The distal and proximal transverse palmar creases are merged into a single transverse palmar crease.

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).

An abnormality of vibrational conductance of sound to the inner ear leading to impairment of sensory perception of sound.

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 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.

Persistent deficits in social interaction and communication and interaction as well as a markedly restricted repertoire of activity and interest as well as repetitive patterns of behavior.

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

Impairment of certain skills such as reading or writing, coordination, self-control, or attention that interfere with the ability to learn. The impairment is not related to a global deficiency of intelligence.

Reduced convexity of the occiput (posterior part of skull).

Generalized muscular hypotonia (abnormally low muscle tone).

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

The presence of one or more teeth additional to the normal number.

A facial appearance characterized by a permanently or nearly permanently opened mouth.

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).

Hard-palate submucous clefts are characterized by bony defects in the midline of the bony palate that are covered by the mucous membrane of the roof of the mouth. It may be possible to detect a submucous cleft hard palate upon palpation as a notch in the bony palate.

Height of the vermilion of the medial part of the lip more than 2 SD below the mean, or apparently reduced height of the vermilion of the lip in the frontal view. The vermilion is the red part of the lips (and confusingly, the vermilion itself is also often referred to as being equivalent the lips).

Epicanthus is a condition in which a fold of skin stretches from the upper to the lower eyelid, partially covering the inner canthus. Usher (1935) noted that epicanthus is a normal finding in the fetus of all races. Epicanthus also occurs in association with hereditary ptosis (110100).

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

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).

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

Increased height of the central portion of the eyebrow, forming a crescent, semicircular, or inverted U shape.

Uvula separated into two parts most easily seen at the tip.

Increase in periorbital soft tissue.

Fragile, easily breakable hair, i.e., with reduced tensile strength.

Meeting of the medial eyebrows in the midline.

A soft tissue prominence of the ventral aspects of the fingertips. The term "persistent fetal fingertip pads" is often used as a synonym, but should better not be used because it implies knowledge of history of the patient which often does not exist.

Mid upper eyelash length >10 mm or increased length of the eyelashes (subjective).

An abnormal bluish coloration of the sclera.