Orphanet: Acromesomelic dysplasia, Hunter Thompson type
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Acromesomelic dysplasia, Hunter-Thompson type

Disease definition

A rare autosomal recessive acromesomelic dysplasia characterized by severe dwarfism (adult height approximately 120 cm) with abnormalities limited to the limbs (affecting the lower limbs more than upper limbs, with middle and distal segments being the most affected), severe shortening, absence or fusion of tubular bones of hands and feet and large joint dislocations. As seen in acromesomelic dysplasia, Grebe type and acromesomelic dysplasia, Maroteaux type, facial features and intelligence are normal.

ORPHA:968

Classification level: Disorder
  • Synonym(s):
    • Acromesomelic dwarfism
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Neonatal
  • ICD-10: Q78.8
  • OMIM: 201250
  • UMLS: C2930970
  • MeSH: -
  • GARD: 506
  • MedDRA: -

  A summary on this disease is available in Español (2015) Français (2015) Italiano (2015) Nederlands (2015) Português (2003) Deutsch (2005)

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

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