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Upper limb peromelia

MedGen UID:: 869770
•Concept ID:: C4024199
•: Congenital Abnormality

HPO:	HP:0009814

Definition

Peromelia affecting only the upper limbs. That is, the distal parts of the arm are missing leading to stump formation. [from HPO]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVUpper limb peromelia

Phenotypic abnormality
- Abnormality of limbs
  - Aplasia/hypoplasia of the extremities
    - Peromelia
      - Upper limb peromelia

Recent clinical studies

Etiology

A case of severe dysmelia of all extremities.

Visnovsky J, Biringer K, Dokus K
Fetal Pediatr Pathol 2011;30(6):375-9. Epub 2011 Aug 24 doi: 10.3109/15513815.2011.587496. PMID: 21864119

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