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Ulna metaphyseal dysplasia syndrome

Disease definition

Ulna metaphyseal dysplasia syndrome is a rare primary bone dysplasia characterized by dysplasia of the distal ulnar metaphyses, as well as metacarpal/metatarsal dysplasia and metaphyseal changes resembling enchondromata. Patients usually present bony swelling of the wrists with or without pain (knees and ankles may also be affected). Other variably associated features include platyspondyly, skeletal development delay, short stature and coxa valga.

ORPHA:1837

Classification level: Disorder
  • Synonym(s):
    • Rosenberg-Lohr syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: -
  • Age of onset: Adolescent
  • ICD-10: Q78.5
  • ICD-11: LD24.7
  • OMIM: 191420
  • UMLS: C1860615
  • MeSH: C536935
  • GARD: 4740
  • MedDRA: -

  A summary on this disease is available in Deutsch (2017) Español (2017) Français (2017) Italiano (2017) Nederlands (2017)

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.