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Cone-shaped distal radial epiphysis

MedGen UID:
870994
•Concept ID:
C4025457
•
Anatomical Abnormality
Synonym: Chevron-shaped distal radial epiphysis
 
HPO: HP:0004000

Definition

The distal epiphysis (rounded portion of bone at the far end of the radius distal to the growth plate) has an abnormal cone-shaped appearance. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCone-shaped distal radial epiphysis

Conditions with this feature

X-linked spondyloepimetaphyseal dysplasia
MedGen UID:
376281
•Concept ID:
C1848097
•
Disease or Syndrome
A rare genetic primary bone dysplasia disorder with characteristics of disproportionate short stature with mesomelic short limbs, leg bowing, lumbar lordosis, brachydactyly, joint laxity and a waddling gait. Radiographs show platyspondyly with central protrusion of anterior vertebral bodies, kyphotic angulation and very short long bones with dysplastic epiphyses and flared, irregular, cupped metaphyses.
See: Condition Record
X-linked spondyloepimetaphyseal dysplasia

Recent clinical studies

Diagnosis

Acrocapitofemoral dysplasia: Novel mutation in IHH in two adult patients from the third family in the literature and progression of the disease.
Ozyavuz Cubuk P, Duz MB
Eur J Med Genet 2021 Nov;64(11):104343. Epub 2021 Sep 14 doi: 10.1016/j.ejmg.2021.104343. PMID: 34530144

Prognosis

Acrocapitofemoral dysplasia: Novel mutation in IHH in two adult patients from the third family in the literature and progression of the disease.
Ozyavuz Cubuk P, Duz MB
Eur J Med Genet 2021 Nov;64(11):104343. Epub 2021 Sep 14 doi: 10.1016/j.ejmg.2021.104343. PMID: 34530144

Clinical prediction guides

Acrocapitofemoral dysplasia: Novel mutation in IHH in two adult patients from the third family in the literature and progression of the disease.
Ozyavuz Cubuk P, Duz MB
Eur J Med Genet 2021 Nov;64(11):104343. Epub 2021 Sep 14 doi: 10.1016/j.ejmg.2021.104343. PMID: 34530144

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