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.

Coxa valga is a deformity of the hip in which the angle between the femoral shaft and the femoral neck is increased compared to age-adjusted values (about 150 degrees in newborns gradually reducing to 120-130 degrees in adults).

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.

An abnormal position of the hand in which the wrist is bent toward the radius (i.e., toward the thumb).

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.

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.

Abnormally broad metacarpal bones.

Short palm.

Increased length of the ulna.

Disproportionately long fibulae.

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).

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

Limited ability to straighten the arm at the elbow joint.

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.

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.

Exaggerated anterior convexity of the thoracic vertebral column.

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

Abnormally small dimension of the Maxilla. Usually creating a malocclusion or malalignment between the upper and lower teeth or resulting in a deficient amount of projection of the base of the nose and lower midface region.

Reduced length of the clavicles.

An osteochondrodysplasia that results in abnormalities of bone growth in the vertebral column, epiphysis, and metaphysis.

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

Wide, concave posterior rib end.

Irregularity of the normally smooth surface of the metaphyses.

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

The capability that a joint (or a group of joints) has to move, passively and/or actively, beyond normal limits along physiological axes.

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

The odontoid process, or dens, is a bony projection from the axis (C2) upward into the ring of the atlas (C1) at the top of the spine. During embryogenesis, the body of the odontoid derives from the centrum of the atlas and separates from the atlas, fusing with the superior portion of the axis. If the odontoid is hypoplastic or absent, the attachments for the apical and alar ligaments are missing, allowing for excessive rotation of the atlas, craniocervical instability, and possibly cord compression (summary by Stevens et al., 2009).

Reduced side to side width of the pelvis.

One or more abnormally short long bone.

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.

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.

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.

An abnormality of the shape of the thoracic vertebra T12 such that it is wedge-shaped (narrow towards the front).

Increased cross-section (diameter) of the long bones. Note that widening may primarily affect specific regions of long bones (e.g., diaphysis or metaphysis), but this should be coded separately.

An abnormality of the shape of the thoracic vertebra T11 such that it is wedge-shaped (narrow towards the front).

Increased width of the diaphysis of long bones.

The distal epiphysis (rounded portion of bone at the far end of the radius distal to the growth plate) has an abnormal cone-shaped appearance.

An abnormality of alkaline phosphatase level.

An abnormal morphology (form) of the face or its components.