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).

Severe distention of the kidney with dilation of the renal pelvis and calices.

Atrophy of the kidney.

Difficulty in swallowing.

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.

A type of abnormal location of the ears in which the position of the ears is characterized by posterior rotation (the superior part of the ears is rotated towards the back of the head, and the inferior part of the ears towards the front).

A decreased magnitude of the sensory perception of sound.

Absence of neurologic reflexes such as the knee-jerk reaction.

The term gait disturbance can refer to any disruption of the ability to walk. In general, this can refer to neurological diseases but also fractures or other sources of pain that is triggered upon walking. However, in the current context gait disturbance refers to difficulty walking on the basis of a neurological or muscular disease.

A type of Developmental delay characterized by a delay in acquiring motor skills.

Developmental hypoplasia of the mandible.

The presence of an abnormal lateral curvature of the spine.

Reduced strength of muscles.

One or more flexion contractures (a bent joint that cannot be straightened actively or passively) that are present at birth.

The presence of skeletal muscular atrophy (which is also known as amyotrophy).

Reduced muscle tone of a muscle that is innervated by the facial nerve (the seventh cranial nerve).

Muscular hypotonia (abnormally low muscle tone) affecting the musculature of the trunk.

Generalized muscular hypotonia (abnormally low muscle tone).

The rib cage has the shape of a wide mouthed bell. That is, the superior portion of the rib cage is constricted, followed by a convex region, and the inferior portion of the rib cage expands again to have a large diameter.

Muscular hypotonia (abnormally low muscle tone) affecting the musculature of the trunk and with onset in infancy.

Impairment of gas exchange within the lungs secondary to a disease process, neoplasm, or trauma, possibly resulting in hypoxia, hypercarbia, or both, but not requiring intubation or mechanical ventilation. Patients are normally managed with pharmaceutical therapy, supplemental oxygen, or both.

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).

Facial contour, as viewed from the front, triangular in shape, with breadth at the temples and tapering to a narrow chin.

Lack of prominence of the nose resulting from a posteriorly-placed nasal ridge.

An abnormal reduction in quantity or strength of fetal movements.

The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective).

Horizontal nystagmus made apparent by looking to the right or to the left.