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Liebenberg syndrome
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Condition

Liebenberg syndrome

Liebenberg syndrome is a rare genetic condition characterized by abnormal development and limited movement in the elbows, wrists, and hands, where these structures resemble those of the legs and feet.

Overview

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.

In people with Liebenberg syndrome, the bones and tissues of the elbows typically resemble those of the knees, and the arm bones near the elbow are shaped more like related structures in the leg. These changes limit the range of motion in the elbows.

Individuals with Liebenberg syndrome may have bones in the wrists that are joined together (fused), resembling related structures in the ankles and heels. This fusion can cause the hand to bend permanently toward the thumb (radial deviation).

Abnormalities of the hands and fingers may also be seen in individuals with Liebenberg syndrome. The bones in the hand that connect the wrist to the fingers (metacarpals) tend to be longer than normal, resembling the bones in the foot that connect the ankle to the toes. People with Liebenberg syndrome typically have fingers that are short (brachydactyly). Some affected individuals have a little finger that is permanently bent (camptodactyly) or fingers that are fused together (syndactyly).

Individuals with Liebenberg syndrome typically have no other signs and symptoms that are related to this condition. The development of the legs and feet is not affected.

Frequency

Liebenberg syndrome is rare. Fewer than 1 in 1 million people are estimated to have this condition.

Causes

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.

The chromosome changes that cause Liebenberg syndrome involve the deletion, insertion, or rearrangement of genetic material near the PITX1 gene. These changes affect regions of DNA known as regulatory elements that help turn genes on or off during development.

The chromosome changes that are associated with Liebenberg syndrome cause the PITX1 gene to become abnormally active when the arms and hands are developing. Because the PITX1 protein normally directs the development of the legs and feet, the bones and tissues in the arms and hands develop more like those in the legs and feet.

Learn more about the gene and chromosome associated with Liebenberg syndrome

  • PITX1
  • chromosome 5

Inheritance

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.

Also Known As

  • Brachydactyly with joint dysplasia
  • Brachydactyly-elbow wrist dysplasia syndrome
  • Brachydactyly-joint dysplasia syndrome
  • Carpal synostosis with dysplastic elbow joints and brachydactyly
  • LBNBG

Frequently Asked Questions

Most individuals retain the ability to perform basic self‑care with adaptive strategies. Elbow and wrist stiffness may increase with age, so ongoing therapy is important. Hand strength is often limited, but assistive devices (e.g., custom grips, voice‑activated tools) enable independence in school, work, and home environments. Early multidisciplinary care improves quality of life.===
targeted next‑generation sequencing panel for TBX4‑related limb‑development genes (including the known pathogenic variants for Liebenberg syndrome) confirms the diagnosis. Because the condition is autosomal dominant, first‑degree relatives have a 50 % chance of carrying the variant and should be offered predictive testing, especially if they show subtle joint findings.
Surgery is usually reserved for severe functional limitation, such as fixed radial deviation or syndactyly that impedes self‑care. Procedures may include tendon releases, osteotomies, or soft‑tissue reconstructions. Post‑operative outcomes vary; most patients gain modest improvement in grip and positioning, but lifelong therapy is still needed.
Physical therapy focusing on gentle passive stretching, active‑assisted range‑of‑motion exercises, and splinting can maintain joint flexibility. Occupational therapy adds functional hand‑use training and adaptive equipment (e.g., built‑up handles) to aid daily tasks.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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