Liebenberg SyndromeSymptoms, Doctors, Treatments, Advances & More
Learn About Liebenberg Syndrome
Liebenberg syndrome is a condition that is characterized by abnormal development of the elbows, wrists, and hands. Joint deformities (contractures) that limit the movement of these structures are common. The signs and symptoms and the severity of Liebenberg syndrome can vary among affected individuals.
Liebenberg syndrome is caused by changes in a region of the long (q) arm of chromosome 5 near the PITX1 gene. The PITX1 gene provides instructions for making a protein that plays a critical role in the development of the legs and feet by regulating the activity of other genes involved in their development.
Liebenberg syndrome is rare. Fewer than 1 in 1 million people are estimated to have this condition.
Liebenberg syndrome is inherited in an autosomal dominant pattern, which means that having a genetic change that affects the PITX1 gene on one copy of the chromosome in each cell is sufficient to cause the disorder.
ETSU Physicians & Associates- Pediatrics
. Dr. Russi is rated as an Experienced provider by MediFind in the treatment of Liebenberg Syndrome. His top areas of expertise are Increased Head Circumference, Ehlers-Danlos Syndrome (EDS), Chromosome 8p Deletion, and Chromosome 6q Duplication.
St. Christopher's Pediatric Associates - Roosevelt Blvd
. Dr. Buboltz is rated as an Experienced provider by MediFind in the treatment of Liebenberg Syndrome. His top areas of expertise are Vascular Birthmark, Stork Bite, Autism Spectrum Disorder, and Delayed Growth.
Southern Orthopaedic Alliance PLLC
Ekkehard Bonatz is a Hand Surgeon and an Orthopedics provider in Hoover, Alabama. Dr. Bonatz is rated as an Experienced provider by MediFind in the treatment of Liebenberg Syndrome. His top areas of expertise are Carpal Tunnel Syndrome, Dupuytren Contracture, Rhizarthrosis, and Tenosynovitis. Dr. Bonatz is currently accepting new patients.
Published Date: January 05, 2026
Published By: National Institutes of Health