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Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type

Disease definition

Spondyloepimetaphyseal dysplasia with multiple dislocations is a rare genetic primary bone dysplasia disorder characterized by midface hypoplasia, short stature, generalized joint laxity, multiple joint dislocations (most frequently of knees and hips), limb malalignment (genu valgum/varum) and progressive spinal deformity (e.g. kyphosis/scoliosis). Radiography reveals distinctive slender metacarpals and metatarsals, as well as small, irregular epiphyses, metaphyseal irregularities with vertical striations, constricted femoral necks and mild platyspondyly, among others.


Classification level: Disorder
  • Synonym(s):
    • SEMD-MD
    • SEMDJL2
    • Spondyloepimetaphyseal dysplasia with joint laxicity, Hall type
    • Spondyloepimetaphyseal dysplasia with joint laxity type 2
    • Spondyloepimetaphyseal dysplasia with multiple dislocations, Hall type
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q77.7
  • ICD-11: LD24.3
  • OMIM: 603546
  • UMLS: C1863732
  • MeSH: C535784
  • GARD: 9866
  • MedDRA: -
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