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CLOVES syndrome

ORPHA140944
Synonym(s) Congenital lipomatous overgrowth-vascular malformation-epidermal nevi-skeletal anomaly syndrome
Congenital lipomatous overgrowth-vascular malformation-epidermal nevi-spinal anomaly syndrome
Prevalence <1 / 1 000 000
Inheritance Not applicable
Age of onset Infancy
Neonatal
ICD-10
  • Q87.3
OMIM
UMLS -
MeSH -
MedDRA -

Summary

Disease definition

CLOVE syndrome is characterized by Congenital Lipomatous Overgrowth, progressive, complex and mixed truncal Vascular malformations, and Epidermal nevi.

Epidemiology

To date, less than 15 cases have been reported in the literature.

Clinical description

Patients also present with disproportionate fat distribution. CLOVE syndrome may be associated with varying degrees of scoliosis and enlarged bony structures without progressive bony overgrowth. The presence of scoliosis/skeletal manifestations has lead to the suggestion that the acronym CLOVE should be expanded to CLOVES. In contrast to the bony distortion characteristic of Proteus syndrome (see this term), distortion in CLOVE syndrome occurs only following major surgery. Cranial asymmetry and central nervous system manifestations (generalized seizures, hemimegalencephaly, dysgenesis of the corpus callosum and neuronal migration defects) have been reported occasionally.

Etiology

The etiology is unknown.

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Detailed information

Review article
Clinical genetics review
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