- Capillary hemangioma (HP:0005306): The presence of a capillary hemangioma, which are hemangiomas with small endothelial spaces. Evidence: TAS. Frequency: Obligate (HP:0040280). (ORPHA:168984)
- Capillary malformation of the lip (HP:0031487): A vascular malformation located in the lip that is characterized by ectatic papillary dermal capillaries and postcapillary venules in the upper reticular dermis. Evidence: TAS. Frequency: Obligate (HP:0040280). (ORPHA:168984)
- Nevus flammeus (HP:0001052): A congenital vascular malformation consisting of superficial and deep dilated capillaries in the skin which produce a reddish to purplish discolouration of the skin. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:168984)
- Hemihypertrophy (HP:0001528): Overgrowth of only one side of the body. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:168984)
- Overgrowth (HP:0001548): Excessive postnatal growth which may comprise increased weight, increased length, and/or increased head circumference. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:168984)
- Lymphangioma (HP:0100764): Lymphangiomas are rare congenital malformations consisting of focal proliferations of well-differentiated lymphatic tissue in multi cystic or sponge like structures. Lymphangioma is usually asymptomatic due to its soft consistency but compression of adjacent structures can be seen due to the mass effect of a large tumor. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:168984)
- Facial asymmetry (HP:0000324): An abnormal difference between the left and right sides of the face. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:168984)
- Lymphedema (HP:0001004): Localized fluid retention and tissue swelling caused by a compromised lymphatic system. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:168984)
- Failure to thrive (HP:0001508): Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:168984)
- Varicose veins (HP:0002619): Enlarged and tortuous veins. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:168984)
- 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: TAS. Frequency: Frequent (HP:0040282). (ORPHA:168984)
- 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: Frequent (HP:0040282). (ORPHA:168984)
- Hemihypertrophy of lower limb (HP:0100553): Overgrowth of only one leg. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:168984)
- Hemihypertrophy of upper limb (HP:0100554): Overgrowth of only one arm. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:168984)
- Asymmetric growth (HP:0100555): A growth pattern that displays an abnormal difference between the left and the right side. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:168984)
- Tall stature (HP:0000098): A height above that which is expected according to age and gender norms. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:168984)
- Pectus excavatum (HP:0000767): A defect of the chest wall characterized by a depression of the sternum, giving the chest ("pectus") a caved-in ("excavatum") appearance. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:168984)
- Narrow chest (HP:0000774): Reduced width of the chest from side to side, associated with a reduced distance from the sternal notch to the tip of the shoulder. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:168984)
- Ganglioneuroma (HP:0003005): A benign neoplasm that usually arises from the sympathetic trunk in the mediastinum, representing a tumor of the sympathetic nerve fibers arising from neural crest cells. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:168984)
These phenotypes are associated with the disease CLAPO syndrome (ORPHA:168984).
The following phenotypes are NOT associated with this disease:
- Intellectual disability (HP:0001249): The term intellectual disability or intellectual developmental disorder is used to describe significantly sub-average intellectual and adaptive functioning based on clinical assessment and as measured by individually administered, appropriately normed, standardized and validated tests of intellectual functioning and adaptive behavior, with onset during the developmental period from infancy through adolescence. Evidence: TAS. (ORPHA:168984)