Liebenberg Syndrome (LBNBG)

External Ids:

OMIM® 57 186550 MeSH 44 D006228 D013580 D059327 ICD10 via Orphanet 33 Q73.8 Orphanet 58 ORPHA1275

MedGen 41 C1861313 SNOMED-CT via HPO 68 125617002 202271004 205139009 263681008 417558002 43476002 84445001 more UMLS 71 C1861313

MedlinePlus Genetics : ⁴³ 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). Related phenotypes are macrocephaly and joint stiffness

GARD : ²⁰ The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 1275DefinitionBrachydactyly-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® : ⁵⁷ 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) (Updated 05-Mar-2021)

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 : ⁷⁴ Liebenberg Syndrome is a rare autosomal genetic disease that involves a deletion mutation upstream of... more...

Clinical features from OMIM®:

186550 (Updated 05-Mar-2021)

Search Clinical Trials , NIH Clinical Center for Liebenberg Syndrome

Search GEO for disease gene expression data for Liebenberg Syndrome.