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).

Webbing or fusion of the fingers or toes, involving soft parts only or including bone structure. Bony fusions are referred to as "bony" syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers or toes in a proximo-distal axis are referred to as "symphalangism".

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.

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.

Proximal mislocalization of the thumb.

One or more digit that appears disproportionately short compared to the hand/foot, whereby either the entire digit or a specific phalanx is shortened.

A severe degree of short stature, more than -4 SD from the mean corrected for age and sex.

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

Abnormally low body weight.

Focal impaired awareness seizure (or focal seizure with impaired or lost awareness) is a type of focal-onset seizure characterized by some degree (which may be partial) of impairment of the person's awareness of themselves or their surroundings at any point during the seizure.

Underdevelopment of the corpus callosum.

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

A reduction in erythrocytes volume or hemoglobin concentration.

A type of poikilocytosis characterized by the presence in the blood of erythrocytes of varying sizes and abnormal shapes.

Osteopenia is a term to define bone density that is not normal but also not as low as osteoporosis. By definition from the World Health Organization osteopenia is defined by bone densitometry as a T score -1 to -2.5.

Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline.

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

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

Increased susceptibility to infections.

An abnormally increased height of the forehead.

Distance between the inner canthi more than two standard deviations above the mean (objective); or, apparently increased distance between the inner canthi.

Decreased density/number of eyebrow hairs.

Posterior positioning of the nasal root in relation to the overall facial profile for age.

Anteriorly-facing nostrils viewed with the head in the Frankfurt horizontal and the eyes of the observer level with the eyes of the subject. This gives the appearance of an upturned nose (upturned nasal tip).

Decreased number of hairs per unit area of skin of the scalp.

An eye that is protruding anterior to the plane of the face to a greater extent than is typical.

A form of strabismus with one or both eyes deviated outward.

Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.

A severe form of myopia with greater than -6.00 diopters.