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Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi

MedGen UID:
442876
Concept ID:
C2752042
Disease or Syndrome
Synonyms: CLOVE SYNDROME; CLOVES; CLOVES SYNDROME; CONGENITAL LIPOMATOUS OVERGROWTH, VASCULAR MALFORMATIONS, AND EPIDERMAL NEVI, SOMATIC; CONGENITAL LIPOMATOUS OVERGROWTH, VASCULAR MALFORMATIONS, EPIDERMAL NEVI, AND SKELETAL/SPINAL ABNORMALITIES; PIK3CA-Related Segmental Overgrowth
Modes of inheritance:
Sporadic
MedGen UID:
342827
Concept ID:
C1853237
Finding
Sources: HPO, OMIM
Cases of the disease in question occur without a previous family history, i.e., as isolated cases without being transmitted from a parent and without other siblings being affected.
not inherited
MedGen UID:
832438
Concept ID:
CN227390
Intellectual Product
Source: Orphanet
Describes a disorder that is not inherited.
Sporadic (HPO, OMIM)
not inherited (Orphanet)
 
Gene (location): PIK3CA (3q26.32)
OMIM®: 612918
Orphanet: ORPHA140944

Clinical features

Venous malformation
MedGen UID:
776818
Concept ID:
CN185425
Finding
A vascular malformation resulting from a developmental error of venous tissue composed of dysmorphic channels lined by flattened endothelium and exhibiting slow turnover. A venous malformation may present as a blue patch on the skin ranging to a soft blue mass. Venous malformations are easily compressible and usually swell in thewhen venous pressure increases (e.g., when held in a dependent position or when a child cries). They may be relatively localized or quite extensive within an anatomic region.
Abnormality of cardiovascular system morphology
MedGen UID:
852171
Concept ID:
CN234818
Finding
Any structural anomaly of the heart and great vessels.
Lower limb asymmetry
MedGen UID:
44089
Concept ID:
C0023221
Finding
A difference in length or diameter between the left and right leg.
Congenital macrodactylia
MedGen UID:
78564
Concept ID:
C0265552
Congenital Abnormality
Significant increase in the length and girth of most or all of a digit compared to its contralateral digit (if unaffected) or compared to what would be expected for age/body build. The increased girth is accompanied by an increase in the dorso-ventral dimension AND the lateral dimension of the digit.
Hemihypertrophy
MedGen UID:
90701
Concept ID:
C0332890
Congenital Abnormality
Overgrowth of only one side of the body.
Sandal gap
MedGen UID:
374376
Concept ID:
C1840069
Finding
A widely spaced gap between the first toe (the great toe) and the second toe.
Lower limb asymmetry
MedGen UID:
44089
Concept ID:
C0023221
Finding
A difference in length or diameter between the left and right leg.
Hemihypertrophy
MedGen UID:
90701
Concept ID:
C0332890
Congenital Abnormality
Overgrowth of only one side of the body.
Overgrowth
MedGen UID:
338768
Concept ID:
C1851731
Finding
Excessive postnatal growth which may comprise increased weight, increased length, and/or increased head circumference.
Splenomegaly
MedGen UID:
52469
Concept ID:
C0038002
Finding
Enlargement of the spleen.
Congenital macrodactylia
MedGen UID:
78564
Concept ID:
C0265552
Congenital Abnormality
Significant increase in the length and girth of most or all of a digit compared to its contralateral digit (if unaffected) or compared to what would be expected for age/body build. The increased girth is accompanied by an increase in the dorso-ventral dimension AND the lateral dimension of the digit.
Cranial hyperostosis
MedGen UID:
318629
Concept ID:
C1832451
Finding
Excessive growth of the bones of cranium, i.e., of the skull.
Sandal gap
MedGen UID:
374376
Concept ID:
C1840069
Finding
A widely spaced gap between the first toe (the great toe) and the second toe.
Cranial hyperostosis
MedGen UID:
318629
Concept ID:
C1832451
Finding
Excessive growth of the bones of cranium, i.e., of the skull.
Overgrowth
MedGen UID:
338768
Concept ID:
C1851731
Finding
Excessive postnatal growth which may comprise increased weight, increased length, and/or increased head circumference.
Lipoma
MedGen UID:
44173
Concept ID:
C0023798
Neoplastic Process
Benign neoplasia derived from lipoblasts or lipocytes of white or brown fat. May be angiomatous or hibernomatous.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCongenital lipomatous overgrowth, vascular malformations, and epidermal nevi
Follow this link to review classifications for Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi in Orphanet.

Recent clinical studies

Etiology

Hedequist D, Spencer S, Richards BS, Fishman S, Alomari A
J Pediatr Orthop 2015 Oct-Nov;35(7):682-6. doi: 10.1097/BPO.0000000000000351. PMID: 25393573

Diagnosis

Panteliades M, Silva CM, Gontijo B
An Bras Dermatol 2016 May-Jun;91(3):378-80. doi: 10.1590/abd1806-4841.20165897. PMID: 27438212Free PMC Article
Vahidnezhad H, Youssefian L, Uitto J
Exp Dermatol 2016 Jan;25(1):17-9. Epub 2015 Oct 13 doi: 10.1111/exd.12826. PMID: 26268729
Kang HC, Baek ST, Song S, Gleeson JG
J Pediatr 2015 Nov;167(5):957-62. Epub 2015 Sep 1 doi: 10.1016/j.jpeds.2015.07.049. PMID: 26340871
Uller W, Fishman SJ, Alomari AI
Semin Pediatr Surg 2014 Aug;23(4):208-15. Epub 2014 Jun 19 doi: 10.1053/j.sempedsurg.2014.06.013. PMID: 25241100
Sapp JC, Turner JT, van de Kamp JM, van Dijk FS, Lowry RB, Biesecker LG
Am J Med Genet A 2007 Dec 15;143A(24):2944-58. doi: 10.1002/ajmg.a.32023. PMID: 17963221

Prognosis

Erickson RP
Curr Opin Genet Dev 2014 Jun;26:73-8. Epub 2014 Jul 20 doi: 10.1016/j.gde.2014.06.001. PMID: 25050467
Bloom J, Upton J 3rd
J Hand Surg Am 2013 Dec;38(12):2508-12. Epub 2013 Oct 23 doi: 10.1016/j.jhsa.2013.08.120. PMID: 24161472

Clinical prediction guides

Vahidnezhad H, Youssefian L, Uitto J
Exp Dermatol 2016 Jan;25(1):17-9. Epub 2015 Oct 13 doi: 10.1111/exd.12826. PMID: 26268729
Erickson RP
Curr Opin Genet Dev 2014 Jun;26:73-8. Epub 2014 Jul 20 doi: 10.1016/j.gde.2014.06.001. PMID: 25050467

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