Phenotypes associated with the disease CLOVES syndrome (OMIM:612918):
- Congenital onset (HP:0003577): A phenotypic abnormality that is present at birth. Evidence: PCS. Frequency: 6/6. (PMID:22658544)
- Scoliosis (HP:0002650): The presence of an abnormal lateral curvature of the spine. Evidence: PCS. Frequency: 4/6. (PMID:22658544)
- Tethered cord (HP:0002144): During normal embryological development, the spinal cord first occupies the entire length of the vertebral column but goes on to assume a position at the level of L1 due to differential growth of the conus medullaris and the vertebral column. The filum terminale is a slender, threadlike structure that remains after the normal regression of the distal embryonic spinal cord and attaches the spinal cord to the coccyx. A tethered cord results if there is a thickened rope-like filum terminale which anchors the cord at the level of L2 or below, potentially causing neurologic signs owing to abnormal tension on the spinal cord. Evidence: TAS. Frequency: Occasional (HP:0040283). (OMIM:612918)
- Renal hypoplasia (HP:0000089): Hypoplasia of the kidney. Evidence: PCS. Frequency: 2/6. (PMID:22658544)
- Typified by somatic mosaicism (HP:0001442): Description of conditions in which affected individuals typically display somatic mosaicism, i.e., genetically distinct populations of somatic cells in a given organism caused by DNA mutations, epigenetic alterations of DNA, chromosomal abnormalities or the spontaneous reversion of inherited mutations. In many conditions typified by somatic mosaicism, constitutive mutation is lethal and cases are exclusively or predominantly mosaic. Evidence: PCS. (PMID:22658544)
- Capillary malformation (HP:0025104): A capillary malformation is a flat, sharply defined vascular stain of the skin. It may cover a large surface area or it may be scattered and appear as little islands of color. In a capillary maformation, the predominant vessels are small, slow-flow vessels (i.e., arterioles and postcapillary venules). Evidence: PCS. Frequency: 4/4. (PMID:22658544)
- Macrodactyly (HP:0004099): 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. Evidence: PCS. Frequency: 5/6. (PMID:22658544)
- Spinal dysraphism (HP:0010301): A heterogeneous group of congenital spinal anomalies that result from defective closure of the neural tube early in fetal life. Evidence: TAS. Frequency: Occasional (HP:0040283). (OMIM:612918)
- Venous malformation (HP:0012721): 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. Evidence: PCS. Frequency: 6/6. (PMID:22658544)
- Lipoma (HP:0012032): Benign neoplasia derived from lipoblasts or lipocytes of white or brown fat. May be angiomatous or hibernomatous. Evidence: PCS. Frequency: 6/6. (PMID:22658544)
- Lower limb asymmetry (HP:0100559): A difference in length or diameter between the left and right leg. Evidence: PCS. Frequency: 5/5. (PMID:22658544)
- Overgrowth (HP:0001548): Excessive postnatal growth which may comprise increased weight, increased length, and/or increased head circumference. Evidence: TAS. Onset: Congenital onset (HP:0003577). (OMIM:612918)
- Abnormal cardiovascular system morphology (HP:0030680): Any structural anomaly of the heart and blood vessels. Evidence: TAS. (OMIM:612918)
- Hemihypertrophy (HP:0001528): Overgrowth of only one side of the body. Evidence: TAS. Frequency: Obligate (HP:0040280). (OMIM:612918)
- Sandal gap (HP:0001852): A widely spaced gap between the first toe (the great toe) and the second toe. Evidence: PCS. Frequency: 4/6. (PMID:22658544)
- Sporadic (HP:0003745): 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. Evidence: TAS. (OMIM:612918)
- Nephroblastoma (HP:0002667): The presence of a nephroblastoma, which is a neoplasm of the kidney that primarily affects children. Evidence: PCS. Frequency: 1/6. (PMID:22658544)
- Webbed neck (HP:0000465): Pterygium colli is a congenital skin fold that runs along the sides of the neck down to the shoulders. It involves an ectopic fibrotic facial band superficial to the trapezius muscle. Excess hair-bearing skin is also present and extends down the cervical region well beyond the normal hairline. Evidence: PCS. Frequency: 1/6. (PMID:22658544)
- Cranial hyperostosis (HP:0004437): Excessive growth of the bones of cranium, i.e., of the skull. Evidence: TAS. (OMIM:612918)
- Splenomegaly (HP:0001744): Abnormal increased size of the spleen. Evidence: PCS. Frequency: 1/6. (PMID:22658544)
- Facial asymmetry (HP:0000324): An abnormal difference between the left and right sides of the face. Evidence: TAS. (OMIM:612918)