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Multiple epiphyseal dysplasia, with miniepiphyses

MedGen UID:
332176
Concept ID:
C1836307
Disease or Syndrome
Synonym: Epiphyseal Dysplasia, Multiple, with Miniepiphyses
SNOMED CT: Multiple epiphyseal dysplasia with miniepiphyses (766750008)
 
Monarch Initiative: MONDO:0012254
OMIM®: 609325
Orphanet: ORPHA166032

Definition

A rare primary bone dysplasia disorder characterized by strikingly small secondary ossification centers (mini-epiphyses) in all or only some joints, resulting in severe bone dysplasia of the proximal femoral heads. Short stature, increased lumbar lordosis, genua vara and generalized joint laxity have also been reported. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVMultiple epiphyseal dysplasia, with miniepiphyses
Follow this link to review classifications for Multiple epiphyseal dysplasia, with miniepiphyses in Orphanet.

Recent clinical studies

Clinical prediction guides

Jakkula E, Mäkitie O, Czarny-Ratajczak M, Jackson GC, Damignani R, Susic M, Briggs MD, Cole WG, Ala-Kokko L
Eur J Hum Genet 2005 Mar;13(3):292-301. doi: 10.1038/sj.ejhg.5201314. PMID: 15523498

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