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Achondrogenesis type 1A

Orpha number ORPHA93299
Synonym(s) Achondrogenesis, Houston-Harris type
Prevalence Unknown
Inheritance Autosomal recessive
Age of onset Infancy
Neonatal
ICD-10
  • Q77.0
ICD-O -
OMIM
UMLS
  • C0265273
MeSH
  • C536015
MedDRA -
SNOMED CT
  • 42725006

Summary

Achondrogenesis type 1A (ACG1A), a form of achondrogenesis (see this term), is a very rare, lethal skeletal dysplasia characterized by dwarfism with extremely short limbs, narrow chest, short ribs that are easily fractured, soft skull bones and distinctive histological features of the cartilage.


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