Genetics Home Reference :
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Liebenberg syndrome is a condition that involves abnormal development of the arms, resulting in characteristic arm malformations that can vary in severity. In people with this condition, bones and other tissues in the elbows, forearms, wrists, and hands have characteristics of related structures in the lower limbs. For example, bones in the elbows are abnormally shaped, which affects mobility of the joints. The stiff elbows function more like knees, unable to rotate as freely as elbows normally do. Bones in the wrists are joined together (fused), forming structures that resemble those in the ankles and heels and causing permanent bending of the hand toward the thumb (radial deviation). The bones in the hands (metacarpals) are longer than normal, and the fingers are short (brachydactyly), similar to the proportions of bones found in the feet. In addition, muscles and tendons that are typically found only in the hands and not in the feet are missing in people with Liebenberg syndrome. Affected individuals also have joint deformities (contractures) that limit movement of the elbows, wrists, and hands. Development of the lower limbs is normal in people with this condition.
Individuals with Liebenberg syndrome have no other health problems related to this condition, and life expectancy is normal.
MalaCards based summary :
Liebenberg Syndrome, also known as
brachydactyly with joint dysplasia, is related to
brachydactyly and
congenital limb malformation. An important gene associated with Liebenberg Syndrome is
PITX1 (Paired Like Homeodomain 1). Affiliated tissues include
bone, and related phenotypes are
macrocephaly and
joint stiffness
NIH Rare Diseases :
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The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1275 Definition Brachydactyly -elbow wrist dysplasia syndrome is a rare, genetic bone development disorder characterized by dysplasia of all the bony components of the elbow joint, abnormally shaped carpal bones, wrist joint radial deviation and brachydactyly. Patients typically present with slight flexion at the elbow joints (with impossibilty to perform active extension) and usually associate a limited range of motion of the elbow, wrist and finger articulations. Camptodactyly and syndactyly have also been reported. Visit the Orphanet disease page for more resources.
OMIM :
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Liebenberg syndrome is an upper limb malformation characterized by the combination of dysplastic elbow joints and the fusion of wrist bones with consequent radial deviation (summary by Spielmann et al., 2012).
(186550)
UniProtKB/Swiss-Prot :
73
Liebenberg syndrome: An upper limb-malformation syndrome characterized by the combination of dysplastic elbow joints and the fusion of wrist bones with consequent radial deviation.
Wikipedia :
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Liebenberg Syndrome is a rare autosomal genetic disease that involves a deletion mutation upstream of...
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Rare bone diseases 