Opsismodysplasia
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Learn About Opsismodysplasia

What is the definition of Opsismodysplasia?
Opsismodysplasia is a rare skeletal dysplasia characterized by congenital short stature and characteristic craniofacial abnormalities. Clinical signs observed at birth include short limbs, small hands and feet, relative macrocephaly with a large anterior fontanel (the space between the front bones of the skull), and characteristic craniofacial abnormalities including a prominent brow, depressed nasal bridge, a small anteverted nose, and a relatively long philtrum. Children with Opsismodysplasia are at an increased risk for respiratory infections and respiratory failure. This condition is caused by genetic changes in the INPPL1 the gene. It is inherited in an autosomal recessive manner.
What are the alternative names for Opsismodysplasia?
  • Opsismodysplasia
Who are the top Opsismodysplasia Local Doctors?
Elite in Opsismodysplasia
Elite in Opsismodysplasia
Paris, FR 

Valerie Daire-Cormier practices in Paris, France. Ms. Daire-Cormier is rated as an Elite expert by MediFind in the treatment of Opsismodysplasia. Her top areas of expertise are Myhre Syndrome, Achondroplasia, Polydactyly, Brachydactyly Mononen Type, and Adenoidectomy.

Sarah C. Contrucci
Experienced in Opsismodysplasia
Experienced in Opsismodysplasia

St. Christopher's Pediatric Associates Radiology - E. Erie Avenue

160 E Erie Ave, 
Philadelphia, PA 
Languages Spoken:
English

. Dr. Contrucci is rated as an Experienced provider by MediFind in the treatment of Opsismodysplasia. Her top areas of expertise are Tracheobronchopathia Osteoplastica, Scoliosis, Short Stature (Growth Disorders), and Familial Short Stature (FSS).

 
 
 
 
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Mark A. Reed
Experienced in Opsismodysplasia
Podiatric Surgery | Orthopedics
Experienced in Opsismodysplasia
Podiatric Surgery | Orthopedics

Proliance Surgeons

5350 Tallman Ave NW, Ste 500, 
Seattle, WA 
Experience:
11+ years
Languages Spoken:
English
Accepting New Patients
Offers Telehealth

Dr. Mark Reed is a board-certified orthopedic surgeon providing specialty care of all foot and ankle disorders. He treats both adolescents and adults with a special focus on sports-related injuries, including ankle instability, cartilage lesions, and Achilles tendon injuries. He also performs joint replacements and reconstructive surgery for degenerative conditions such as arthritis and tendon dysfunction. In addition, he provides state-of-the-art treatment in the areas of fracture care and sports medicine.Dr. Reed worked for seven years as a mechanical engineer for a contractor to the Department of Defense before changing careers and enrolling in medical school. As an engineer he designed missile guidance systems and was part of the team that developed the jet engine for the F-22 Advanced Tactical Fighter.He earned his medical degree at the University of Alabama School of Medicine. His background in engineering fostered an interest in orthopedics, driving him to an orthopedic surgical residency at the University of Massachusetts. As a chief resident, he was selected as the recipient of the esteemed John J. Monahan award, given to the physician who best embodies patient-centered care.After his general orthopedics training, Dr. Reed was accepted at the Union Memorial Hospital Foot and Ankle Fellowship in Baltimore, Maryland, considered to be one of the most prestigious foot and ankle fellowship programs in the country. He trained under three of the leaders in the foot and ankle community, including the recent president of the American Orthopaedic Foot and Ankle Society, and participated in cutting-edge biomechanical and clinical research during his time in Baltimore.He has undergone advanced training in ankle joint replacement, including the Scandinavian Total Ankle Replacement (STAR) prosthesis, as well as in reconstructive procedures, including bunion, hammertoe, and flatfoot deformity correction.Dr. Reed is excited to join the Seattle medical community and to experience all the Pacific Northwest has to offer. Outside of work, he enjoys spending time with his wife and his three sons. He also enjoys golf, tennis, working out, and spending time outdoors. Dr. Reed is rated as an Experienced provider by MediFind in the treatment of Opsismodysplasia. His top areas of expertise are Synovial Osteochondromatosis, Tendinitis, Freiberg's Disease, and Caffey Disease.

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Published Date: May 02, 2022
Published By: Genetic and Rare Diseases Informnation Center