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Spondyloepimetaphyseal dysplasia, PAPSS2 type

Disease definition

Spondyloepimetaphyseal dysplasia (SEMD), Pakistani type is characterized by short stature, short and bowed lower limbs, mild brachydactyly, kyphoscoliosis, abnormal gait, enlarged knee joints, precocious osteoarthropathy, and normal intelligence.

ORPHA:93282

  • Synonym(s):
    • Spondyloepimetaphyseal dysplasia, Pakistani type
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: -
  • ICD-10: Q77.7
  • OMIM: 612847
  • UMLS: C2748515
  • MeSH: -
  • GARD: -
  • MedDRA: -

Additional information

Further information on this disease

Specialised Social Services

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