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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?
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.

Experienced in Small Patella Syndrome
Experienced in Small Patella Syndrome

Vero Orthopaedics And Neurology

3955 Indian River Blvd, 
Vero Beach, FL 
Languages Spoken:
English, Spanish
Accepting New Patients
Offers Telehealth

Alfredo Arrojas is an Orthopedics provider in Vero Beach, Florida. Dr. Arrojas is rated as an Experienced provider by MediFind in the treatment of Small Patella Syndrome. His top areas of expertise are Osteoarthritis, Bursitis, Bowlegs, Knock Knees, and Hip Replacement. Dr. Arrojas is currently accepting new patients.

 
 
 
 
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Advanced in Small Patella Syndrome
Pediatric Orthopedics
Advanced in Small Patella Syndrome
Pediatric Orthopedics
Madigan Army Medical Ctr, 
Tacoma, WA 
Languages Spoken:
English, Arabic, Filipino, Hindi, Korean, Portuguese, Punjabi, Russian, Spanish, Ukrainian
Accepting New Patients
Offers Telehealth

Nathan Frost is a Pediatric Orthopedics provider in Tacoma, Washington. Dr. Frost is rated as an Advanced provider by MediFind in the treatment of Small Patella Syndrome. His top areas of expertise are Sandhaus Ben-Ami Syndrome, Small Patella Syndrome, Hypoplasia of the Tibia with Polydactyly, Knock Knees, and Osteotomy. Dr. Frost is currently accepting new patients.

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