Arthrogryposis Multiplex Congenita Health Article

Signs and symptoms

The four syndromes that include arthrogryposis as a set of symptoms are cerebrooculofacioskeletal syndrome, adducted thumb-clubfoot syndrome, Saethre-Chotzen syndrome, and arthropathy-camptodactylypericarditis syndrome. Cerebrooculofacioskeletal (COFS) syndrome is characterized by an abnormally small head (microcephaly), a lack of muscle tone (hypotonia), eye defects, abnormally large ears and nose, a receding chin (micrognathia), and kyphoscoliosis. Adducted thumb-clubfoot syndrome is characterized by clubfoot (equinovarus talipes), clasped (adducted) thumbs, abnormally long fingers and toes (arachnodactyly), a prominent forehead, and psychomotor delay. Saethre-Chotzen syndrome is characterized by flattened facial features, wide set eyes (hypertelorism), abnormalities of the skull (craniosynostosis), abnormalities of the eyes, partially fused fingers or toes (syndactyly), congenital heart defects, and contractures of the elbows and knees. Arthropathy-camptodactyly-pericarditis syndrome is characterized by contractures of the elbows, wrists, and fingers; an abnormally elevated generalized stiffness upon waking; arthritis of the hips, shoulders, elbows, and knees; and, inflammation of the membranous sac that protects the heart (pericarditis).

The other forms of AMC include three relatively common forms: X-linked arthrogryposis, neurogenic arthrogryposis, amyoplasia; and four extremely rare forms that may or may not represent distinct disorders: spondylospinal thoracic dysostosis, Jarcho-Levin syndrome, prenatal growth retardation with pelvic hypolasia and arthrogryposis in the lower limbs, and lethal congenital contracture syndrome.

X-linked arthrogryposis is generally mild and affects only the legs. Neurogenic arthrogryposis is also relatively mild and affects only the elbows and the knees. Amyoplasia is the mildest form of arthrogryposis; it is generally sporadic in appearance. Amyoplasia is characterized by contractures of the wrists, elbows, and knees; club feet, and an abnormal internal rotation of the shoulders.

Spondylospinal thoracic dysostosis is characterized by a short, curved spine; a short neck; malformations of the bones of the mouth; abnormal ribs; and congenital heart defects. Jarcho-Levin syndrome is characterized by many of the same characteristics of spondylospinal thoracic dysostosis. These two disorders differ only in the presence of a fusion of certain spinal vertebrae in spondylospinal thoracic dysostosis that has not been observed in Jarcho-Levin syndrome. Prenatal growth retardation with pelvic hypoplasia and arthrogryposis in the lower limbs has only been described in a pair of sisters and four males and one female, all of whom were siblings. It seems likely that this disorder is one of the distal arthrogryposes. Lethal congenital contracture syndrome almost inevitably leads to prenatal death prior to week 32 of gestation. It appears to be a unique variant of AMC.