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Achondrogenesis type 1B

Disease definition

A rare, lethal type of achondrogenesis characterized by severe micromelia with very short fingers and toes, a flat face, a short neck, thickened soft tissue around the neck, hypoplasia of the thorax, protuberant abdomen, a hydropic fetal appearance and distinctive histological features of the cartilage.

ORPHA:93298

Classification level: Subtype of disorder
  • Synonym(s):
    • Achondrogenesis, Parenti-Fraccaro type
  • Prevalence: Unknown
  • Inheritance: Autosomal recessive 
  • Age of onset: Antenatal, Neonatal
  • ICD-10: Q77.0
  • OMIM: 600972
  • UMLS: C0265274
  • MeSH: C536016
  • GARD: 460
  • MedDRA: -

Detailed information

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