U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Progressive calcification of costochondral cartilage

MedGen UID:
368474
Concept ID:
C1968577
Finding
HPO: HP:0006600

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVProgressive calcification of costochondral cartilage

Conditions with this feature

Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome
MedGen UID:
338595
Concept ID:
C1849011
Disease or Syndrome
Spondylometaepiphyseal dysplasia, short limb-hand type is an autosomal recessive disorder with clinical and radiologic features of disproportionate short stature, platyspondyly, abnormal epiphyses and metaphyses, shortening of the lower and upper limbs, short and broad fingers, and premature calcifications. The disorder is progressive with respect to the severity of the bowing of the lower limbs and the appearance of calcifications, with some patients being wheelchair-bound from age 11 years (Bargal et al., 2009).

Recent clinical studies

Etiology

Barchilon V, Hershkovitz I, Rothschild BM, Wish-Baratz S, Latimer B, Jellema LM, Hallel T, Arensburg B
Am J Forensic Med Pathol 1996 Sep;17(3):239-47. doi: 10.1097/00000433-199609000-00012. PMID: 8870876

Supplemental Content

Table of contents

    Clinical resources

    Consumer resources

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...