A gap in the upper lip. This is a congenital defect resulting from nonfusion of tissues of the lip during embryonal development.

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).

An extra-parenchymal and intra-arachnoidal collection of fluid with a composition similar to that of cerebrospinal fluid.

Congenital lack, i.e., aplasia of the diaphragm.

A cyst occurring within the choroid plexus within a cerebral ventricle.

A discrete posterior fossa cerebrospinal fluid (CSF) collection that does not communicate directly with the fourth ventricle.

A bending or abnormal curvature of the radius.

Absence or underdevelopment of the tibia.

Polydactyly of the foot most commonly refers to the presence of six toes on one foot. Postaxial polydactyly affects the lateral ray and the duplication may range from a well-formed articulated digit to a rudimentary digit.

Duplication of all or part of the first ray.

Any abnormality of the thorax (the region of the body formed by the sternum, the thoracic vertebrae and the ribs).