Phenotypes associated with the disease Ectodermal dysplasia-skin fragility syndrome (ORPHA:158668):
- Palmoplantar keratoderma (HP:0000982): Abnormal thickening of the skin of the palms of the hands and the soles of the feet. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:158668)
- Fragile skin (HP:0001030): Skin that splits easily with minimal injury. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:158668)
- 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:158668)
- Hypohidrosis (HP:0000966): Abnormally diminished capacity to sweat. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:158668)
- Gait disturbance (HP:0001288): The term gait disturbance can refer to any disruption of the ability to walk. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:158668)
- 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:158668)
- Alopecia universalis (HP:0002289): Loss of all hair on the entire body. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:158668)
- Sparse hair (HP:0008070): Reduced density of hairs. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:158668)
- Chapped lip (HP:0040181): Cracking, fissuring, and peeling of the skin of the lips. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:158668)
- Scaling skin (HP:0040189): Refers to the loss of the outer layer of the epidermis in large, scale-like flakes. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:158668)
- Abnormality of the dentition (HP:0000164): Any abnormality of the teeth. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:158668)
- Carious teeth (HP:0000670): Caries is a multifactorial bacterial infection affecting the structure of the tooth. This term has been used to describe the presence of more than expected dental caries. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:158668)
- Pruritus (HP:0000989): Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased disposition to experience pruritus. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:158668)
- Recurrent skin infections (HP:0001581): Infections of the skin that happen multiple times. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:158668)
- Chronic diarrhea (HP:0002028): The presence of chronic diarrhea, which is usually taken to mean diarrhea that has persisted for over 4 weeks. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:158668)
- 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:158668)
- Anoperineal fistula (HP:0005218): The presence of a fistula (abnormal tunnel) between the anal canal and the perineum. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:158668)
- Abnormal dental morphology (HP:0006482): An abnormality of the morphology of the tooth. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:158668)
- Recurrent pneumonia (HP:0006532): An increased susceptibility to pneumonia as manifested by a history of recurrent episodes of pneumonia. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:158668)
- Follicular hyperkeratosis (HP:0007502): A skin condition characterized by excessive development of keratin in hair follicles, resulting in rough, cone-shaped, elevated papules resulting from closure of hair follicles with a white plug of sebum. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:158668)
- 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: Occasional (HP:0040283). (ORPHA:158668)
- Urethral stricture (HP:0012227): Narrowing of the urethra associated with inflammation or scar tissue. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:158668)
- Abnormal tongue morphology (HP:0030809): Any structural anomaly of the tongue. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:158668)
- Scarring (HP:0100699): A scar refers to a lesion in which wound, burn, or sore has not healed completely and fibrous connective tissue has developed. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:158668)
- Sepsis (HP:0100806): Sepsis is defined as life-threatening organ dysfunction caused by a dysregulated host response to infection. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:158668)
- Cheilitis (HP:0100825): Inflammation of the lip. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:158668)