CLOVE syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: CONGENITAL LIPOMATOUS OVERGROWTH, VASCULAR MALFORMATIONS, EPIDERMAL NEVI, AND SKELETAL/SPINAL ABNORMALITIES
CLOVES SYNDROME
CLOVE SYNDROME
Congenital lipomatous overgrowth - vascular malformation - epidermal nevi
Number of Symptoms 50
OrphanetNr: 140944
OMIM Id: 612918
ICD-10: Q87.3
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Not applicable
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Complex - combined vascular malformation
 -Rare circulatory system disease
 -Rare developmental defect during embryogenesis
Genetic skin tumor
 -Rare genetic disease
Genetic subcutaneous tissue disease
 -Rare genetic disease
Rare nevus
 -Rare oncologic disease
 -Rare skin disease
Subcutaneous tissue disease
 -Rare skin disease

Symptom Information: Sort by abundance 

1
 (HPO:0008678) Renal hypoplasia/aplasia rare [HPO:skoehler] 127 / 7739
2
 (HPO:0004437) Cranial hyperostosis 55 / 7739
3
 (HPO:0000324) Facial asymmetry 57 / 7739
4
 (HPO:0005021) Bilateral elbow dislocations 24 / 7739
5
 (HPO:0003042) Elbow dislocation 89 / 7739
6
 (HPO:0002999) Patellar dislocation 46 / 7739
7
 (HPO:0003179) Protrusio acetabuli 37 / 7739
8
 (HPO:0100747) Macrodactyly of toe 1 / 7739
9
 (HPO:0012095) Multiple joint dislocation 24 / 7739
10
 (HPO:0004099) Macrodactyly 5 / 7739
11
 (HPO:0010301) Spinal dysraphism rare [HPO:skoehler] 14 / 7739
12
 (HPO:0100559) Lower limb asymmetry rare [HPO:skoehler] 30 / 7739
13
 (HPO:0100746) Macrodactyly of finger 5 / 7739
14
 (HPO:0003994) Dislocated wrist 24 / 7739
15
 (HPO:0001373) Joint dislocation 59 / 7739
16
 (HPO:0003834) Shoulder dislocation 28 / 7739
17
 (HPO:0002827) Hip dislocation 94 / 7739
18
 (HPO:0002650) Scoliosis rare [HPO:skoehler] 705 / 7739
19
 (HPO:0001528) Hemihypertrophy obligate [HPO:skoehler] 13 / 7739
20
 (HPO:0001852) Sandal gap 63 / 7739
21
 (HPO:0001744) Splenomegaly 337 / 7739
22
 (HPO:0001548) Overgrowth 27 / 7739
23
 (HPO:0012032) Lipoma common [HPO:skoehler] 10 / 7739
24
 (OMIM) Perispinal vascular malformations, high-flow (in some patients) 1 / 7739
25
 (OMIM) Chondromalacia patellae (rare) 1 / 7739
26
 (OMIM) Windswept hand (rare) 1 / 7739
27
 (OMIM) Wide sandal gap 2 / 7739
28
 (OMIM) Palmar overgrowth 1 / 7739
29
 (OMIM) Plantar overgrowth 1 / 7739
30
 (MedDRA:10025532) Malformation venous 1 / 7739
31
 (HPO:0030680) Abnormality of cardiovascular system morphology 355 / 7739
32
 (OMIM) Wide feet 3 / 7739
33
 (OMIM) Capillary malformation 1 / 7739
34
 (OMIM) Hyperostosis of the skull 1 / 7739
35
 (OMIM) Wide hands (most cases) 1 / 7739
36
 (OMIM) Lymphatic malformation (low flow) (most cases) 1 / 7739
37
 (OMIM) Multiple small nevi (rare) 1 / 7739
38
 (OMIM) Talipes deformities 2 / 7739
39
 (OMIM) Spasticity/paresis (rare) 1 / 7739
40
 (OMIM) Cysts in spleen 1 / 7739
41
 (OMIM) Vascular (arteriovenous) malformation, progressive, with cutaneous involvement 1 / 7739
42
 (OMIM) Lipohypoplasia, regional 1 / 7739
43
 (OMIM) Venous thrombosis/embolism (rare) 1 / 7739
44
 (OMIM) Megaspondylodysplasia 1 / 7739
45
 (OMIM) Prenatal overgrowth 1 / 7739
46
 (OMIM) Lipomas or lipomatous masses (most cases) 1 / 7739
47
 (HPO:0002144) Tethered cord rare [HPO:skoehler] 8 / 7739
48
 (MedDRA:10048872) Testicular cyst 1 / 7739
49
 (OMIM) Furrowed sole 1 / 7739
50
 (OMIM) Linear epidermal nevus (in some patients) 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Sapp et al. (2007) described 7 patients with an apparently distinct overgrowth syndrome with only some similarities to Proteus syndrome (176920). All 7 patients had progressive, complex, and mixed primarily truncal vascular malformations, dysregulated adipose tissue, varying degrees ...
Molecular genetics OMIM Kurek et al. (2012) used massively parallel sequencing to search for somatic mosaic mutations in fresh, frozen, or fixed archival tissue from 6 patients with CLOVE syndrome and identified 3 different missense mutations in the PIK3CA gene (171834.0001, ...