|
LMD
MCID: LNG040
MIFTS: 33
|
Langer Mesomelic Dysplasia (LMD) malady
Categories:
Genetic diseases, Rare diseases, Bone diseases, Fetal diseases
|
|
|
|
Aliases & Descriptions for Langer Mesomelic Dysplasia:
Characteristics:Orphanet epidemiological data:56
langer mesomelic dysplasia
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy; HPO:32Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Bone diseases
ICD10:
34
|
|
Genetics Home Reference
:
25
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 epiphysis morphology, high palate and bowing of the long bones. An important gene associated with Langer Mesomelic Dysplasia is SHOX (Short Stature Homeobox). Affiliated tissues include bone. OMIM : 54 Langer mesomelic dysplasia (LMD) is characterized by severe limb aplasia or severe hypoplasia of the ulna and fibula,... (249700) more... UniProtKB/Swiss-Prot : 66 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 : 71 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 the top 20 diseases related to Langer Mesomelic Dysplasia:
|
Human phenotypes related to Langer Mesomelic Dysplasia:56 32 (show all 23)
|
|
|
Genetic tests related to Langer Mesomelic Dysplasia:
|
MalaCards organs/tissues related to Langer Mesomelic Dysplasia:39
Bone
|
Articles related to Langer Mesomelic Dysplasia:(show all 14)
|
Genes related to Langer Mesomelic Dysplasia (1 elite genes):
- Elite gene
- Cancer Census gene in COSMIC
|
UniProtKB/Swiss-Prot genetic disease variations for Langer Mesomelic Dysplasia:66
ClinVar genetic disease variations for Langer Mesomelic Dysplasia:6
|
|
Search
GEO
for disease gene expression data for Langer Mesomelic Dysplasia.
|
|
|
|