Small Patella Syndrome Overview

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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?
Dr. David M. Hirschi
Sports Medicine
Dr. David M. Hirschi
Sports Medicine

Thedacare, Incorporated

820 E Grant St, 
Appleton, WI 
 (96.6 mi)
920-831-5050
Languages Spoken:
English
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Accepting New Patients

David Hirschi is a Sports Medicine provider in Appleton, Wisconsin. Dr. Hirschi and is rated as an Experienced provider by MediFind in the treatment of Small Patella Syndrome. His top areas of expertise are Tendinitis, Small Patella Syndrome, and Sandhaus Ben-Ami Syndrome. Dr. Hirschi is currently accepting new patients.

Dr. Dennys E. Maldonado
Sports Medicine
Dr. Dennys E. Maldonado
Sports Medicine

Mercy Health System Corporation

3524 E Milwaukee St, 
Janesville, WI 
 (40.9 mi)
608-756-7100
Languages Spoken:
English
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Accepting New Patients

Dennys Maldonado is a Sports Medicine provider in Janesville, Wisconsin. Dr. Maldonado and is rated as an Experienced provider by MediFind in the treatment of Small Patella Syndrome. His top areas of expertise are Tendinitis, Bursitis, Relapsing Multiple Sclerosis (RMS), and Tennis Elbow. Dr. Maldonado is currently accepting new patients.

 
 
 
 
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Dr. Kirk D. Dimitris
Orthopedics
Dr. Kirk D. Dimitris
Orthopedics

Baycare Clinic Llp

1160 Kepler Dr, 
Green Bay, WI 
 (110.8 mi)
920-288-5555
Languages Spoken:
English
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Accepting New Patients

Kirk Dimitris is an Orthopedics provider in Green Bay, Wisconsin. Dr. Dimitris and is rated as an Experienced provider by MediFind in the treatment of Small Patella Syndrome. His top areas of expertise are Osteoarthritis, Bursitis, Tenosynovitis, Hip Replacement, and Knee Replacement. Dr. Dimitris is currently accepting new patients.

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