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.

Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used here to describe a series distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here.

Flattening of the superior part of the acetabulum, which is a cup-shaped cavity at the base of the hipbone into which the ball-shaped head of the femur fits. The acetabular roof thereby appears horizontal rather than arched, as it normally does.

Ossification of carpal bones occurs later than age-adjusted norms.

A measured foot length that is more than 2 SD below the mean for a newborn of 27 - 41 weeks gestation, or foot that is less than the 3rd centile for individuals from birth to 16 years of age (objective). Alternatively, a foot that appears disproportionately short (subjective).

Shortening of the middle parts of the arm in relation to the upper and terminal segments.

Visible increase in width of the non-hallux digit without an increase in the dorso-ventral dimension.

A kind of short stature in which different regions of the body are shortened to differing extents.

A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.

The presence of an abnormal lateral curvature of the spine.

A narrowing of the sacrosciatic notch, i.e., the deep indentation in the posterior border of the hip bone at the point of union of the ilium and ischium.

An abnormal accentuation of the inward curvature of the spine in the lumbar region.

An irregular surface of the vertebral end plates, which are normally relatively smooth.

A flattened vertebral body shape with reduced distance between the vertebral endplates.

One or more abnormally short long bone.

Anterior tongue-like protrusions of the vertebral bodies.

A cone-shaped appearance of the epiphyses of the fingers of the hand, producing a 'ball-in-a-socket' appearance. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx.

Underdevelopment of the ilium ala.

Underdevelopment of the pubis, which together with the ilium and the ischium, is one of the three bones that make up the hip bone.

Abnormally large size of one or more growth plates (epiphyses) of the metacarpal bones (i.e., the tubular bones of the hand between the carpus and the phalanges).

Abnormally large size of the epiphyses of the phalanges of the fingers with respect to age-dependent norms.

Wide, concave rib end.

The presence of abnormal punctate (speckled, dot-like) calcifications in the distal epiphysis of the ulna.

Primary or spontaneous detachment of the retina occurs due to underlying ocular disease and often involves the vitreous as well as the retina. The precipitating event is formation of a retinal tear or hole, which permits fluid to accumulate under the sensory layers of the retina and creates an intraretinal cleavage that destroys the neurosensory process of visual reception. Vitreoretinal degeneration and tear formation are painless phenomena, and in most cases, significant vitreoretinal pathology is found only after detachment of the retina starts to cause loss of vision or visual field. Without surgical intervention, retinal detachment will almost inevitably lead to total blindness (summary by McNiel and McPherson, 1971).