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Spondyloepimetaphyseal dysplasia, Shohat type

Disease definition

Spondyloepimetaphyseal dysplasia congenita, Shohat type is characterized by severely disproportionate short stature, short limbs, small chest, short neck, thin lips, severe lumbar lordosis, marked genu varum, joint laxity, distended abdomen, mild hepatomegaly and splenomegaly.

ORPHA:93352

Classification level: Disorder
  • Synonym(s):
    • SEMD, Shohat type
  • Prevalence: <1 / 1 000 000
  • Inheritance: -
  • Age of onset: -
  • ICD-10: Q77.7
  • OMIM: 602557
  • UMLS: C1865185
  • MeSH: -
  • GARD: 4980
  • MedDRA: -
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