Langer Mesomelic Dysplasia malady
Categories: Genetic diseases, Rare diseases, Bone diseases, Fetal diseases
Aliases & Descriptions for Langer Mesomelic Dysplasia:
Orphanet epidemiological data:52
langer mesomelic dysplasia:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy
langer mesomelic dysplasia:
Inheritance: autosomal recessive inheritance
Global: Genetic diseases, Rare diseases, Fetal diseases
Anatomical: Bone diseases
Genetics Home Reference:24 Langer mesomelic dysplasia is a disorder of bone growth. Affected individuals typically have extreme shortening of the long bones in the arms and legs (mesomelia). As a result of the shortened leg bones, people with Langer mesomelic dysplasia have very short stature. A bone in the forearm called the ulna and a bone in the lower leg called the fibula are often underdeveloped or absent, while other bones in the forearm (the radius) and lower leg (the tibia) are unusually short, thick, and curved. Some people with Langer mesomelic dysplasia also have an abnormality of the wrist and forearm bones called Madelung deformity, which may cause pain and limit wrist movement. Additionally, some affected individuals have mild underdevelopment of the lower jaw bone (mandible).
MalaCards based summary: Langer Mesomelic Dysplasia, also known as lmd, is related to langer mesomelic dwarfism and leri-weill dyschondrosteosis, and has symptoms including abnormality of the palate, abnormality of the femur and micromelia. An important gene associated with Langer Mesomelic Dysplasia is SHOX (Short Stature Homeobox). Affiliated tissues include bone.
OMIM:50 Langer mesomelic dysplasia (LMD) is characterized by severe limb aplasia or severe hypoplasia of the ulna and fibula,... (249700) more...
UniProtKB/Swiss-Prot:68 Langer mesomelic dysplasia: Autosomal recessive rare skeletal dysplasia characterized by severe short stature owing to shortening and maldevelopment of the mesomelic and rhizomelic segments of the limbs. Associated malformations are rarely reported and intellect is normal in all affected subjects reported to date.
Wikipedia:69 Langer mesomelic dysplasia (LMD) is a rare congenital disorder characterized by an altered bone... more...
Diseases related to Langer Mesomelic Dysplasia via text searches within MalaCards or GeneCards Suite gene sharing:
Graphical network of diseases related to Langer Mesomelic Dysplasia:
Symptoms by clinical synopsis from OMIM:249700
Clinical features from OMIM:249700
Symptoms:52 (show all 13)
HPO human phenotypes related to Langer Mesomelic Dysplasia:(show all 21)
MalaCards organs/tissues related to Langer Mesomelic Dysplasia:34
Articles related to Langer Mesomelic Dysplasia:(show all 14)
UniProtKB/Swiss-Prot genetic disease variations for Langer Mesomelic Dysplasia:68
Clinvar genetic disease variations for Langer Mesomelic Dysplasia:5
Search GEO for disease gene expression data for Langer Mesomelic Dysplasia.
29ICD10 via Orphanet
38MESH via Orphanet
51OMIM via Orphanet
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
67UMLS via Orphanet