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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.

Tracy D. Rupke
Experienced in Opsismodysplasia
Orthopedics | Sports Medicine | Podiatric Surgery
Experienced in Opsismodysplasia
Orthopedics | Sports Medicine | Podiatric Surgery

Summit Orthopedics

10230 Baltimore St NE, Main Desk, 
Blaine, MN 
Languages Spoken:
English
Accepting New Patients
Offers Telehealth

Tracy Rupke, M.D., is an orthopedic surgeon at Summit Orthopedics specializing in foot and ankle care, serving Minneapolis/St. Paul metro area patients. She has a special interest in sports medicine, orthopedic trauma, and reconstructive surgery of the foot and ankle. She did a sports medicine fellowship at the University of Ottawa in Canada, and a foot and ankle surgery fellowship at the University of Washington, Seattle. “I am dedicated to providing the best care possible for my patients,” she says. “I love running and understand every patient’s desire to return to their own life and activities.” She provides medical coverage for the U.S. Waterski team and volunteered surgical skills to underserved communities through One World Surgery. Dr. Rupke is rated as an Experienced provider by MediFind in the treatment of Opsismodysplasia. Her top areas of expertise are Synovial Osteochondromatosis, Achilles Tendon Rupture, Osgood-Schlatter Disease, Osteochondritis Dissecans, and Hip Replacement.

 
 
 
 
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Advanced in Opsismodysplasia
Advanced in Opsismodysplasia

Loyola University Medical Center

2160 S 1st Ave, 
Maywood, IL 
Languages Spoken:
English
Accepting New Patients

Felicity Fishman is a Hand Surgeon in Maywood, Illinois. Dr. Fishman is rated as an Advanced provider by MediFind in the treatment of Opsismodysplasia. Her top areas of expertise are Syndactyly Type 2, Syndactyly, Syndactyly Type 1, and Proximal Symphalangism. Dr. Fishman is currently accepting new patients.

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