Short (hypoplastic) phalanx of finger, affecting one or more phalanges.

Diminished length of one or more metacarpal bones in relation to the others of the same hand or to the contralateral metacarpal.

Abnormally broad metacarpal bones.

Increased side-to-side width of one or more phalanges of the fingers or toes.

A severe degree of short stature, more than -4 SD from the mean corrected for age and sex.

An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age.

Abnormally low body weight.

A degree of language development that is significantly below the norm for a child of a specified age.

A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.

Presence of only 11 pairs of ribs.

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

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).

Width of the forehead or distance between the frontotemporales is more than two standard deviations above the mean (objective); or apparently increased distance between the two sides of the forehead.

Reduced density of hairs.

A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error.