Phenotypes associated with the disease Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form (ORPHA:89842):
- Atypical scarring of skin (HP:0000987): Atypically scarred skin . Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:89842)
- Fragile skin (HP:0001030): Skin that splits easily with minimal injury. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:89842)
- Growth delay (HP:0001510): A deficiency or slowing down of growth pre- and postnatally. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:89842)
- Anemia (HP:0001903): A reduction in erythrocytes volume or hemoglobin concentration. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:89842)
- Decreased body weight (HP:0004325): Abnormally low body weight. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:89842)
- 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:89842)
- Abnormal circulating selenium concentration (HP:0031903): Any deviation from the normal circulating concentration of selenium. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:89842)
- 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: Frequent (HP:0040282). (ORPHA:89842)
- Milia (HP:0001056): Presence of multiple small cysts containing keratin (skin protein) and presenting as tiny pearly-white bumps just under the surface of the skin. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:89842)
- 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:89842)
- Recurrent skin infections (HP:0001581): Infections of the skin that happen multiple times. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:89842)
- Dysphagia (HP:0002015): Difficulty in swallowing. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:89842)
- Constipation (HP:0002019): Infrequent or difficult evacuation of feces. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:89842)
- Gastroesophageal reflux (HP:0002020): A condition in which the stomach contents leak backwards from the stomach into the esophagus through the lower esophageal sphincter. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:89842)
- Abnormal esophagus morphology (HP:0002031): A structural abnormality of the esophagus. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:89842)
- Esophageal stricture (HP:0002043): A pathological narrowing of the esophagus that is caused by the development of a ring of scar tissue that constricts the esophageal lumen. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:89842)
- Hypoalbuminemia (HP:0003073): The concentration of albumin in the blood circulation is below the lower limit of normal. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:89842)
- Skeletal muscle atrophy (HP:0003202): The presence of skeletal muscular atrophy (which is also known as amyotrophy). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:89842)
- Decreased circulating carnitine concentration (HP:0003234): Concentration of carnitine in the blood circulation below the lower limit of normal. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:89842)
- Malnutrition (HP:0004395): A deficiency in the intake of energy and nutrients. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:89842)
- Irregular hyperpigmentation (HP:0007400). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:89842)
- Esophageal stenosis (HP:0010450): An abnormal narrowing of the lumen of the esophagus. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:89842)
- Feeding difficulties (HP:0011968): Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:89842)
- Decreased serum zinc (HP:0031831): A reduced concentration of zinc in the blood. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:89842)
- Chronic cutaneous wound (HP:0032676): A cutaneous wound that has failed to proceed through the orderly and timely process to produce an atomic and functional integrity, or proceeded through the repair process without establishing a sustained anatomic and functional result. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:89842)
- Decreased circulating iron concentration (HP:0040303): The concentration of iron cation in the blood circulation is below the lower limit of normal. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:89842)
- Decreased circulating vitamin D concentration (HP:0100512): The concentration of vitamin D in the blood circulation is below the lower limit of normal. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:89842)
- Skin erosion (HP:0200041): A discontinuity of the skin exhibiting incomplete loss of the epidermis, a lesion that is moist, circumscribed, and usually depressed. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:89842)
- 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: Occasional (HP:0040283). (ORPHA:89842)
- Visual loss (HP:0000572): Loss of visual acuity (implying that vision was better at a certain time point in life). Otherwise the term reduced visual acuity should be used (or a subclass of that). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:89842)
- Depression (HP:0000716): Frequently experiencing feelings of being down, miserable, and/or hopeless; struggling to recover from these moods; having a pessimistic outlook on the future; feeling a pervasive sense of shame; having a low self-worth; experiencing thoughts of suicide and engaging in suicidal behavior. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:89842)
- Anxiety (HP:0000739): Intense feelings of nervousness, tension, or panic often arise in response to interpersonal stresses. There is worry about the negative effects of past unpleasant experiences and future negative possibilities. Individuals may feel fearful, apprehensive, or threatened by uncertainty, and they may also have fears of falling apart or losing control. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:89842)
- Delayed puberty (HP:0000823): Passing the age when puberty normally occurs with no physical or hormonal signs of the onset of puberty. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:89842)
- Aplasia cutis congenita (HP:0001057): A developmental defect resulting in the congenital absence of skin in multiple or solitary non-inflammatory, well-demarcated, oval or circular ulcers with a diameter of about 1 to 2 cm. Aplasia cutis congenita most commonly occurs on the scalp, but may present in the face, trunk, or limbs. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:89842)
- Flexion contracture (HP:0001371): A flexion contracture is a bent (flexed) joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:89842)
- Dilated cardiomyopathy (HP:0001644): Dilated cardiomyopathy (DCM) is defined by the presence of left ventricular dilatation and left ventricular systolic dysfunction in the absence of abnormal loading conditions (hypertension, valve disease) or coronary artery disease sufficient to cause global systolic impairment. Right ventricular dilation and dysfunction may be present but are not necessary for the diagnosis. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:89842)
- Anonychia (HP:0001798): Aplasia of the nail. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:89842)
- Absent toenail (HP:0001802): Congenital absence of the toenail. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:89842)
- Nail dysplasia (HP:0002164): The presence of developmental dysplasia of the nail. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:89842)
- Nevus (HP:0003764): A nevus is a type of hamartoma that is a circumscribed stable malformation of the skin. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:89842)
- Mitten deformity (HP:0004057): Fusion of the hands and feet by a thin membrane of skin (scarring) seen in forms of dystrophic epidermolysis bullosa and leading to a "mitten" hand deformity. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:89842)
- Ankyloglossia (HP:0010296): Short or anteriorly attached lingual frenulum, associated with limited mobility of the tongue. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:89842)
- Gastrostomy tube feeding in infancy (HP:0011471): Feeding problem necessitating gastrostomy tube feeding. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:89842)
- Anal fissure (HP:0012390): A small tear in the thin, moist tissue (mucosa) that lines the anus. It appears as a crack or slit in the mucous membrane of the anus. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:89842)
- Corneal erosion (HP:0200020): An erosion or abrasion of the cornea's outermost layer of epithelial cells. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:89842)
- Squamous cell carcinoma (HP:0002860): The presence of squamous cell carcinoma of the skin. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:89842)