An organ or organ-system abnormality that consists of uncontrolled autonomous cell-proliferation which can occur in any part of the body as a benign or malignant neoplasm (tumor).

A malignant bone tumor that usually develops during adolescence and usually affects the long bones including the tibia, femur, and humerus. The typical symptoms of osteosarcoma comprise bone pain, fracture, limitation of motion, and tenderness or swelling at the site of the tumor.

Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear.

An abnormality of the pinna, which is also referred to as the auricle or external ear.

An abnormality of the hematopoietic system.

Osteoporosis is a systemic skeletal disease characterized by low bone density and microarchitectural deterioration of bone tissue with a consequent increase in bone fragility. According to the WHO criteria, osteoporosis is defined as a BMD that lies 2.5 standard deviations or more below the average value for young healthy adults (a T-score below -2.5 SD).

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

A group of abnormalities characterized by hyperglycemia and glucose intolerance.

The facial appearance is more circular than usual as viewed from the front.

Posterior positioning of the nasal root in relation to the overall facial profile for age.

An abnormality of the hair.

A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule.