Phenotypes associated with the disease Mandibuloacral dysplasia (ORPHA:2457):
- High palate (HP:0000218): Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2457)
- Full cheeks (HP:0000293): Increased prominence or roundness of soft tissues between zygomata and mandible. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2457)
- Micrognathia (HP:0000347): Developmental hypoplasia of the mandible. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2457)
- Narrow nose (HP:0000460): Interalar distance more than 2 SD below the mean for age, or alternatively, an apparently decreased width of the nasal base and alae. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2457)
- Increased adipose tissue around the neck (HP:0000468): An increased amount of subcutaneous fat tissue around the neck. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2457)
- Hyperinsulinemia (HP:0000842): An increased concentration of insulin in the blood. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2457)
- Insulin resistance (HP:0000855): Increased resistance towards insulin, that is, diminished effectiveness of insulin in reducing blood glucose levels. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2457)
- 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:2457)
- Abnormal skin pigmentation (HP:0001000): An abnormality of the pigmentation of the skin. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2457)
- Loss of subcutaneous adipose tissue in limbs (HP:0003635): Loss (disappearance) of previously present subcutaneous fat tissue in arm or leg. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2457)
- Contractures of the large joints (HP:0005781). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2457)
- Lipoatrophy (HP:0100578): Localized loss of fat tissue. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2457)
- Delayed cranial suture closure (HP:0000270): Infants normally have two fontanels at birth, the diamond-shaped anterior fontanelle at the junction of the coronal and sagittal sutures, and the posterior fontanelle at the intersection of the occipital and parietal bones. The posterior fontanelle usually closes by the 8th week of life, and the anterior fontanel closes by the 18th month of life on average. This term applies if there is delay of closure of the fontanelles beyond the normal age. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2457)
- Dental crowding (HP:0000678): Changes in alignment of teeth in the dental arch. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2457)
- Hypoplasia of teeth (HP:0000685): Developmental hypoplasia of teeth. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2457)
- Insulin-resistant diabetes mellitus (HP:0000831): A type of diabetes mellitus related not to lack of insulin but rather to lack of response to insulin on the part of the target tissues of insulin such as muscle, fat, and liver cells. This type of diabetes is typically associated with increases both in blood glucose concentrations as well as in fasting and postprandial serum insulin levels. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2457)
- Short clavicles (HP:0000894): Reduced length of the clavicles. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2457)
- Acanthosis nigricans (HP:0000956): A dermatosis characterized by thickened, hyperpigmented plaques, typically on the intertriginous surfaces and neck. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2457)
- Abnormally large globe (HP:0001090): Diffusely large eye (with megalocornea) without glaucoma. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2457)
- Alopecia (HP:0001596): A noncongenital process of hair loss, which may progress to partial or complete baldness. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2457)
- Hypoplastic fingernail (HP:0001804): Underdevelopment of a fingernail. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2457)
- Acroosteolysis of distal phalanges (feet) (HP:0001870). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2457)
- Glucose intolerance (HP:0001952): Glucose intolerance (GI) can be defined as dysglycemia that comprises both prediabetes and diabetes. It includes the conditions of impaired fasting glucose (IFG) and impaired glucose tolerance (IGT) and diabetes mellitus (DM). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2457)
- Hypertriglyceridemia (HP:0002155): An abnormal increase in the level of triglycerides in the blood. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2457)
- Hypercholesterolemia (HP:0003124): An increased concentration of cholesterol in the blood. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2457)
- Reduced intrathoracic adipose tissue (HP:0003809): An abnormally reduced amount of adipose tissue in the thoracic cavity. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2457)
- Sparse hair (HP:0008070): Reduced density of hairs. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2457)
- Postnatal growth retardation (HP:0008897): Slow or limited growth after birth. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2457)
- Increased intraabdominal fat (HP:0008993): An abnormal increase in the amount of intraabdominal fat tissue. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2457)
- Increased subcutaneous truncal adipose tissue (HP:0009003): The presence of an abnormally increased amount of subcutaneous adipose tissue in the trunk of the body. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2457)
- Osteolytic defects of the distal phalanges of the hand (HP:0009839). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2457)
- Facial shape deformation (HP:0011334). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2457)
- Increased circulating free fatty acid level (HP:0030781): A higher than normal levels of the fatty acids which can occur in plasma as a result of lipolysis in adipose tissue or when plasma triacyglycerols are taken into tissues. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2457)
- Abnormal tongue morphology (HP:0030809): Any structural anomaly of the tongue. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2457)