Total 56 clinical symptoms reported for xeroderma pigmentosum 
Abnormality of the dentition Any abnormality of the teeth.
 
Synonyms:Abnormal dentition; Abnormal teeth; Dental abnormalities; Dental abnormality; Dental anomalies
Very frequent
Arthralgia Joint pain.
 
Synonyms:Arthralgias; Joint pain
Very frequent
Cognitive impairment Abnormal cognition with deficits in thinking, reasoning, or remembering.
 
Synonyms:Abnormality of cognition; Cognitive abnormality; Cognitive defects; Cognitive deficits; Cognitive impairment; Intellectual impairment
Very frequent
Conjunctival telangiectasia The presence of small (ca. 0.5-1.0 mm) dilated blood vessels near the surface of the mucous membranes of the conjunctiva.
 
Synonyms:Conjunctival telangiectases; Small dilated blood vessels near membrane covering front of eye and eyelids; Telangiectasia, conjunctival
Very frequent
Cutaneous photosensitivity An increased sensitivity of the skin to light. Photosensitivity may result in a rash upon exposure to the sun (which is known as photodermatosis). Photosensitivity can be diagnosed by phototests in which light is shone on small areas of skin.
 
Synonyms:Photosensitive skin; Photosensitive skin rashes; Photosensitivity; Sensitivity to sunlight; Skin photosensitivity; Sun sensitivity
Very frequent
Developmental regression Loss of developmental skills, as manifested by loss of developmental milestones.
 
Synonyms:Loss of developmental milestones; Mental deterioration in childhood; Neurodevelopmental regression; Psychomotor regression; Psychomotor regression beginning in infancy; Psychomotor regression in infants; Psychomotor regression, progressive
Very frequent
Dry skin Skin characterized by the lack of natural or normal moisture.
 
Synonyms:Dry skin; Xerosis
Very frequent
Failure to thrive Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.
 
Synonyms:Faltering weight; Postnatal failure to thrive; Weight faltering
Very frequent
Fatigue A subjective feeling of tiredness characterized by a lack of energy and motivation.
 
Synonyms:Fatigue; Tired; Tiredness
Very frequent
Freckling The presence of an increased number of freckles, small circular spots on the skin that are darker than the surrounding skin because of deposits of melanin.
 
Synonyms:Freckling
Very frequent
Hypogonadism A decreased functionality of the gonad.
 
Synonyms:Decreased activity of gonads
Very frequent
Intellectual disability, progressive The term progressive intellectual disability should be used if intelligence decreases/deteriorates over time.
 
Synonyms:Intellectual disability, progressive; Mental retardation, progressive; Progressive mental retardation
Very frequent
Optic atrophy Atrophy of the optic nerve. Optic atrophy results from the death of the retinal ganglion cell axons that comprise the optic nerve and manifesting as a pale optic nerve on fundoscopy.
 
Synonyms:Optic nerve atrophy; Optic-nerve degeneration
Very frequent
Poikiloderma Poikiloderma refers to a patch of skin with (1) reticulated hypopigmentation and hyperpigmentation, (2) wrinkling secondary to epidermal atrophy, and (3) telangiectasias.
 
Very frequent
Telangiectasia Telangiectasias refer to small dilated blood vessels located near the surface of the skin or mucous membranes, measuring between 0.5 and 1 millimeter in diameter. Telangiectasia are located especially on the tongue, lips, palate, fingers, face, conjunctiva, trunk, nail beds, and fingertips.
 
Synonyms:Cutaneous telangiectasia; Telangiectases
Very frequent
Telangiectasia of the skin Presence of small, permanently dilated blood vessels near the surface of the skin, visible as small focal red lesions.
 
Synonyms:Teleangiectasia of the skin
Very frequent
Thickened skin Laminar thickening of skin.
 
Synonyms:Pachydermia; Thick skin; Thickened skin
Very frequent
Thin skin Reduction in thickness of the skin, generally associated with a loss of suppleness and elasticity of the skin.
 
Synonyms:Thin skin
Very frequent