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).

Ossification of carpal bones at an abnormally early age.

Abnormally low body weight.

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.

Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.

Lack of stability of a joint.

Synostosis (bony fusion) involving one or more bones of the carpus (scaphoid, lunate, triquetrum, trapezium, trapezoid, capitate, hamate, pisiform).

An abnormal curvature of the spine in both a coronal (lateral) and sagittal (back-to-front) plane.

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

The presence of a splayed (i.e.,flared) metaphyseal segment of one or more long bones.

Generalized muscular hypotonia (abnormally low muscle tone).

A defect of the chest wall characterized by a depression of the sternum, giving the chest ("pectus") a caved-in ("excavatum") appearance.

Forward prominence of the entire forehead, due to protrusion of the frontal bone.

Absence of concavity or convexity of the face when viewed in profile.

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).

Increased width of the upper lip.

Wrinkled, redundant, inelastic and sagging skin.

A condition in which the skin can be stretched beyond normal, and then returns to its initial position.

Reduced density of hairs.

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

An abnormal bluish coloration of the sclera.