The presence of abnormally small extremities.

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.

Limb shortening because of underdevelopment of one or more bones of the extremities.

An abnormal shortening of the femur.

A positional abnormality marked by outward bowing of the legs in which the knees stay wide apart when a person stands with the feet and ankles together.

Significant reduction in both length and girth of the finger compared to the contralateral finger, or alternatively, compared to a typical finger size for an age-matched individual.

Underdevelopment of the radius.

Underdevelopment of the humerus.

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

Short distance from the end of the finger to the most distal interphalangeal crease or the distal interphalangeal joint flexion point. That is, hypoplasia of one or more of the distal phalanx of finger.

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

Short palm.

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

Underdevelopment (reduced size) of the tibia.

Presence of only one (instead of two, as normal) interphalangeal crease of the fifth finger.

Hypoplastic (short) proximal phalanx of the thumb. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.

A bending or abnormal curvature of the radius.

Congenital hypoplasia of one or more proximal phalanx of finger.

Underdevelopment of the ulna.

Relatively increased growth of the fibula compared to that of the tibia.

The presence of developmental dysplasia of the femoral head.

A cone-shaped appearance of the epiphysis of the 1st metacarpal, producing a 'ball-in-a-socket' appearance.

Coxa vara includes all forms of decrease of the femoral neck shaft angle (the angle between the neck and the shaft of the femur) to less than 120 degrees.

Size (volume) of the head of the humerus above the upper limit of normal.

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 type of disproportionate short stature characterized by a short limbs but an average-sized trunk.

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.

The presence of an abnormal lateral curvature of the spine.

A deformity of the chest caused by overgrowth of the ribs and characterized by protrusion of the sternum.

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 rib length.

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

An abnormally short femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft).

An abnormal enlargement of the distal epiphysis of the femur.

A cone-shaped deformity of the proximal epiphysis of the femur.

A relatively mild degree of macrocephaly in which the head circumference is not above two standard deviations from the mean, but appears dysproportionately large when other factors such as body stature are taken into account.

A cone-shaped appearance of the epiphyses of the metacarpal bones, producing a 'ball-in-a-socket' appearance. This epiphyses are located at the distal ends of the metacarpal bones.

When viewed in lateral radiographs, vertebral bodies have a roughly rectangular configuration. This term applies if the vertebral body appears rounded or oval.

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.

Cone-shaped epiphyses (also known as coned epiphyses) are epiphyses that invaginate into cupped metaphyses. That is, the epiphysis has a cone-shaped distal extension resulting from increased growth of the central portion of the epiphysis relative to its periphery.

Wide, concave rib end.

Widening of the ilium ala, that is of the wing of the ilium, combined with external rotation, leading to a flared appearance of the iliac wing.

A defect of the chest wall characterized by a depression of the sternum, giving the chest ("pectus") a caved-in ("excavatum") appearance.

Decreased length of nail.

Increased width of nail.