Upper-limb metaphyseal irregularity

MedGen UID:: 867356
•Concept ID:: C4021720
•: Finding

Synonyms:	Irregular metaphyses of the upper limbs; Irregular wide portion of upper limb bones

HPO:	HP:0003850

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVUpper-limb metaphyseal irregularity

Phenotypic abnormality
- Abnormality of limbs
  - Abnormality of the upper limb
    - Abnormal upper limb metaphysis morphology
      - Upper-limb metaphyseal irregularity

Conditions with this feature

Spondyloepimetaphyseal dysplasia, Isidor-Toutain type

MedGen UID:: 1684771
•Concept ID:: C5231478
•: Disease or Syndrome

The Isidor-Toutain type of spondyloepimetaphyseal dysplasia (SEMDIST) is characterized by normal birth length, early postnatal growth deficiency, severe short stature, and genu varum. Skeletal radiographs show platyspondyly and severe epiphyseal and metaphyseal changes in the lower limbs (Le Caignec et al., 2019).

See: Condition Record

Spondyloepimetaphyseal dysplasia, Isidor-Toutain type