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Langer mesomelic dysplasia syndrome(LMD)

MedGen UID:
96585
Concept ID:
C0432230
Disease or Syndrome
Synonyms: Dyschondrosteosis, homozygous; Langer Mesomelic Dwarfism; Langer mesomelic dysplasia; LMD; Mesomelic dwarfism of the hypoplastic ulna, fibula and mandible type
SNOMED CT: Mesomelic dysplasia - Langer type (38494008); Homozygous dyschondrosteosis (38494008); Langer mesomelic dysplasia syndrome (38494008); Homozygous Leri-Weill dyschondrosteosis syndrome (38494008)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
 
Gene (location): SHOX (Xp22.33;Yp11.2)
 
Monarch Initiative: MONDO:0009588
OMIM®: 249700
Orphanet: ORPHA2632

Definition

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. [from OMIM]

Additional description

From MedlinePlus Genetics
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).  https://medlineplus.gov/genetics/condition/langer-mesomelic-dysplasia

Clinical features

From HPO
Madelung deformity
MedGen UID:
57537
Concept ID:
C0152441
Congenital Abnormality
An anomaly related to partial closure, or failure of development of the ulnar side of the distal radial growth plate, which results in an arrest of epiphyseal growth of the medial and volar portions of the distal radius. This leads to shortening of the radius and relative overgrowth of the ulna.
Mesomelia
MedGen UID:
107808
Concept ID:
C0549306
Congenital Abnormality
Shortening of the middle parts of the limbs (forearm and lower leg) in relation to the upper and terminal segments.
Hypoplasia of the radius
MedGen UID:
672334
Concept ID:
C0685381
Congenital Abnormality
Underdevelopment of the radius.
Fibular hypoplasia
MedGen UID:
316909
Concept ID:
C1832119
Finding
Underdevelopment of the fibula.
Rudimentary fibula
MedGen UID:
337066
Concept ID:
C1844706
Finding
Absent or nearly absent fibula. (Does not include aplastic)
Short tibia
MedGen UID:
338005
Concept ID:
C1850259
Finding
Underdevelopment (reduced size) of the tibia.
Increased carrying angle
MedGen UID:
343361
Concept ID:
C1855478
Finding
An abnormal increase in the carrying angle, which is the angle he long axis of the extended forearm as it lies lateral to the long axis of the arm.
Radial bowing
MedGen UID:
347136
Concept ID:
C1859399
Anatomical Abnormality
A bending or abnormal curvature of the radius.
Hypoplasia of the ulna
MedGen UID:
395934
Concept ID:
C1860614
Congenital Abnormality
Underdevelopment of the ulna.
Mesomelic arm shortening
MedGen UID:
350587
Concept ID:
C1862087
Finding
Shortening of the middle parts of the arm in relation to the upper and terminal segments.
Rhizomelic arm shortening
MedGen UID:
409853
Concept ID:
C1969532
Finding
Disproportionate shortening of the proximal segment of the arm (i.e. the humerus).
Broad ulna
MedGen UID:
892713
Concept ID:
C4025460
Anatomical Abnormality
Increased width of the ulna.
Mesomelic short stature
MedGen UID:
340834
Concept ID:
C1855274
Finding
A type of disproportionate short stature characterized by disproportionate shortening of the medial parts of the extremities (forearm or lower leg).
Intellectual disability
MedGen UID:
811461
Concept ID:
C3714756
Mental or Behavioral Dysfunction
Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.
Micrognathia
MedGen UID:
44428
Concept ID:
C0025990
Congenital Abnormality
Developmental hypoplasia of the mandible.
Lumbar hyperlordosis
MedGen UID:
263149
Concept ID:
C1184923
Finding
An abnormal accentuation of the inward curvature of the spine in the lumbar region.
Short femoral neck
MedGen UID:
373033
Concept ID:
C1836184
Finding
An abnormally short femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft).
High palate
MedGen UID:
66814
Concept ID:
C0240635
Congenital Abnormality
Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective).

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVLanger mesomelic dysplasia syndrome

Professional guidelines

PubMed

Bunyan DJ, Baker KR, Harvey JF, Thomas NS
Am J Med Genet A 2013 Jun;161A(6):1329-38. Epub 2013 May 1 doi: 10.1002/ajmg.a.35919. PMID: 23636926
Albuisson J, Schmitt S, Baron S, Bézieau S, Benito-Sanz S, Heath KE
Eur J Hum Genet 2012 Aug;20(8) Epub 2012 Apr 18 doi: 10.1038/ejhg.2012.64. PMID: 22510850Free PMC Article

Recent clinical studies

Therapy

Iughetti L, Madeo S, Predieri B
J Endocrinol Invest 2010 Jun;33(6 Suppl):34-8. PMID: 21057184
Shah BC, Moran ES, Zinn AR, Pappas JG
J Clin Endocrinol Metab 2009 Dec;94(12):5028-33. Epub 2009 Oct 22 doi: 10.1210/jc.2009-0679. PMID: 19850687

Prognosis

Gürsoy S, Hazan F, Aykut A, Nalbantoğlu Ö, Korkmaz HA, Demir K, Özkan B, Çoğulu Ö
J Clin Res Pediatr Endocrinol 2020 Nov 25;12(4):358-365. Epub 2020 Apr 16 doi: 10.4274/jcrpe.galenos.2020.2019.0001. PMID: 32295321Free PMC Article
Bunyan DJ, Baker KR, Harvey JF, Thomas NS
Am J Med Genet A 2013 Jun;161A(6):1329-38. Epub 2013 May 1 doi: 10.1002/ajmg.a.35919. PMID: 23636926
Albuisson J, Schmitt S, Baron S, Bézieau S, Benito-Sanz S, Heath KE
Eur J Hum Genet 2012 Aug;20(8) Epub 2012 Apr 18 doi: 10.1038/ejhg.2012.64. PMID: 22510850Free PMC Article
Goldblatt J, Wallis C, Viljoen D, Beighton P
Clin Genet 1987 Jan;31(1):19-24. doi: 10.1111/j.1399-0004.1987.tb02762.x. PMID: 3568430

Clinical prediction guides

Poggi H, Vera A, Avalos C, Lagos M, Mellado C, Aracena M, Aravena T, Garcia H, Godoy C, Cattani A, Reyes L, Lacourt P, Rumie H, Mericq V, Arriaza M, Martinez-Aguayo A
Horm Res Paediatr 2015;84(4):254-7. Epub 2015 Sep 3 doi: 10.1159/000439109. PMID: 26337568
Hristov G, Marttila T, Durand C, Niesler B, Rappold GA, Marchini A
Hum Mol Genet 2014 Mar 15;23(6):1619-30. Epub 2013 Nov 1 doi: 10.1093/hmg/ddt552. PMID: 24186869
Barca-Tierno V, Aza-Carmona M, Barroso E, Heine-Suner D, Azmanov D, Rosell J, Ezquieta B, Montané LS, Vendrell T, Cruz J, Santos F, Rodríguez JI, Pozo J, Argente J, Kalaydjieva L, Gracía R, Campos-Barros A, Benito-Sanz S, Heath KE
Eur J Hum Genet 2011 Dec;19(12):1218-25. Epub 2011 Jun 29 doi: 10.1038/ejhg.2011.128. PMID: 21712857Free PMC Article
Shah BC, Moran ES, Zinn AR, Pappas JG
J Clin Endocrinol Metab 2009 Dec;94(12):5028-33. Epub 2009 Oct 22 doi: 10.1210/jc.2009-0679. PMID: 19850687
Blaschke RJ, Rappold GA
Trends Endocrinol Metab 2000 Aug;11(6):227-30. doi: 10.1016/s1043-2760(00)00262-9. PMID: 10878753

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