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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

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVLower limb peromelia

Phenotypic abnormality
- Abnormality of limbs
  - Aplasia/hypoplasia of the extremities
    - Peromelia
      - Lower 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).

See: Condition Record

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

FFU complex: an analysis of 491 cases.

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

Diagnosis

Severe case of Al Awadi/Raas-Rothschild syndrome or new, possibly autosomal recessive facio-skeleto-genital syndrome.

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

Severe case of Al Awadi/Raas-Rothschild syndrome or new, possibly autosomal recessive facio-skeleto-genital syndrome.

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

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Lower limb peromelia
Lower limb peromelia

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Upper-limb metaphyseal irregularity
Upper-limb metaphyseal irregularity

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Positional foot deformity
Positional foot deformity

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Duplication of bones involving the upper extremities
Duplication of bones involving the upper extremities

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Short metatarsal
Short metatarsal

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