LMD
MCID: LNG040
MIFTS: 36
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Langer Mesomelic Dysplasia (LMD)
Categories:
Bone diseases, Fetal diseases, Genetic diseases, Rare diseases
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MalaCards integrated aliases for Langer Mesomelic Dysplasia:
Characteristics:Inheritance:OMIM®:57 (Updated 08-Dec-2022)
Miscellaneous:
shox is located in the pseudoautosomal region of the x and y chromosomes lmd is the homozygous form of the less severe leri-weill dyschondrosteosis Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Bone diseases
ICD10:
32
Orphanet: 58
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MedlinePlus Genetics: 42 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 leri-weill dyschondrosteosis and turner syndrome. An important gene associated with Langer Mesomelic Dysplasia is SHOX (Short Stature Homeobox). Affiliated tissues include bone and eye, and related phenotypes are high palate and bowing of the long bones OMIM®: 57 Langer mesomelic dysplasia (LMD) is characterized by severe limb aplasia or severe hypoplasia of the ulna and fibula, and a thickened and curved radius and tibia. These changes can result in displacement deformities of the hands and feet. Hypoplasia of the mandible is also observed (Langer, 1967). See also Leri-Weill dyschondrosteosis (127300), a less severe phenotype that results from heterozygous defect in the SHOX or SHOXY genes. (249700) (Updated 08-Dec-2022) UniProtKB/Swiss-Prot: 73 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. GARD: 19 A rare, genetic skeletal dysplasia characterized by severe disproportionate short stature with mesomelic and rhizomelic shortening of the upper and lower limbs. Orphanet: 58 A rare, genetic skeletal dysplasia characterized by severe disproportionate short stature with mesomelic and rhizomelic shortening of the upper and lower limbs. Wikipedia: 75 Langer Mesomelic Dysplasia (LMD) is a rare congenital disorder characterized by an altered bone... more... |
Human phenotypes related to Langer Mesomelic Dysplasia:58 30 (show all 26)
Symptoms via clinical synopsis from OMIM®:57 (Updated 08-Dec-2022)Clinical features from OMIM®:249700 (Updated 08-Dec-2022) |
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Organs/tissues related to Langer Mesomelic Dysplasia:
MalaCards :
Bone,
Eye
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Articles related to Langer Mesomelic Dysplasia:(show top 50) (show all 65)
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ClinVar genetic disease variations for Langer Mesomelic Dysplasia:5
UniProtKB/Swiss-Prot genetic disease variations for Langer Mesomelic Dysplasia:73
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Search
GEO
for disease gene expression data for Langer Mesomelic Dysplasia.
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