Clubfoot is a congenital limb deformity defined as fixation of the foot in cavus, adductus, varus, and equinus (i.e., inclined inwards, axially rotated outwards, and pointing downwards) with concomitant soft tissue abnormalities (Cardy et al., 2007). Clubfoot may occur in isolation or as part of a syndrome (e.g., diastrophic dysplasia, 222600). Clubfoot has been reported with deficiency of long bones and mirror-image polydactyly (Gurnett et al., 2008; Klopocki et al., 2012).

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.

For children from birth to 4 years of age the palm width is more than 2 SD above the mean; for children from 4 to 16 years of age the palm width is above the 95th centile; or, the width of the palm appears disproportionately wide for the length.

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.

The legs angle inward, such that the knees are close together and the ankles far apart.

A bending or abnormal curvature of the tibia.

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.

Diminished length of a metatarsal bone, with resultant proximal displacement of the associated toe.

Clinodactyly refers to a bending or curvature of the fifth finger in the radial direction (i.e., towards the 4th finger).

Underdevelopment of one or more carpal bones.

A foot for which the measured width is above the 95th centile for age; or, a foot that appears disproportionately wide for its length.

Disproportionate shortening of the proximal segment of limbs (i.e. the femur and humerus).

Disproportionate shortening of the proximal segment of the arm (i.e. the humerus).

Protruding heel bone, or calcaneus.

Slow or limited growth after birth.

Distention of the abdomen.

Protrusion of the rectal mucous membrane through the anus.

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 severe delay in the achievement of motor or mental milestones in the domains of development of a child.

Complete lack of development of speech and language abilities.

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.

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.

A rounded, bulging chest that resembles the shape of a barrel. That is, there is an increased anteroposterior diameter and usually some degree of kyphosis.

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.

The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers or toes cannot be extended to 180 degrees by either active or passive extension.

Over curvature of the thoracic region, leading to a round back or if sever to a hump.

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

A broad chest.

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

Underdeveloped scapula.

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).

Abnormal widening of the metaphyseal regions of long bones.

Abnormally flat configuration of the glenoid fossa, also known as the glenoid cavity, which is the articular surface of the scapula that articulates with the head of the humerus.

Anterior tongue-like protrusions of the vertebral bodies.

A reduction in the freedom of movement of one or more joints.

Abnormally increased size of the costochondral junctions, which are located between the distal part of the ribs and the costal cartilages, which are bars of hyaline cartilage that connect the ribs to the sternum.

Irregularities of the iliac crest that produce the appearance of a lace border around it.

Abnormally increased width of the pubic symphysis is the midline cartilaginous joint uniting the superior rami of the left and right pubic bones.

The presence of an abnormally thick calvaria.

Bowing (abnormal curvature) of the femur.

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.

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

Distance between the oral commissures more than 2 SD above the mean. Alternatively, an apparently increased width of the oral aperture (subjective).

Abnormal prominence of the chin related to increased length of the mandible.

Diminished length of the neck.

Flat skin surface, with no ridge formation in the central region of the upper lip between the nasal base and upper vermilion border.

Absence of fine and sharp appearance of brows, nose, lips, mouth, and chin, usually because of rounded and heavy features or thickened skin with or without thickening of subcutaneous and bony tissues.

Increased density/number and/or increased diameter of eyebrow hairs.

Increased thickness of an oral frenulum, flaps of mucous membrane that extend from the midline gingiva to the upper or lower lip.

Hair that is fine or thin to the touch.

Meeting of the medial eyebrows in the midline.