The presence of abnormally large testes.

For children from birth to 4 years of age the palm width is more than 2 SD above the mean; for children from 4 to 16 years of age the palm width is above the 95th centile; or, the width of the palm appears disproportionately wide for the length.

The gradual reduction in girth of the finger from proximal to distal.

An abnormally increased extension of the knee joint, so that the knee can bend backwards.

The legs angle inward, such that the knees are close together and the ankles far apart.

Short palm.

Accumulation of substantial excess body fat.

A height above that which is expected according to age and gender norms.

A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).

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

A seizure is an intermittent abnormality of nervous system physiology characterised by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.

Subnormal intellectual functioning which originates during the developmental period. Intellectual disability, previously referred to as mental retardation, has been defined as an IQ score below 70.

Exaggerated anterior convexity of the thoracic vertebral column.

The presence of an abnormal lateral curvature of the spine.

Lack of stability of a joint.

Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline.

Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium.

The palpebral fissure inclination is more than two standard deviations below the mean.

Increase in width of the nasal tip.

Increased distance between the maxillary central permanent incisor tooth.

Forward prominence of the entire forehead, due to protrusion of the frontal bone.

Increased thickness of the lower lip, leading to a prominent appearance of the lower lip. The height of the vermilion of the lower lip in the midline is more than 2 SD above the mean. Alternatively, an apparently increased height of the vermilion of the lower lip in the frontal view (subjective).

Anteriorly-facing nostrils viewed with the head in the Frankfurt horizontal and the eyes of the observer level with the eyes of the subject. This gives the appearance of an upturned nose (upturned nasal tip).

Unusual prominence of the median palatal raphe, which is the ridge formed by the fusion of the two plates of the skull that form the hard palate.

Increased depth of the median tongue furrow.

Decreased size of the maxillary permanent incisor.

Absence of fine and sharp appearance of brows, nose, lips, mouth, and chin, usually because of rounded and heavy features or thickened skin with or without thickening of subcutaneous and bony tissues.

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).