Orphanet: Spondyloepimetaphyseal dysplasia, Geneviève type
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Spondyloepimetaphyseal dysplasia, Geneviève type

Disease definition

Spondyloepimetaphyseal dysplasia, Geneviève type is a rare primary bone dysplasia characterized by severe developmental delay and skeletal dysplasia (including short stature, premature carpal ossification, platyspondyly, longitudinal metaphyseal striations, and small epiphyses), as well as moderate to severe intellectual disability and facial dysmorphism, including prominent forehead, mild synophrys, depressed nasal bridge, prominent bulbous nasal tip and full lips.

ORPHA:168454

Classification level: Disorder
  • Synonym(s):
    • SEMD, Geneviève type
    • SEMDG
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy
  • ICD-10: Q77.7
  • OMIM: 610442
  • UMLS: C1864872
  • MeSH: C535785
  • GARD: 10057
  • MedDRA: -

  A summary on this disease is available in Español (2018) Italiano (2018) Nederlands (2018) Polski ()

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

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