Orphanet: Anauxetic dysplasia
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Anauxetic dysplasia

Disease definition

A rare spondyloepimetaphyseal dysplasia characterized by severe short-limb short stature beginning prenatally, joint hypermobility, dental abnormalities, dysmorphic facial features (including hypertelorism, midface hypoplasia, macroglossia, and prognathism), and other skeletal anomalies (such as atlantoaxial subluxation causing compression of the spinal cord, kyphoscoliosis, hip dislocation, or rocker-bottom feet). Mild intellectual disability may also be present.

ORPHA:93347

Classification level: Disorder
  • Synonym(s):
    • Spondyloepimetaphyseal dysplasia, Menger type
    • Spondyloepimetaphyseal dysplasia, anauxetic type
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Antenatal, Neonatal
  • ICD-10: Q77.7
  • OMIM: 607095  617396  618853
  • UMLS: C1846796
  • MeSH: C538256
  • GARD: 9657
  • MedDRA: -

Detailed information

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