Lower limb phocomelia

MedGen UID:: 82718
•Concept ID:: C0265625
•: Congenital Abnormality

Synonyms:	Phocomelia of lower limb; Phocomelia of Lower Limb; Phocomelia of the lower limb; Phocomelia of the Lower Limb
SNOMED CT:	Phocomelia of the lower limb (253963009); Phocomelia of lower limb (253963009)

HPO:	HP:0009819

Definition

Phocomelia affecting only the lower limbs. [from HPO]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVLower limb phocomelia

Abnormality of the musculoskeletal system
- Abnormality of the skeletal system
  - Abnormal skeletal morphology
    - Abnormal appendicular skeleton morphology
      - Abnormal long bone morphology
        Phocomelia
        Lower limb phocomelia

Professional guidelines

PubMed

Proximal Femoral Focal Deficiency/Congenital Femoral Deficiency: Evaluation and Management.

Nossov SB, Hollin IL, Phillips J, Franklin CC
J Am Acad Orthop Surg 2022 Jul 1;30(13):e899-e910. Epub 2022 Apr 28 doi: 10.5435/JAAOS-D-21-01186. PMID: 35486897

Prenatal diagnosis of sirenomelia.

Sirtori M, Ghidini A, Romero R, Hobbins JC
J Ultrasound Med 1989 Feb;8(2):83-8. doi: 10.7863/jum.1989.8.2.83. PMID: 2651695

Review of the treatment of thalidomide children with limb defeciency in Great Britain.

Fletcher I
Clin Orthop Relat Res 1980 May;(148):18-25. PMID: 6991189

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