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CLOVES syndrome
Disease definition
CLOVE syndrome is characterized by Congenital Lipomatous Overgrowth, progressive, complex and mixed truncal Vascular malformations, and Epidermal nevi.
ORPHA:140944
Classification level: Disorder- 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
- ICD-11: LD2C
- OMIM: 612918
- UMLS: C2752042
- MeSH: C567863
- GARD: 10939
- MedDRA: -
Summary
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.
A summary on this disease is available in Italiano (2010) Deutsch (2009) Español (2009) Français (2009) Nederlands (2009)
Detailed information
Guidelines
- Clinical practice guidelines
- Français (2020) - PNDS
Disease review articles
- Review article
- Español (2010, pdf) - ECEMC
- Clinical genetics review
- English (2022) - GeneReviews
produced/endorsed by ERN(s) produced/endorsed by FSMR(s)Additional information