Phenotypes associated with the disease Lipodystrophy due to peptidic growth factors deficiency (ORPHA:1979):
- 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: Very frequent (HP:0040281). (ORPHA:1979)
- Abnormality of the face (HP:0000271): An abnormality of the face. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1979)
- Micrognathia (HP:0000347): Developmental hypoplasia of the mandible. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1979)
- Convex nasal ridge (HP:0000444): Nasal ridge curving anteriorly to an imaginary line that connects the nasal root and tip. The nose appears often also prominent, and the columella low. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1979)
- 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: Very frequent (HP:0040281). (ORPHA:1979)
- 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:1979)
- Thickened skin (HP:0001072): Laminar thickening of skin. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1979)
- 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: Very frequent (HP:0040281). (ORPHA:1979)
- Joint stiffness (HP:0001387): Joint stiffness is a perceived sensation of tightness in a joint or joints when attempting to move them after a period of inactivity. Joint stiffness typically subsides over time. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1979)
- Pes planus (HP:0001763): A foot where the longitudinal arch of the foot is in contact with the ground or floor when the individual is standing; or, in a patient lying supine, a foot where the arch is in contact with the surface of a flat board pressed against the sole of the foot by the examiner with a pressure similar to that expected from weight bearing; or, the height of the arch is reduced. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1979)
- Weight loss (HP:0001824): Reduction of total body weight. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1979)
- Reduced subcutaneous adipose tissue (HP:0003758): A reduced amount of fat tissue in the lowest layer of the integument. This feature can be appreciated by a reduced skinfold thickness. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1979)
- Cachexia (HP:0004326): Severe weight loss, wasting of muscle, loss of appetite, and general debility related to a chronic disease. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1979)
- Aplasia/Hypoplasia of the skin (HP:0008065). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1979)
- Lipodystrophy (HP:0009125): Degenerative changes of the fat tissue. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1979)
- Lipoatrophy (HP:0100578): Localized loss of fat tissue. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1979)
- Lack of skin elasticity (HP:0100679). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1979)
- Abnormal thorax morphology (HP:0000765): Any abnormality of the thorax (the region of the body formed by the sternum, the thoracic vertebrae and the ribs). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1979)
- Abnormal skin pigmentation (HP:0001000): An abnormality of the pigmentation of the skin. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1979)
- Abnormal hair morphology (HP:0001595): An abnormality of the hair. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1979)
- Premature graying of hair (HP:0002216): Development of gray hair at a younger than normal age. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1979)
- Atherosclerosis (HP:0002621): A condition characterized by patchy atheromas or atherosclerotic plaques which develop in the walls of medium-sized and large arteries and can lead to arterial stenosis with reduced or blocked blood flow. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1979)
- Abnormality of the lower limb (HP:0002814): An abnormality of the leg. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1979)
- Abnormality of the upper limb (HP:0002817): An abnormality of the arm. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1979)
- Abnormal circulating lipid concentration (HP:0003119): Any deviation from the normal concentration of a lipid in the blood circulation. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1979)
- Reduced bone mineral density (HP:0004349): A reduction of bone mineral density, that is, of the amount of matter per cubic centimeter of bones. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1979)
- Hyperlipoproteinemia (HP:0010980): An abnormal increase in the level of lipoprotein cholesterol in the blood. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1979)
- Type I diabetes mellitus (HP:0100651): A chronic condition in which the pancreas produces little or no insulin. Type I diabetes mellitus is manifested by the sudden onset of severe hyperglycemia with rapid progression to diabetic ketoacidosis unless treated with insulin. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1979)