U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Lower limb peromelia

MedGen UID:
869767
Concept ID:
C4024196
Anatomical Abnormality
HPO: HP:0009820

Definition

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

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVLower limb peromelia

Conditions with this feature

Acheiropodia
MedGen UID:
120547
Concept ID:
C0265559
Congenital Abnormality
Acheiropody is characterized by bilateral congenital amputations of the upper and lower extremities and aplasia of the hands and feet. Specific patterns of malformations consist of a complete amputation of the distal epiphysis of the humerus, amputation of the distal part of the tibial diaphysis, and aplasia of the radius, ulna, fibula, and of the carpal, metacarpal, tarsal, metatarsal, and phalangeal bones (summary by Ianakiev et al., 2001).

Recent clinical studies

Etiology

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
Lenz W, Zygulska M, Horst J
Hum Genet 1993 May;91(4):347-56. doi: 10.1007/BF00217355. PMID: 8500790

Diagnosis

Mollica F, Mazzone D, Cimino G, Opitz JM
Am J Med Genet 1995 Mar 27;56(2):168-72. doi: 10.1002/ajmg.1320560211. PMID: 7625440

Prognosis

Mollica F, Mazzone D, Cimino G, Opitz JM
Am J Med Genet 1995 Mar 27;56(2):168-72. doi: 10.1002/ajmg.1320560211. PMID: 7625440

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...