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.

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

Smaller than normal size according to sex and gestational age related norms, defined as a weight below the 10th percentile for the gestational age.

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).

Abnormally low body weight.

Median longitudinal ear length greater than two standard deviations above the mean and median ear width greater than two standard deviations above the mean (objective); or, apparent increase in length and width of the pinna (subjective).

A type of abnormal location of the ears in which the position of the ears is characterized by posterior rotation (the superior part of the ears is rotated towards the back of the head, and the inferior part of the ears towards the front).

Weakness of the hip girdle and upper thigh muscles, for instance in myopathies, leads to an instability of the pelvis on standing and walking. If the muscles extending the hip joint are affected, the posture in that joint becomes flexed and lumbar lordosis increases. The patients usually have difficulties standing up from a sitting position. Due to weakness in the gluteus medius muscle, the hip on the side of the swinging leg drops with each step (referred to as Trendelenburg sign). The gait appears waddling. The patients frequently attempt to counteract the dropping of the hip on the swinging side by bending the trunk towards the side which is in the stance phase (in the German language literature this is referred to as Duchenne sign). Similar gait patterns can be caused by orthopedic conditions when the origin and the insertion site of the gluteus medius muscle are closer to each other than normal, for instance due to a posttraumatic elevation of the trochanter or pseudarthrosis of the femoral neck.

A type of motor delay characterized by a delay in acquiring the ability to control the large muscles of the body for walking, running, sitting, and crawling.

Protrusion of the contents of the abdominal cavity through the inguinal canal.

Exaggerated anterior convexity of the thoracic vertebral column.

A disorder of bone growth affecting the vertebrae and the ends of the long bones (epiphyses).

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

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

A reduction of bone mineral density, that is, of the amount of matter per cubic centimeter of bones.

The activity of beta-glucuronidase (EC 3.2.1.31) in the blood circulation is above the upper limit of normal.

Forward prominence of the entire forehead, due to protrusion of the frontal bone.

A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule.