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).

Hypoplasia (congenital reduction in size) of the thumb.

A partial dislocation of the hip joint, whereby the head of the femur is partially displaced from the socket.

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

Underdevelopment of the radius.

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

A smaller than normal acetabulum that has insufficient femoral head coverage leading to abnormal hip joint contact pressures, instability and pain.

Underdevelopment of the fibula.

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

Hypoplasia (congenital reduction in size) of the fifth finger, also known as the little finger.

Underdevelopment of the thenar eminence with reduced palmar soft tissue mass surrounding the base of the thumb.

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

Underdevelopment (reduced size) of the tibia.

Reduced muscle mass on the ulnar side of the palm, that is, reduction in size of the hypothenar eminence.

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

Proximal mislocalization of the thumb.

Underdevelopment (hypoplasia) of the big toe.

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

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).

Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it.

Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear.

Angle formed by the plane of the ear and the mastoid bone greater than the 97th centile for age (objective); or, outer edge of the helix more than 2 cm from the mastoid at the point of maximum distance (objective).

A degree of language development that is significantly below the norm for a child of a specified age.

A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.

Displacement of the femur from its normal location in the hip joint.

Developmental hypoplasia of the mandible.

Midline deficiency of the mandible and some or all overlying tissues.

A form of developmental hypoplasia of the mandible in which the mandible is mislocalised posteriorly.

An abnormality of the aryepiglottic fold.

Absence of the epiglottis.

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

Pierre Robin sequence is a craniofacial anomaly comprising mandibular hypoplasia, cleft secondary palate, and glossoptosis leading to life-threatening obstructive apnea and feeding difficulties during the neonatal period (summary by Tan et al., 2013).

Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective).

Distance between subnasale and pronasale more than two standard deviations above the mean, or alternatively, an apparently increased anterior protrusion of the nasal tip.

Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate).

Agenesis of lower secondary incisor or lower primary incisor.

Uvula separated into two parts most easily seen at the tip.