GTR Home > Conditions/Phenotypes > Spondyloepimetaphyseal dysplasia, Aggrecan type

Available tests

1 test is in the database for this condition. See lab offering the test.

Check Associated genes for additional relevant tests.

Associated genes

Clinical features

  • Short finger
  • Broad thumb
  • Short neck
  • Absent nasal bridge
  • Relative macrocephaly
  • Posteriorly rotated ears
  • Mesomelia
  • Rhizomelia
  • Malar flattening
  • Mandibular prognathia
  • Low-set ears
  • Joint laxity
  • Barrel-shaped chest
  • Hoarse voice
  • Lumbar hyperlordosis
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