Cryptorchidism, or failure of testicular descent, is a common human congenital abnormality with a multifactorial etiology that likely reflects the involvement of endocrine, environmental, and hereditary factors. Cryptorchidism can result in infertility and increases risk for testicular tumors. Testicular descent from abdomen to scrotum occurs in 2 distinct phases: the transabdominal phase and the inguinoscrotal phase (summary by Gorlov et al., 2002).

Abnormally increased size of the liver.

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

A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.

A persistent (minutes to hours) abnormal increase in the pitch (frequency) of the voice for the context or social situation or significantly different from baseline of the individual.

A limitation in the passive range of motion of a joint resulting from loss of elasticity in the periarticular tissues owing to structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules or skin. A contracture prevents movement of the associated body part.

Exaggerated anterior convexity of the thoracic vertebral column.

Degenerative changes of the fat tissue.

Developmental hypoplasia of the mandible.

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).

The presence of an abnormal lateral curvature of the spine.

Loss (disappearance) of previously present subcutaneous fat tissue in arm or leg.

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

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

Elevations of the levels of SGOT and SGPT in the serum. SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) are transaminases primarily found in the liver and heart and are released into the bloodstream as the result of liver or heart damage. SGOT and SGPT are used clinically mainly as markers of liver damage.

Distance between the commissures of the mouth more than 2 SD below the mean. Alternatively, an apparently decreased width of the oral aperture (subjective).

Changes in alignment of teeth in the dental arch

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.

Partial or complete wasting (atrophy) of the skin.

Presence of small, permanently dilated blood vessels near the surface of the skin, visible as small focal red lesions.

Familial male hypogonadism is a highly heterogeneous category from which some disorders such as Reifenstein syndrome (312300), Kallmann syndrome (see 308700), isolated gonadotropin deficiency, and some other entities can be separated. The presence of an autosomal recessive form is suggested by the occurrence of parental consanguinity (Nowakowski and Lenz, 1961).

An eye that is protruding anterior to the plane of the face to a greater extent than is typical.