Leri-Weill Dyschondrosteosis malady
Categories: Genetic diseases, Rare diseases, Bone diseases, Fetal diseases
Aliases & Descriptions for Leri-Weill Dyschondrosteosis:
Orphanet epidemiological data:51
Inheritance: Autosomal dominant; Age of onset: Neonatal; Age of death: normal life expectancy
Inheritance: autosomal dominant inheritance
Global: Genetic diseases, Rare diseases, Fetal diseases
Anatomical: Bone diseases
NIH Rare Diseases:45 Leri weill dyschondrosteosis is a skeletal dysplasia characterized by short stature and an abnormality of the wrist bones called madelung deformity. short stature is present from birth due to shortening of the long bones in the legs. madelung deformity typically develops during mid-to-late childhood and may progress during puberty. people with this condition often experience pain in their wrists or arms. the severity of leri weill dyschondrosteosis varies among affected individuals, although the signs and symptoms of this condition are generally more severe in females. other features of leri weill dyschondrosteosis can include increased muscle size, bowing of a bone in the leg called the tibia, elbow abnormalities, scoliosis, and high-arched palate. intelligence is not affected by this condition. most cases of leri weill dyschondrosteosis are caused by mutations in or near the shox gene. the cause of the disorder remains unknown in those cases not related to the shox gene. leri weill dyschondrosteosis follows a pseudoautosomal dominant pattern of inheritance. last updated: 3/30/2016
MalaCards based summary: Leri-Weill Dyschondrosteosis, also known as léri-weill dyschondrosteosis, is related to langer mesomelic dysplasia and dyschondrosteosis nephritis, and has symptoms including exostoses, abnormality of the humeroulnar joint and aplastic/hypoplastic toenail. An important gene associated with Leri-Weill Dyschondrosteosis is SHOX (Short Stature Homeobox). Affiliated tissues include bone, skeletal muscle and t cells.
UniProtKB/Swiss-Prot:67 Leri-Weill dyschondrosteosis: Dominantly inherited skeletal dysplasia characterized by moderate short stature predominantly because of short mesomelic limb segments. It is often associated with the Madelung deformity of the wrist, comprising bowing of the radius and dorsal dislocation of the distal ulna.
Genetics Home Reference:23 Léri-Weill dyschondrosteosis is a disorder of bone growth. Affected individuals typically have shortening of the long bones in the arms and legs (mesomelia). As a result of the shortened leg bones, people with Leri-Weill dyschondrosteosis typically have short stature. Most people with the condition also have an abnormality of the wrist and forearm bones called Madelung deformity, which may cause pain and limit wrist movement. This abnormality usually appears in childhood or early adolescence. Other features of Léri-Weill dyschondrosteosis can include increased muscle mass (muscle hypertrophy); bowing of a bone in the lower leg called the tibia; a greater-than-normal angling of the elbow away from the body (increased carrying angle); and a high arched palate.
OMIM:49 Leri-Weill dyschondrosteosis (LWD) is a dominantly inherited skeletal dysplasia characterized by short stature,... (127300) more...
Wikipedia:68 Léri–Weill dyschondrosteosis or LWD is a rare pseudoautosomal dominant genetic disorder which results... more...
Symptoms by clinical synopsis from OMIM:127300
Clinical features from OMIM:127300
Symptoms:51 (show all 31)
HPO human phenotypes related to Leri-Weill Dyschondrosteosis:(show all 61)
MalaCards organs/tissues related to Leri-Weill Dyschondrosteosis:33
Bone, Skeletal muscle, T cells
Articles related to Leri-Weill Dyschondrosteosis:(show all 29)
UniProtKB/Swiss-Prot genetic disease variations for Leri-Weill Dyschondrosteosis:67
Clinvar genetic disease variations for Leri-Weill Dyschondrosteosis:5 (show all 13)
Search GEO for disease gene expression data for Leri-Weill Dyschondrosteosis.
28ICD10 via Orphanet
37MESH via Orphanet
50OMIM via Orphanet
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
66UMLS via Orphanet