The presence of a capillary hemangioma, which are hemangiomas with small endothelial spaces.

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).

A foot where the longitudinal arch of the foot is in contact with the ground or floor when the individual is standing; or, in a patient lying supine, a foot where the arch is in contact with the surface of a flat board pressed against the sole of the foot by the examiner with a pressure similar to that expected from weight bearing; or, the height of the arch is reduced.

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 condition in which the stomach contents leak backwards from the stomach into the esophagus through the lower esophageal sphincter.

Osteopenia is a term to define bone density that is not normal but also not as low as osteoporosis. By definition from the World Health Organization osteopenia is defined by bone densitometry as a T score -1 to -2.5.

The presence of an abnormal lateral curvature of the spine.

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

Reduced width of the chest from side to side, associated with a reduced distance from the sternal notch to the tip of the shoulder.

Decreased width of the wing (or ala) of the ilium (which is the large expanded portion which bounds the greater pelvis laterally).

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

Underdevelopment of the malar prominence of the jugal bone (zygomatic bone in mammals), appreciated in profile, frontal view, and/or by palpation.

Enlargement of the anterior fontanelle with respect to age-dependent norms.

An abnormality of the shape of vertebrae, such that they are wedge-shaped (narrow towards the back).

Increased height of the wing (or ala) of the ilium (which is the large expanded portion which bounds the greater pelvis laterally).

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

A delay in closure (ossification) of the anterior fontanelle, which generally undergoes closure around the 18th month of life.

Caries is a multifactorial bacterial infection affecting the structure of the tooth. This term has been used to describe the presence of more than expected dental caries.

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

Developmental hypoplasia of teeth.

Delayed tooth eruption, which can be defined as tooth eruption more than 2 SD beyond the mean eruption age.

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).

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

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).

Greater than average forward and/or lateral protrusion of the supraorbital portion of the frontal bones.

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

Posterior positions and/or vertical shortening of the infraorbital and perialar regions, or increased concavity of the face and/or reduced nasolabial angle.

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

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).

Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate).

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

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

Hair shafts are rough in texture.

Reduced density of hairs.

A form of strabismus with one or both eyes turned inward ('crossed') to a relatively severe degree, usually defined as 10 diopters or more.

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).

Atrophy of the optic nerve. Optic atrophy results from the death of the retinal ganglion cell axons that comprise the optic nerve and manifesting as a pale optic nerve on fundoscopy.

A type of cataract with punctate opacities of the lens.

A type of sutural cataract in which the opacity follows the posterior Y suture.