A congenital anomaly characterized by the presence of supernumerary fingers or toes.

Complete absence of the interatrial septum with common atrioventricular valve and two atrioventricular connections.

The term large for gestational age applies to babies whose birth weight lies above the 90th percentile for that gestational age.

Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.

Developmental hypoplasia of the mandible.

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.

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

Reduced diameter of a long bone.

Abnormal thinning of the cortical region of bones.

Abnormally increased dimension of the maxilla, especially relative to the mandible, resulting in a malocclusion or malalignment between the upper and lower teeth or in anterior positioning of the nasal base, increased convexity of the face, increased nasolabial angle, or increased width (transverse dimension of the maxilla.

Underdevelopment of the bony pelvis.

Different levels of maturation of different bones.

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

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

Dental malocclusion refers to an abnormality of the occlusion, or alignment, of the teeth and the way the upper and lower teeth fit together, resulting in overcrowding of teeth or in abnormal bite patterns.

Distance between the inner canthi more than two standard deviations above the mean (objective); or, apparently increased distance between the inner canthi.

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

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).

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.

Decreased length of the eyelashes (subjective).

The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective).

A form of strabismus with one or both eyes deviated outward.