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 small penis. At birth, the normal penis is about 3 cm (stretched length from pubic tubercle to tip of penis) with micropenis less than 2.0-2.5 cm.

Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used here to describe a series distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here.

Disproportionately small hand.

Short (hypoplastic) phalanx of finger, affecting one or more phalanges.

Increased width of a non-thumb digit of the hand.

An angulation of a digit at an interphalangeal joint in the plane of the palm (finger) or sole (toe).

Accumulation of fluid within the pericardium.

The presence of an abscess located around the anus.

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

A condition in which the helix is folded over to a greater degree than normal. That is, excessive curling of the helix edge, whereby the free edge is parallel to the plane of the ear.

Mild intellectual disability is defined as an intelligence quotient (IQ) in the range of 50-69.

A deformity of the chest caused by overgrowth of the ribs and characterized by protrusion of the sternum.

A defect of the chest wall characterized by a depression of the sternum, giving the chest ("pectus") a caved-in ("excavatum") appearance.

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

The palpebral fissure inclination is more than two standard deviations above the mean for age (objective); or, the inclination of the palpebral fissure is greater than typical for age.

An abnormal morphology (form) of the face or its components.

Increased breadth of the nasal bridge (and with it, the nasal root).

Frontal hairline with bilateral arcs to a low point in the midline of the forehead.

Increased density/number and/or increased diameter of eyebrow hairs.

Distance between nasal base and midline upper lip vermilion border more than 2 SD above the mean. Alternatively, an apparently increased distance between nasal base and midline upper lip vermilion border.

Height of the vermilion of the upper lip in the midline more than 2 SD below the mean. Alternatively, an apparently reduced height of the vermilion of the upper lip in the frontal view (subjective).

Oral commissures positioned superior to the midline labial fissure.

A larger than usual distance between the left and right nipple.

Although hypertelorism means an excessive distance between any paired organs (e.g., the nipples), the use of the word has come to be confined to ocular hypertelorism. Hypertelorism occurs as an isolated feature and is also a feature of many syndromes, e.g., Opitz G syndrome (see 300000), Greig cephalopolysyndactyly (175700), and Noonan syndrome (163950) (summary by Cohen et al., 1995).