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Microcephalic osteodysplastic primordial dwarfism types I and III

Disease definition

Microcephalic osteodysplastic primordial dwarfism (MOPD) types 1 and 3 are characterized by intrauterine and postnatal growth retardation, microcephaly, facial dysmorphism, skeletal dysplasia, low-birth weight and brain anomalies. Although MOPD types 1 and 3 were originally described as two separate entities on the basis of radiological criteria (notably small differences in pelvic and long bone structure), later reports confirmed that the two forms represent different modes of expression of the same syndrome.

ORPHA:2636

  • Synonym(s):
    • MOPD types I and III
    • Microcephalic osteodysplastic primordial dwarfism, Taybi-Linder type
    • Primordial microcephalic dwarfism, Crachami type
    • Taybi-Linder syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q87.1
  • OMIM: 210710  210730
  • UMLS: -
  • MeSH: -
  • GARD: 5120
  • MedDRA: -

Additional information

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