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Inverse Klippel-Trenaunay syndrome

MedGen UID:
1830088
Concept ID:
C5679859
Disease or Syndrome
Synonyms: Cutaneous hemangioma with muscle or bone atrophy; cutaneous hemangioma with muscle or bone atrophy; Inverse Klippel Trénaunay syndrome; inverse Klippel-Trenaunay syndrome; inverse Klippel-Trénaunay syndrome; Inverse Klippel-Trénaunay syndrome
SNOMED CT: Inverse Klippel Trénaunay syndrome (1285323003)
Modes of inheritance:
Unknown inheritance
MedGen UID:
989040
Concept ID:
CN307042
Finding
Source: Orphanet
Hereditary clinical entity whose mode of inheritance is unknown.
 
Monarch Initiative: MONDO:0018001
Orphanet: ORPHA329324

Definition

A rare vascular anomaly with the association of capillary and venous malformations with hypotrophy or shortening of an affected limb due to alterations in bones, muscles, or subcutaneous tissues. In most cases, at least one of the findings is noted shortly after birth, while the other components become evident later in infancy. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVInverse Klippel-Trenaunay syndrome

Recent clinical studies

Diagnosis

Santino MFF, Lopes MJP
Rev Paul Pediatr 2020;38:e2020091. Epub 2020 Dec 18 doi: 10.1590/1984-0462/2020/38/2020091. PMID: 33331597Free PMC Article
Ruggieri M, Pavone V, Polizzi A, Falsaperla R, Fichera M, Pavone P
Am J Med Genet A 2014 May;164A(5):1262-7. Epub 2014 Jan 29 doi: 10.1002/ajmg.a.36414. PMID: 24478251
Queirós G, Diamantino F, Lopes MJ
BMJ Case Rep 2013 Apr 16;2013 doi: 10.1136/bcr-2013-009188. PMID: 23595189Free PMC Article
Cappuccio G, Brunetti-Pierri N
Eur J Med Genet 2012 Dec;55(12):705-7. Epub 2012 Aug 31 doi: 10.1016/j.ejmg.2012.08.006. PMID: 23000147

Clinical prediction guides

Danarti R, König A, Bittar M, Happle R
Dermatology 2007;214(2):130-2. doi: 10.1159/000098571. PMID: 17341861

Supplemental Content

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