Introduction

Talipes equinovarus (clubfoot) is an abnormality of the foot position. It may be positional, congenital (isolated), or part of a syndrome. Clubfoot resulting from in utero positional forces, as may occur with prolonged severe oligohydramnios, multiple gestation, or breech presentation, is not a “true” clubfoot in that the deformity can usually be corrected by manual manipulation of the foot.

Disease

Definition

Clubfoot is a foot malformation in which the foot is fixed in a plantar-flexed position, and the sole is rotated inward. The deformity may be unilateral or bilateral and affects the bony, muscular, and ligamentous structures. Manual manipulation of the extremity does not correct the defect.

Prevalence and Epidemiology

Clubfoot occurs in approximately 1 : 1000 to 3 : 1000 pregnancies and is more common in males (2 : 1 male-to-female ratio). Frequency varies by ethnicity; it appears to be less common in Asians (0.5 : 1000) and more common in Polynesians and in the Maoris of New Zealand (6 : 1000 to 7 : 1000).

Etiology and Pathophysiology

Most cases of clubfoot are isolated and idiopathic in nature and are not associated with other structural or genetic abnormalities. Clubfoot is commonly classified according to intrinsic or extrinsic causes. Intrinsic causes of clubfoot include genetic disorders, neuromuscular diseases, and other syndromes ( Table 64.1 ). Extrinsic causes are external forces that deform an otherwise normally developing foot ( Table 64.2 ). This chapter focuses on intrinsic causes of clubfoot.

TABLE 64.1
INTRINSIC CAUSES OF CLUBFOOT
CHROMOSOME ABNORMALITIES
  • Autosomal trisomy (i.e., trisomy 18)

  • Triploidy

  • Sex chromosome abnormalities (i.e., 47,XXY, 47,XXX, 47,XYY)

  • Microdeletion/duplication (i.e., dup[3q])

GENETIC SYNDROMES
  • Pena-Shokeir syndrome

  • Meckel-Gruber syndrome

  • Smith-Lemli-Opitz syndrome

  • Larsen syndrome

  • Roberts syndrome

  • TARP syndrome

  • Lambert syndrome

SKELETAL DYSPLASIA
  • Camptomelic dysplasia

  • Chondrodysplasia punctata

  • Diastrophic dysplasia

  • Ellis-van Creveld syndrome

  • Atelosteogenesis

  • Nievergelt syndrome (mesomelic dysplasia)

NEUROMUSCULAR DISORDERS
  • Arthrogryposis congenita

  • Myotonic dystrophy

  • Spinal muscular atrophy

NEUROLOGIC ABNORMALITIES
  • Neural tube defect

  • Holoprosencephaly

  • Hydranencephaly

TARP, T alipes equinovarus, a trial septal defect, R obin sequence, and p ersistent left superior vena cava.

TABLE 64.2
EXTRINSIC CAUSES OF CLUBFOOT
  • Oligohydramnios

  • Breech position

  • Multiple gestation

  • Fibroid uterus

  • Amniotic bands

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