of Schwartz-Jampel Syndrome. They are also highly rated in 77 other conditions, according to our data. Their clinical expertise encompasses Pyle Disease, Brachydactyly Mononen Type, Arthrogryposis Multiplex Congenita, and Congenital Contractures.
Pelin Kiper-Simsek practices practicing medicine in Ankara, Turkey. Ms. Kiper-Simsek is rated as an Elite expert by MediFind in the treatment of Schwartz-Jampel Syndrome. She is also highly rated in 59 other conditions, according to our data. Her clinical expertise encompasses Chondrodystrophy, Schwartz-Jampel Syndrome, X-Linked Spondyloepiphyseal Dysplasia Tarda, and 3M Syndrome.
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.
Summary: Osteogenesis Imperfecta-related hearing loss usually occurs in individuals with mild (type I) OI and is much earlier in onset than age-related hearing loss, with the majority of individuals experiencing some minor hearing loss in their 20s. Bisphosphonates have been successfully used to treat otosclerosis, a common cause of hearing loss similar to OI-related hearing loss. As many individuals with ...