Orphanet: Colobomatous microphthalmia rhizomelic dysplasia syndrome

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Colobomatous microphthalmia-rhizomelic dysplasia syndrome

Disease definition

Colobomatous microphthalmia-rhizomelic dysplasia syndrome is a rare, genetic developmental defect during embryogenesis characterized by a range of developmental eye anomalies (including anophthalmia, microphthalmia, colobomas, microcornea, corectopia, cataract) and symmetric limb rhizomelia with short stature and contractures of large joints. Intellectual disability with autistic features, macrocephaly, dysmorphic features, urogenital anomalies (hypospadia, cryptorchidism), cutaneous syndactyly and precocious puberty may also be present.


Classification level: Disorder
  • Synonym(s):
    • Microphthalmia-coloboma-rhizomelic skeletal dysplasia
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant or Autosomal recessive 
  • Age of onset: Neonatal, Antenatal
  • ICD-10: Q87.5
  • OMIM: 615877
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -
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