Phenotypes associated with the disease Segmental venous malformation (ORPHA:217008):
- Prominent superficial veins (HP:0001015): A condition in which superficial veins (i.e., veins just under the skin) are more conspicuous or noticeable than normal. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:217008)
- Hemihypertrophy (HP:0001528): Overgrowth of only one side of the body. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:217008)
- Aplasia/hypoplasia involving bones of the upper limbs (HP:0006496): Absence (due to failure to form) or underdevelopment of the bones of the upper limbs. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:217008)
- 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: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:217008)
- 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: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:217008)
- Abnormality of limbs (HP:0040064). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:217008)
- Asymmetric growth (HP:0100555): A growth pattern that displays an abnormal difference between the left and the right side. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:217008)
- Telangiectasia of the skin (HP:0100585): Presence of small, permanently dilated blood vessels near the surface of the skin, visible as small focal red lesions. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:217008)
- Edema (HP:0000969): An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:217008)
- Thin bony cortex (HP:0002753): Abnormal thinning of the cortical region of bones. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:217008)
- Hypoplasia of the radius (HP:0002984): Underdevelopment of the radius. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:217008)
- Hypoplasia of the ulna (HP:0003022): Underdevelopment of the ulna. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:217008)
- Venous thrombosis (HP:0004936): Formation of a blood clot (thrombus) inside a vein, causing the obstruction of blood flow. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:217008)
- Short humerus (HP:0005792): Underdevelopment of the humerus. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:217008)
- Hypertrophy of the upper limb (HP:0010484): Abnormal increase in size of the upper limbs (due to an increase of the size of cells). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:217008)
- Abnormal muscle physiology (HP:0011804): A functional abnormality of a skeletal muscle. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:217008)
- Abnormal trabecular bone morphology (HP:0100671): Abnormal structure or form of trabecular bone. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:217008)
- Abnormality of the hand (HP:0001155): An abnormality affecting one or both hands. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:217008)
- Abnormal foot morphology (HP:0001760): An abnormality of the skeleton of foot. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:217008)
- Paresthesia (HP:0003401): Abnormal sensations such as tingling, pricking, or numbness of the skin with no apparent physical cause. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:217008)
- Upper limb undergrowth (HP:0009824): Arm shortening because of underdevelopment of one or more bones of the upper extremity. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:217008)