Orphanet: SPONASTRIME dysplasia
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SPONASTRIME dysplasia

Disease definition

A rare, genetic, spondyloepimetaphyseal dysplasia disease characterized by short-limbed short stature (more pronounced in lower limbs) associated with characterisitic facial dysmorphism (i.e. relative macrocephaly, frontal bossing, midface hypoplasia, depressed nasal root, small upturned nose, prognathism) and abnormal radiological findings, which include abnormal vertebral bodies (particularly in the lumbar region), striated metaphyses, generalized mild osteoporosis, and delayed ossification of the carpal bones. Progressive coxa vara, short dental roots, hypogammaglobulinemia and cataracts may be occasionally associated.

ORPHA:93357

Classification level: Disorder
  • Synonym(s):
    • Spondylar and nasal changes with striations of the metaphyses (SPONASTRIME) dysplasia
    • Spondyloepimetaphyseal dysplasia, Sponastrime type
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Neonatal, Infancy
  • ICD-10: Q77.7
  • OMIM: 271510
  • UMLS: C1300260
  • MeSH: -
  • GARD: 4970
  • MedDRA: -

  A summary on this disease is available in Deutsch (2019) Español (2019) Français (2019) Italiano (2019) Nederlands (2019)

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