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".

A kind of polydactyly characterized by the presence of a supernumerary finger or fingers.

Congenital malformation of the ventral wall with partial or total evisceration of the heart outside the thoracic cavity and through the defect in the ventral wall.

Eversion of the posterior bladder wall through the congenitally absent lower anterior abdominal wall and anterior bladder wall.

Gastroschisis is a congenital defect of the abdominal wall that occurs laterally to, and often to the right of, a normally closed umbilical ring. Visceral organs that herniate through the defect are not covered by a membrane. Gastroschisis is distinct from omphalocele (164750), which is characterized by herniation of abdominal contents through the base of the umbilical cord; in omphalocele, the visceral organs are covered by membranes (summary by Mastroiacovo et al., 2007). Both omphalocele and gastroschisis, when they occur without other malformations, are probably multifactorial (Baird and MacDonald, 1981).

A neural tube defect characterized by sac-like protrusions of the brain and the membranes that cover it through openings in the skull.

The presence of an abnormal lateral curvature of the spine.

An omphalocele is an abdominal wall defect limited to an open umbilical ring, and is characterized by the herniation of membrane-covered internal organs into the open base of the umbilical cord. Omphalocele is distinguished from gastroschisis (230750), in which the abdominal wall defect is located laterally to a normally closed umbilical ring with herniation of organs that are uncovered by membranes (summary by Bugge, 2010). On the basis of clinical manifestations, epidemiologic characteristics, and the presence of additional malformations, Yang et al. (1992) concluded that omphalocele and gastroschisis are casually and pathogenetically distinct abdominal wall defects. Omphalocele can be a feature of genetic disorders, such as Beckwith-Wiedemann syndrome (130650) and the Shprintzen-Goldberg syndrome (182210).

A morphological anomaly of the rib cage.

A developmental defect in the formation of pulmonary lobes.

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

A short discontinuity of the margin of the lower or upper eyelid.

A congenital malformation with a cleft (gap or opening) in the face.

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).