Abnormally long and slender fingers ("spider fingers").

Length of the thumb is greater than normal.

Proximal mislocalization of the thumb.

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).

A deficiency or slowing down of growth pre- and postnatally.

Underdevelopment of the external ear.

Attachment of the lobe to the side of the face at the lowest point of the lobe without curving upward.

A reduction in erythrocytes volume or hemoglobin concentration.

A reduction in the number of circulating thrombocytes.

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

The capability that a joint (or a group of joints) has to move, passively and/or actively, beyond normal limits along physiological axes.

Prominent positioning of the premaxilla in relation to the rest of the maxilla, the facial skeleton, or mandible. Not necessarily caused by an increase in size (hypertrophy of) the premaxilla.

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

Dryness of the eye related to deficiency of the tear film components (aqueous, mucin, or lipid), lid surface abnormalities, or epithelial abnormalities. Keratoconjunctivitis sicca often results in a scratchy or sandy sensation (foreign body sensation) in the eyes, and may also be associated with itching, inability to produce tears, photosensitivity, redness, pain, and difficulty in moving the eyelids.

Increased susceptibility to infections.

Changes in alignment of teeth in the dental arch

The facial appearance is more circular than usual as viewed from the front.

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).

Flat skin surface, with no ridge formation in the central region of the upper lip between the nasal base and upper vermilion border.

Thinned, deficient, or excessively arched ala nasi.

Decreased width of the nasal ridge.

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).

Delayed tooth eruption affecting the secondary dentition.

Anterior positioning of the nasal root in comparison to the usual positioning for age.

Abnormally increased hair growth referring to a male pattern of body hair (androgenic hair).

Livedo reticularis is characterized by the presence of a bluish purple, mottled or netlike pattern in unbroken circles on the skin. Exposure to cold environments usually intensifies the vascular pattern. Presumably, the condition results from slow or stagnant blood flow, vessel-wall pathology, and decreased oxygen tension.

Skin characterized by the lack of natural or normal moisture.

Refers to the loss of the outer layer of the epidermis in large, scale-like flakes.

An anomaly of the hair follicles of the skin that typically presents as small, rough, brown folliculocentric papules distributed over characteristic areas of the skin, particularly the outer-upper arms and thighs.

An increased sensitivity of the skin to light. Photosensitivity may result in a rash upon exposure to the sun (which is known as photodermatosis). Photosensitivity can be diagnosed by phototests in which light is shone on small areas of skin.

Reduction in thickness of the skin, generally associated with a loss of suppleness and elasticity of the skin.

A degree of wrinkling of the facial skin that is more than expected for the age of the individual, leading to a prematurely aged appearance.

Lack of eyelashes on the lower lid.

A reddish appearance over the white part (sclera) of the eye ranging from a few enlarged blood vessels appearing as wiggly lines over the sclera to a bright red color completely covering to sclera.

An eye that is more deeply recessed into the plane of the face than is typical.