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Learn About Desbuquois Syndrome

What is the definition of Desbuquois Syndrome?
Desbuquois syndrome (DBQD) is a rare type of osteochondrodysplasia (a disorder of the development of bones and cartilage). Characteristics may vary in severity and can include short stature with short extremities, severe joint laxity with dislocation, osteopenia, kyphoscoliosis, distinctive facial characteristics and other abnormalities.Two forms have been distinguished on the basis of the presence (type 1) or the absence (type 2) of characteristic hand anomalies. A variant form of DBQD, Kim variant, has been described in 7 patients originating from Korea and Japan, and is characterized by short stature, joint and minor facial anomalies, together with significant hand anomalies with short bones in the hands, long fingers and advanced bone age. DBQD type 1 and Kim variant are caused by genetic changes in the gene CANT1. Some cases of DBQD type 2 are caused by genetic changes in the gene XYLT1 but in other cases the cause is unknown. It is inherited in an autosomal recessive manner. Type 1 can be associated with severe respiratory problems.
What are the alternative names for Desbuquois Syndrome?
  • Desbuquois syndrome
  • DBQD
  • Desbuquois dysplasia
  • Micromelic dwarfism, narrow chest, vertebral and metaphyseal abnormalities and advanced carpotarsal ossification
Who are the top Desbuquois Syndrome Local Doctors?
Advanced in Desbuquois Syndrome
Advanced in Desbuquois Syndrome

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 Desbuquois Syndrome. Her top areas of expertise are Syndactyly Type 2, Syndactyly, Syndactyly Type 1, and Proximal Symphalangism. Dr. Fishman is currently accepting new patients.

Advanced in Desbuquois Syndrome
Pediatric Orthopedics | Orthopedics
Advanced in Desbuquois Syndrome
Pediatric Orthopedics | Orthopedics
1 Childrens Pl, Ste 1b, 
Saint Louis, MO 
Languages Spoken:
English
Accepting New Patients

Mark Miller is a Pediatric Orthopedics specialist and an Orthopedics provider in Saint Louis, Missouri. Dr. Miller is rated as an Advanced provider by MediFind in the treatment of Desbuquois Syndrome. His top areas of expertise are Claw Foot, Clubfoot, Congenital Femoral Deficiency, Osteotomy, and Tissue Biopsy. Dr. Miller is currently accepting new patients.

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

Summit Orthopedics - Woodbury (Woodlake)

2090 Woodwinds Drive, 
Woodbury, 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 Desbuquois Syndrome. Her top areas of expertise are Synovial Osteochondromatosis, Achilles Tendon Rupture, Osgood-Schlatter Disease, Osteochondritis Dissecans, and Hip Replacement.

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