- Joint hypermobility (HP:0001382): The capability that a joint (or a group of joints) has to move, passively and/or actively, beyond normal limits along physiological axes. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2907)
- Gingivitis (HP:0000230): Inflammation of the gingiva. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2907)
- Thin skin (HP:0000963): Reduction in thickness of the skin, generally associated with a loss of suppleness and elasticity of the skin. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2907)
- Eczematoid dermatitis (HP:0000964): Eczema is a form of dermatitis that is characterized by scaly, pruritic, erythematous lesions located on flexural surfaces. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2907)
- Urticaria (HP:0001025): Raised, well-circumscribed areas of erythema and edema involving the dermis and epidermis. Urticaria is intensely pruritic, and blanches completely with pressure. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2907)
- Hypopigmented skin patches (HP:0001053). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2907)
- Dystrophic toenail (HP:0001810): Toenail changes apart from changes of the color of the toenail (nail dyschromia) that involve partial or complete disruption of the various keratinous layers of the nail plate. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2907)
- Premature loss of primary teeth (HP:0006323): Loss of the primary (also known as deciduous) teeth before the usual age. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2907)
- Irregular hyperpigmentation (HP:0007400). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2907)
- Ichthyosis (HP:0008064): An abnormality of the skin characterized the presence of excessive amounts of dry surface scales on the skin resulting from an abnormality of keratinization. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2907)
- Abnormal blistering of the skin (HP:0008066): The presence of one or more bullae on the skin, defined as fluid-filled blisters more than 5 mm in diameter with thin walls. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2907)
- Dystrophic fingernails (HP:0008391): The presence of misshapen or partially destroyed nail plates, often with accumulation of soft, yellow keratin between the dystrophic nail plate and nail bed, resulting in elevation of the nail plate. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2907)
- Nail dystrophy (HP:0008404): Onychodystrophy (nail dystrophy) refers to nail changes apart from changes of the color (nail dyschromia) and involves partial or complete disruption of the various keratinous layers of the nail plate. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2907)
- Erythema (HP:0010783): Redness of the skin, caused by hyperemia of the capillaries in the lower layers of the skin. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2907)
- 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:2907)
- Papule (HP:0200034): A circumscribed, solid elevation of skin with no visible fluid, varying in size from a pinhead to less than 10mm in diameter at the widest point. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2907)
- Pustule (HP:0200039): A small elevation of the skin containing cloudy or purulent material usually consisting of necrotic inflammatory cells. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2907)
- Narrow mouth (HP:0000160): Distance between the commissures of the mouth more than 2 SD below the mean. Alternatively, an apparently decreased width of the oral aperture (subjective). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2907)
- Abnormality of the dentition (HP:0000164): Any abnormality of the teeth. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2907)
- Xerostomia (HP:0000217): Dryness of the mouth due to salivary gland dysfunction. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2907)
- Gingival bleeding (HP:0000225): Hemorrhage affecting the gingiva. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2907)
- Turricephaly (HP:0000262): Tall head relative to width and length. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2907)
- Abnormal skull morphology (HP:0000929): An abnormality of the skull, the bony framework of the head which is comprised of the neurocranium (with eight cranial bones) and the viscerocranium (facial skeleton) that comprises fourteen facial bones with the mandible as its largest bone. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2907)
- Palmoplantar hyperkeratosis (HP:0000972): Abnormal thickening of the skin localized to the palm of the hand and the sole of the foot. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2907)
- Oral leukoplakia (HP:0002745): A thickened white patch on the oral mucosa that cannot be rubbed off. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2907)
- Ankyloglossia (HP:0010296): Short or anteriorly attached lingual frenulum, associated with limited mobility of the tongue. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2907)
- Abnormal preputium morphology (HP:0100587): An abnormality of the retractable fold of skin that covers the tip of the penis. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2907)
- Abnormal pigmentation of the oral mucosa (HP:0100669): An abnormality of the pigmentation of the mucosa of the mouth. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2907)
- Skin ulcer (HP:0200042): A discontinuity of the skin exhibiting complete loss of the epidermis and often portions of the dermis and even subcutaneous fat. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2907)
- Abnormal renal tubule morphology (HP:0000091): An abnormality of the renal tubules. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2907)
- Trismus (HP:0000211): Limitation in the ability to open the mouth. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2907)
- Hearing impairment (HP:0000365): A decreased magnitude of the sensory perception of sound. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2907)
- Ectropion (HP:0000656): An outward turning (eversion) or rotation of the eyelid margin. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2907)
- Abnormal rib morphology (HP:0000772): An anomaly of the rib. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2907)
- Abnormality of the urethra (HP:0000795): An abnormality of the urethra, i.e., of the tube which connects the urinary bladder to the outside of the body. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2907)
- Abnormality of the skeletal system (HP:0000924): An abnormality of the skeletal system. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2907)
- Keratoconjunctivitis (HP:0001096): Inflammation of the cornea and conjunctiva. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2907)
- Squamous cell carcinoma (HP:0002860): The presence of squamous cell carcinoma of the skin. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2907)
- Abnormal hip bone morphology (HP:0003272): An abnormality of the hip bone. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2907)
- Short stature (HP:0004322): A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2907)
- Abnormal metacarpal morphology (HP:0005916): Any abnormal shape or structure of the metacarpal bones. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2907)
- Finger syndactyly (HP:0006101): Webbing or fusion of the fingers, involving soft parts only or including bone structure. Bony fusions are referred to as "bony" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers in a proximo-distal axis are referred to as "Symphalangism". Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2907)
- Transitional cell carcinoma of the bladder (HP:0006740): The presence of a carcinoma of the urinary bladder with origin in a transitional epithelial cell. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2907)
- Opacification of the corneal stroma (HP:0007759): Reduced transparency of the stroma of cornea. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2907)
- Open bite (HP:0010807): Visible space between the dental arches in occlusion. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2907)
- Abnormality of the gastrointestinal tract (HP:0011024): An abnormality of the gastrointestinal tract. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2907)
- Camptodactyly of finger (HP:0100490): The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers cannot be extended to 180 degrees by either active or passive extension. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2907)
These phenotypes are associated with the disease Hereditary acrokeratotic poikiloderma (ORPHA:2907).