A rare disorder marked by short stature with short extremities (final adult height is 120cm +/- 10cm), and joint malformations leading to multiple joint contractures (principally involving the shoulders, elbows, interphalangeal joints and hips).

Synonyms:

Diastrophic dwarfism

This is just here as a test because I lose it

Term information

database cross reference
  • ICD-11:LD24.03 (- E (Exact mapping: the two concepts are equivalent). - Specific code (The ORPHA code has its own code in the ICD).)
  • UMLS:C0220726 (E (Exact mapping: the two concepts are equivalent))
  • ICD-10:Q77.5 (- E (Exact mapping: the two concepts are equivalent). - Specific code (The ORPHA code has its own code in the ICD).)
  • OMIM:222600 (E (Exact mapping: the two concepts are equivalent))
expertlink
  • https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=628
hasDbXref
  • ICD-10:Q77.5
  • OMIM:222600
  • UMLS:C0220726
  • ICD-11:LD24.03
has age of onset
  • http://www.orpha.net/ORDO/Orphanet_409944
has birth prevalence range
  • http://www.orpha.net/ORDO/Orphanet_409976
has inheritance
  • http://www.orpha.net/ORDO/Orphanet_409930
has point prevalence range
  • http://www.orpha.net/ORDO/Orphanet_409977
notation
  • ORPHA:628
part of
  • http://www.orpha.net/ORDO/Orphanet_93423
  • http://www.orpha.net/ORDO/Orphanet_364536
present in
  • http://www.orpha.net/ORDO/Orphanet_409984
  • http://www.orpha.net/ORDO/Orphanet_410065