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Langer mesomelic dysplasia syndrome(LMD)

MedGen UID:
96585
Concept ID:
C0432230
Congenital Abnormality; Disease or Syndrome
Synonyms: Dyschondrosteosis, homozygous; Langer Mesomelic Dwarfism; Langer mesomelic dysplasia; LMD; Mesomelic dwarfism of the hypoplastic ulna, fibula and mandible type
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: HPO
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 homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
SNOMED CT: Mesomelic dysplasia - Langer type (38494008); Homozygous dyschondrosteosis (38494008); Langer mesomelic dysplasia syndrome (38494008); Homozygous Leri-Weill dyschondrosteosis syndrome (38494008)
 
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 GHR
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).  http://ghr.nlm.nih.gov/condition/langer-mesomelic-dysplasia

Clinical features

Micromelia
MedGen UID:
10031
Concept ID:
C0025995
Congenital Abnormality
The presence of abnormally small extremities.
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.
Ulnar deviation of finger
MedGen UID:
68543
Concept ID:
C0231679
Finding
Bending or curvature of a finger toward the ulnar side (i.e., away from the thumb). The deviation is at the metacarpal-phalangeal joint, and this finding is distinct from clinodactyly.
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
A congenital deformity characterized by the presence of hypoplastic radius. It is usually associated with club hand deformity.
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).
Rudimentary fibula
MedGen UID:
337066
Concept ID:
C1844706
Finding
Absent or nearly absent fibula.
Shortening of the tibia
MedGen UID:
344461
Concept ID:
C1855277
Finding
Radial bowing
MedGen UID:
347136
Concept ID:
C1859399
Finding
A bending or abnormal curvature of the radius.
Fryns Hofkens Fabry syndrome
MedGen UID:
395934
Concept ID:
C1860614
Disease or Syndrome
Underdevelopment of the ulna.
Broad ulna
MedGen UID:
866459
Concept ID:
C4020692
Anatomical Abnormality
Increased width of the ulna.
Abnormality of the femur
MedGen UID:
867385
Concept ID:
C4021750
Anatomical Abnormality
Abnormality of the femur.
Abnormality of the fibula
MedGen UID:
871187
Concept ID:
C4025664
Anatomical Abnormality
An anomaly of the calf bone (fibula), one of the two bones of the calf.
Short stature
MedGen UID:
87607
Concept ID:
C0349588
Finding
Height greater than two standard deviations below the mean of the appropriate reference population for the age and sex of the individual.
Short stature, disproportionate mesomelic
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 functioning disability
MedGen UID:
7544
Concept ID:
C0025362
Mental or Behavioral Dysfunction
Subnormal intellectual functioning which originates during the developmental period. Intellectual disability, previously referred to as mental retardation, has been defined as an IQ score below 70.
Congenital micrognathism
MedGen UID:
44428
Concept ID:
C0025990
Congenital Abnormality
Developmental hypoplasia of the mandible.
Micromelia
MedGen UID:
10031
Concept ID:
C0025995
Congenital Abnormality
The presence of abnormally small extremities.
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.
Ulnar deviation of finger
MedGen UID:
68543
Concept ID:
C0231679
Finding
Bending or curvature of a finger toward the ulnar side (i.e., away from the thumb). The deviation is at the metacarpal-phalangeal joint, and this finding is distinct from clinodactyly.
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
A congenital deformity characterized by the presence of hypoplastic radius. It is usually associated with club hand deformity.
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).
Rudimentary fibula
MedGen UID:
337066
Concept ID:
C1844706
Finding
Absent or nearly absent fibula.
Shortening of the tibia
MedGen UID:
344461
Concept ID:
C1855277
Finding
Radial bowing
MedGen UID:
347136
Concept ID:
C1859399
Finding
A bending or abnormal curvature of the radius.
Fryns Hofkens Fabry syndrome
MedGen UID:
395934
Concept ID:
C1860614
Disease or Syndrome
Underdevelopment of the ulna.
Broad ulna
MedGen UID:
866459
Concept ID:
C4020692
Anatomical Abnormality
Increased width of the ulna.
Abnormality of epiphysis morphology
MedGen UID:
867251
Concept ID:
C4021611
Anatomical Abnormality
An anomaly of epiphysis, which is the expanded articular end of a long bone that developes from a secondary ossification center, and which during the period of growth is either entirely cartilaginous or is separated from the shaft by a cartilaginous disk.
Abnormality of the femur
MedGen UID:
867385
Concept ID:
C4021750
Anatomical Abnormality
Abnormality of the femur.
Abnormality of the fibula
MedGen UID:
871187
Concept ID:
C4025664
Anatomical Abnormality
An anomaly of the calf bone (fibula), one of the two bones of the calf.
Congenital micrognathism
MedGen UID:
44428
Concept ID:
C0025990
Congenital Abnormality
Developmental hypoplasia of the mandible.
Abnormality of the palate
MedGen UID:
867440
Concept ID:
C4021815
Anatomical Abnormality
Any abnormality of the palate, i.e., of roof of the mouth.

Term Hierarchy

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

Recent clinical studies

Etiology

Aza-Carmona M, Barca-Tierno V, Hisado-Oliva A, Belinchón A, Gorbenko-del Blanco D, Rodriguez JI, Benito-Sanz S, Campos-Barros A, Heath KE
PLoS One 2014;9(1):e83104. Epub 2014 Jan 8 doi: 10.1371/journal.pone.0083104. PMID: 24421874Free 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. [Epub ahead of print] PMID: 23636926
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. [Epub ahead of print] PMID: 21712857Free PMC Article
Castriota-Scanderbeg A
J Endocrinol Invest 2010 Jun;33(6 Suppl):26-9. PMID: 21057182
Reish O, Huber C, Altarescu G, Chapman-Shimshoni D, Levy-Lahad E, Renbaum P, Mashevich M, Munnich A, Cormier-Daire V
Am J Med Genet A 2010 Sep;152A(9):2230-5. doi: 10.1002/ajmg.a.33563. PMID: 20683993

Diagnosis

Bunyan DJ, Taylor EJ, Maloney VK, Blyth M
Am J Med Genet A 2014 Nov;164A(11):2764-8. Epub 2014 Aug 13 doi: 10.1002/ajmg.a.36724. [Epub ahead of print] PMID: 25125269
Ambrosetti F, Palicelli A, Bulfamante G, Rivasi F
Fetal Pediatr Pathol 2014 Apr;33(2):71-83. Epub 2013 Jul 24 doi: 10.3109/15513815.2013.807322. [Epub ahead of print] PMID: 23883335
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. [Epub ahead of print] 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. [Epub ahead of print] PMID: 22510850Free PMC Article
Balci S, Zafer Y, Unsal M
Turk J Pediatr 1999 Oct-Dec;41(4):531-9. PMID: 10770125

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. [Epub ahead of print] PMID: 19850687

Prognosis

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. [Epub ahead of print] 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. [Epub ahead of print] PMID: 22510850Free PMC Article

Clinical prediction guides

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. [Epub ahead of print] 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. [Epub ahead of print] 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. [Epub ahead of print] PMID: 19850687
Bleyl SB, Byrne JL, South ST, Dries DC, Stevenson DA, Rope AF, Vianna-Morgante AM, Schoenwolf GC, Kivlin JD, Brothman A, Carey JC
Am J Med Genet A 2007 Dec 1;143A(23):2785-95. doi: 10.1002/ajmg.a.32036. PMID: 17994562
Blaschke RJ, Rappold GA
Trends Endocrinol Metab 2000 Aug;11(6):227-30. PMID: 10878753

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