Langer Mesomelic Dysplasia

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OMIM 57 249700 Orphanet 59 ORPHA2632 ICD10 via Orphanet 34 Q87.1 MESH via Orphanet 45 C537267

UMLS via Orphanet 74 C0432230 MedGen 42 C0432230 SNOMED-CT via HPO 69 258211005 27272007 32958008 74370006 205170001 93288001 4530000 237836003 237837007 422065006 276662009 367510009 more

NIH Rare Diseases : ⁵³ The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 2632Disease definitionLanger mesomelic dysplasia (LMD) is characterized by severe disproportionate short stature with mesomelic and rhizomelic shortening of the upper and lower limbs.EpidemiologyPrevalence is unknown but less than 70 cases have been reported in the literature so far.Clinical descriptionLMD represents a more severe form of Léri-Weill dyschondrosteosis (LWD; see this term) with severely shortened long bones of the limbs (involving both the middle and proximal segments), deformity of the humeral head, angulation of the radial shaft, carpal distortion, a short femoral neck, and absence or hypoplasia of the proximal half of the fibula. Mild hypoplasia of the mandible has been reported in some cases. In contrast to LWD, Madelung deformity (see this term) is not typically present in LMD. Associated malformations are rare and intellect is normal in almost all reported LMD cases.EtiologyLMD is inherited in a pseudoautosomal recessive manner and is associated with homozygous or compound heterozygousmutations and deletions of the Short stature HomeobOX (SHOX) gene (which maps to the pseudoautosomal region 1 (PAR1) of the sex chromosomes; Xp22.33 and Yp11.32) or of the downstream PAR1 (where SHOX enhancer elements are located). LMD is part of a spectrum of disorders (ranging from the most severe, LMD, to LWD, isolated Madelung deformity and so-called idiopathic short stature; see these terms), all associated with SHOX/PAR1 anomalies. The prevalence of SHOX/PAR1 mutations is estimated at 1/1000.Diagnostic methodsDiagnosis of LMD may be suspected on the basis of the clinical and radiologic findings and can be confirmed by molecular analysis (microsatellite analysis, FISH or, preferably, MLPA for PAR1 deletions, high resolution melting (HRM), dHPLC and/or DNA sequencing for point mutations, small deletions and insertions of SHOX).Differential diagnosisLMD may also be suspected by ultrasound at 20 weeks of gestation and at this stage should be differentiated from femur-fibula-ulna (FFU) complex and the Reinhardt-Pfeiffer form of mesomelic dysplasia (see these terms).Antenatal diagnosisPrenatal genetic testing is available; however, requests for testing for these disorders are uncommon but are more frequent for LMD.Genetic counselingGenetic counseling should be proposed and families should be informed that SHOX/PAR1 anomalies are inherited in a pseudoautosomal dominant manner. Each child of an individual with LWD has a 50% chance of inheriting the mutation. If both parents have LWD, the offspring have a 50% chance of having LWD, a 25% chance of having LMD, and a 25% chance of having neither condition. All children of an individual with LMD and an unaffected parent will present with LWD.Management and treatmentThere is no effective treatment for LMD. The symptomatic medical management of children with LMD begins at birth and continues into adulthood. Careful monitoring of height, weight, and head circumference is essential.PrognosisThe short stature and limb deformities are severe but life expectancy is normal.Visit the Orphanet disease page for more resources.

MalaCards based summary : Langer Mesomelic Dysplasia, also known as lmd, is related to leri-weill dyschondrosteosis and ulna and fibula, hypoplasia of. An important gene associated with Langer Mesomelic Dysplasia is SHOX (Short Stature Homeobox). Affiliated tissues include bone and testes, and related phenotypes are high palate and abnormality of the carpal bones

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).

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)

UniProtKB/Swiss-Prot : ⁷⁵ 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 : ⁷⁶ Langer mesomelic dysplasia (LMD) is a rare congenital disorder characterized by an altered bone... more...

Clinical features from OMIM:

249700

Search Clinical Trials , NIH Clinical Center for Langer Mesomelic Dysplasia

Search GEO for disease gene expression data for Langer Mesomelic Dysplasia.