An increased concentration of glucose in the urine.

The presence of an abnormality of cardiac function that is responsible for the failure of the heart to pump blood at a rate that is commensurate with the needs of the tissues or a state in which abnormally elevated filling pressures are required for the heart to do so. Heart failure is frequently related to a defect in myocardial contraction.

The presence of chronic increased pressure in the systemic arterial system.

An abnormal localized widening (dilatation) of the abdominal aorta.

Enlargement of the cardiac ventricular muscle tissue with increase in the width of the wall of the ventricle and loss of elasticity. Ventricular hypertrophy is clinically differentiated into left and right ventricular hypertrophy.

A severe degree of short stature, more than -4 SD from the mean corrected for age and sex.

Steatosis is a term used to denote lipid accumulation within hepatocytes.

An increased concentration of hemoglobin A1c (HbA1c), which is the product of nonenzymatic attachment of a hexose molecule to the N-terminal amino acid of the hemoglobin molecule. This reaction is dependent on blood glucose concentration, and therefore reflects the mean glucose concentration over the previous 8 to 12 weeks. The HbA1c level provides a better indication of long-term glycemic control than one-time blood or urinary glucose measurements.

Reduced diameter of a long bone.

A form of developmental hypoplasia of the mandible in which the mandible is mislocalised posteriorly.

Abnormal widening of the metaphyseal regions of long bones.

Cone-shaped epiphyses (also known as coned epiphyses) are epiphyses that invaginate into cupped metaphyses. That is, the epiphysis has a cone-shaped distal extension resulting from increased growth of the central portion of the epiphysis relative to its periphery.

Head circumference below 2 standard deviations below the mean for age and gender.

A acute form of pancreatitis.

A group of abnormalities characterized by hyperglycemia and glucose intolerance.

Increased resistance towards insulin, that is, diminished effectiveness of insulin in reducing blood glucose levels.

An abnormal resistance to glucose, i.e., a reduction in the ability to maintain glucose levels in the blood stream within normal limits following oral or intravenous administration of glucose.

The concentration of aspartate aminotransferase (AST) in the blood circulation is above the upper limit of normal.

An abnormally high concentration in the circulation of alanine aminotransferase (ALT).

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).

An abnormal increase in the level of triglycerides in the blood.

Abnormally anterior positioning of the infraorbital and perialar regions, or increased convexity of the face, or increased nasolabial angle. The midface includes the maxilla, the cheeks, the zygomas, and the infraorbital and perialar regions of the face

A dermatosis characterized by thickened, hyperpigmented plaques, typically on the intertriginous surfaces and neck.

Cutaneous skin tags also known as acrochorda or fibroepithelial polyps are small benign tumors that may either form secondarily over time primarily in areas where the skin forms creases, such as the neck, armpit or groin or may also be present at birth, in which case they usually occur in the periauricular region.

An elevated concentration of follicle-stimulating hormone in the blood.

An elevated concentration of luteinizing hormone in the blood.

Primary or spontaneous detachment of the retina occurs due to underlying ocular disease and often involves the vitreous as well as the retina. The precipitating event is formation of a retinal tear or hole, which permits fluid to accumulate under the sensory layers of the retina and creates an intraretinal cleavage that destroys the neurosensory process of visual reception. Vitreoretinal degeneration and tear formation are painless phenomena, and in most cases, significant vitreoretinal pathology is found only after detachment of the retina starts to cause loss of vision or visual field. Without surgical intervention, retinal detachment will almost inevitably lead to total blindness (summary by McNiel and McPherson, 1971).