Orphanet: Achondrogenesis
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Achondrogenesis

Disease definition

A rare group of lethal skeletal dysplasias characterized by an endochondral ossification deficiency that leads to dwarfism with extreme micromelia, a small thorax, a prominent abdomen, anasarca and polyhydramnios. There are three types of achondrogenesis that exist and that differ clinically, radiologically, histologically and genetically: achondrogensis type 1a, type 1b and type 2.

ORPHA:932

Classification level: Disorder
  • Synonym(s): -
  • Prevalence: Unknown
  • Inheritance: Autosomal dominant or Autosomal recessive 
  • Age of onset: Neonatal, Antenatal
  • ICD-10: Q77.0
  • ICD-11: LD24.50
  • OMIM: 200600  200610  600972
  • UMLS: C0001079
  • MeSH: -
  • GARD: 2882
  • MedDRA: 10066122

  A summary on this disease is available in Deutsch (2003) Italiano (2003) Português (2003) Español (2014) Français (2014) Nederlands (2014)

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.