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.

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.

Other names

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

Inheritance pattern

Autosomal dominant

Related genes

PITX1

Source: MedlinePlus Genetics, U.S. National Library of Medicine.