Arthrogryposis

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Chapter 674 Arthrogryposis

Definition

Arthrogryposis multiplex congenita (AMC) is a congenital anomaly in the newborn involving multiple curved joints (see Fig. 674-1 on the Nelson Textbook of Pediatrics website at www.expertconsult.com image). Arthrogryposis is a descriptive term and not an exact diagnosis, as there are as many as 300 possible underlying causes.

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Figure 674-1 Arthrogryposis multiplex congenita. A 32-wk premature boy with severe multiple congenital contractures and severe congenital neuropathy.

(From Hosalkar HS, Moroz L, Drummond DS, et al: Neuromuscular disorders of infancy and childhood and arthrogryposis. In Dormans J, editor: Pediatric orthopedics: core knowledge in orthopedics, Philadelphia, 2005, Mosby, pp 454–482.)

The incidence of classic AMC is approximately 1/3,000 live births, and the three main groups include classic AMC, in which the limbs are primarily involved and the muscles are deficient or absent (amyoplasia) (Fig. 674-2); arthrogryposis in association with major neurogenic (brain, spinal cord, anterior horn cell, or peripheral nerve) or myopathic (congenital muscular dystrophy, myopathy, toxic myopathy) dysfunction; and arthrogryposis in association with other major anomalies and specific syndromes such as diastrophic dysplasia and craniocarpotarsal dystrophy (Table 674-1).

Table 674-1 ASSOCIATED ETIOLOGIES OF ARTHROGRYPOSIS

ARTHROGRYPOSIS DUE TO NERVOUS SYSTEM DISORDERS

DISTAL ARTHROGRYPOSIS SYNDROMES

PTERYGIUM SYNDROMES

MYOPATHIES

ABNORMALITIES OF JOINTS AND CONTIGUOUS TISSUE

SKELETAL DISORDERS

INTRAUTERINE AND MATERNAL FACTORS

MISCELLANEOUS

SINGLE JOINT

Modified from Mennen U, Van Heest A, Ezaki MB: Arthrogryposis multiplex congenita, J Hand Surg [Br] 30:468–474, 2005.

Clinical Features

Multiple rigid joint deformities are present with defective muscles and normal sensation. There is rigidity of several joints in each case, resulting from both short tight muscles and capsular contractures. Pterygium may be present on the flexor aspects of contracted joints (Fig. 674-3). There is often an absence or fibrosis of muscles or muscle groups. There is normal intellectual development in most cases. All four limbs are involved in the classic form (AMC), but the condition can also occur in the upper or lower limbs. An autosomal dominant variant called distal arthrogryposis involves the hands and feet with severe deformation but with only minor contractures more proximally; scoliosis is a possible development. To date, 10 different distal arthrogryposes have been described. They are classified according to the proportion of features they share (Table 674-2). In addition to the multiple joint contractures, the lack of skin creases (cylindrical or tubular limbs) and deep dimples over the joints are very characteristic (Fig. 674-4). There is dislocation of joints, most commonly the hip but occasionally the knee; the trunk is rarely affected. Other congenital anomalies such as cryptorchidism, hernias, and gastroschisis can occur.

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Figure 674-3 Fixed flexion of the knees in a boy with arthrogryposis multiplex congenita.

(From Hosalkar HS, Moroz L, Drummond DS, et al: Neuromuscular disorders of infancy and childhood and arthrogryposis. In Dormans J, editor: Pediatric orthopedics: core knowledge in orthopedics, Philadelphia, 2005, Mosby, pp 454–482.)

Table 674-2 CURRENT LABELS AND OMIM NUMBERS FOR THE DISTAL ARTHROGRYPOSIS SYNDROMES

SYNDROME NEW LABEL OMIM NUMBER
Distal arthrogryposis type 1 DA1 108120
Distal arthrogryposis type 2A (Freeman-Sheldon syndrome) DA2A 193700
Distal arthrogryposis type 2B (Sheldon-Hall syndrome) DA2B 601680
Distal arthrogryposis type 3 (Gordon syndrome) DA3 114300
Distal arthrogryposis type 4 (scoliosis) DA4 609128
Distal arthrogryposis type 5 (ophthalmoplegia, ptosis) DA5 108145
Distal arthrogryposis type 6 (sensorineural hearing loss) DA6 108200
Distal arthrogryposis type 7 (trismus-pseudocamptodactyly) DA7 158300
Distal arthrogryposis type 8 (autosomal dominant multiple pterygium syndrome) DA8 178110
Distal arthrogryposis type 9 (congenital contractural arachnodactyly) DA9 121050
Distal arthrogryposis type 10 (congenital plantar contractures) DA10 187370

OMIM, Online Mendelian Inheritance in Man.

From Bamshad M, Van Heest AE, Pleasure D: Arthrogryposis: a review and update, J Bone Joint Surg Am 91 Suppl 4:40–46, 2009.

image

Figure 674-4 Characteristic lack of skin creases and tubular limbs.

(From Hosalkar HS, Moroz L, Drummond DS, et al: Neuromuscular disorders of infancy and childhood and arthrogryposis. In Dormans J, editor: Pediatric orthopedics: core knowledge in orthopedics, Philadelphia, 2005, Mosby, pp 454–482.)

Etiology

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