Save information for later
Sign Up

Learn About Small Patella Syndrome

What is the definition of Small Patella Syndrome?
Small patella syndrome (SPS) is a rare syndrome that mainly affects the way certain bones are formed (developed). A person with SPS usually has very small kneecaps (hypoplastic patella) or may have no kneecaps at all (aplastic). The hip (pelvic) bones may be weak, and the bones of the feet may not have formed correctly. Occasionally, bones in the face may also be affected. Small patella syndrome is caused by a change (pathogenic variant) in the TBX4 gene. The syndrome is inherited in an autosomal dominant manner. Diagnosis of the syndrome is suspected based on features that can be seen in a physical exam and on imaging tests such as X-rays. Diagnosis of SPS can be confirmed with genetic testing.
What are the alternative names for Small Patella Syndrome?
  • Small patella syndrome
  • Congenital coxa vara, patella aplasia and tarsal synostosis
  • Coxo-podo-patellar syndrome
  • Ischiopatellar dysplasia
  • Patella aplasia, coxa vara, tarsal synostosis
  • Scott-Taor syndrome
  • ischiocoxopodopatellar syndrome
Who are the top Small Patella Syndrome Local Doctors?
Elite in Small Patella Syndrome
Elite in Small Patella Syndrome
Lille, FR 

Clemence Vanlerberghe practices in Lille, France. Vanlerberghe is rated as an Elite expert by MediFind in the treatment of Small Patella Syndrome. Their top areas of expertise are Small Patella Syndrome, Wildervanck Syndrome, Holt-Oram Syndrome, and Thrombocytopenia-Absent Radius Syndrome.

Patrick J. Vaughan
Experienced in Small Patella Syndrome
Orthopedics | Sports Medicine
Experienced in Small Patella Syndrome
Orthopedics | Sports Medicine

Proliance Surgeons

2727 Hollycroft St Suite #410, 
Gig Harbor, WA 
Languages Spoken:
English
Accepting New Patients
Offers Telehealth

Patrick Vaughan, MD, is a board-certified orthopedic surgeon specializing in the care and education of the amateur, professional and weekend athlete. He utilizes both non-operative as well as surgical care in order to restore his patients' function and return them to the activities they love.Dr. Vaughan has been practicing orthopedic surgery in the South Sound for over 15 years. He is the medical director and team orthopedic surgeon for the Tacoma Rainiers (AAA franchise of the Seattle Mariners), and provides sports medicine coverage for Gig Harbor High School. He is the current team orthopedic surgeon for the University of Puget Sound and has worked with all of the school's varsity sports teams for over a dozen years. He served in the U.S. Navy from 2001-2005 at the Naval Hospital Pensacola as an orthopedic surgeon.He enjoys outdoor activities, such as hiking, skiing, and golf, spending time with his family, and playing sports with his two teenagers. Dr. Vaughan is rated as an Experienced provider by MediFind in the treatment of Small Patella Syndrome. His top areas of expertise are Knock Knees, Osteoarthritis, Bowlegs, Hip Replacement, and Knee Replacement.

 
 
 
 
Learn about our expert tiers
Learn More
Scott R. Pepin
Experienced in Small Patella Syndrome
Orthopedics | Pediatrics | Pediatric Sports Medicine
Experienced in Small Patella Syndrome
Orthopedics | Pediatrics | Pediatric Sports Medicine

Summit Orthopedics

3580 Arcade Street, Floor 1, 
Vadnais Heights, MN 
Experience:
16+ years
Languages Spoken:
English
Accepting New Patients
Offers Telehealth

Scott Pepin, M.D., is an orthopedic sports medicine surgeon at Summit Orthopedics specializing in shoulder and knee care, serving Minneapolis/St. Paul patients. He completed his fellowship training in sports medicine at OrthoIndy in Indiana. He was named a Rising Star by Mpls.St.Paul Magazine and is a team physician at a local high school. “Having my own personal experiences in sustaining injuries and the subsequent recovery process help provide me insight into my own patients’ conditions and what they are going through,” Dr. Pepin shares. “I also understand the importance of getting my patients back to the activities they want to do, whether that be walking around the block or returning to high-level sports performance.”. Dr. Pepin is rated as an Experienced provider by MediFind in the treatment of Small Patella Syndrome. His top areas of expertise are Tendinitis, Osteoarthritis, Congenital Mirror Movement Disorder, Synovial Osteochondromatosis, and Hip Replacement.

What are the latest Small Patella Syndrome Clinical Trials?
Match to trials
Find the right clinical trials for you in under a minute
Get started
Who are the sources who wrote this article ?

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