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 type of knee joint contracture in which the knee is in a fixed bent (flexed) configuration such that it cannot be straightened actively or passively.

A moderate degree of slow or limited growth after birth, being between three and four standard deviations below age- and sex-related norms.

The presence of an abnormal lateral curvature of the spine.

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

Lack of full passive range of motion (restrictions in flexion, extension, or other movements) of the hip joint resulting from structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules and/or skin.

The presence of abnormal punctate (speckled, dot-like) calcifications in one or more epiphyses.

Underdevelopment of the nasal bone.

The concentration of vitamin K in the blood circulation is below the lower limit of normal.

Hair shafts are rough in texture.

Reduced density of hairs.

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