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Acromesomelic dysplasia, Grebe type

Disease definition

A rare autosomal recessive acromesomelic dysplasia characterized by severe dwarfism at birth, abnormalities confined to limbs, severe shortening and deformity of long bones, fusion or absence of carpal and tarsal bones, ball shaped fingers and, occasionally, polydactyly and absent joints. As seen in acromesomelic dysplasia, Hunter-Thomson type and acromesomelic dysplasia, Maroteaux Type, facial features and intelligence are normal.

ORPHA:2098

Classification level: Disorder
  • Synonym(s):
    • Chondrodysplasia, Grebe type
  • Prevalence: Unknown
  • Inheritance: Autosomal recessive 
  • Age of onset: Neonatal
  • ICD-10: Q78.8
  • ICD-11: LD24.9
  • OMIM: 200700
  • UMLS: C0265260
  • MeSH: -
  • GARD: 1300
  • MedDRA: -

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

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.