GTR Home > Conditions/Phenotypes > Langer mesomelic dysplasia syndrome

Summary

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]

Clinical features

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  • Ulnar deviation of finger
  • Short stature
  • Mesomelia
  • Rudimentary fibula
  • Short femoral neck
  • Micrognathia
  • Shortening of the tibia
  • Abnormality of the palate
  • Abnormality of the femur
  • Lumbar hyperlordosis
  • Micromelia
  • Hypoplasia of the radius
  • Radial bowing
  • Abnormality of the fibula
  • Hypoplasia of the ulna
  • Madelung deformity
  • Broad ulna
  • Abnormality of the epiphyses
  • Mesomelic short stature
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