Arthrogryposis multiplex congenita
| Arthrogryposis | |
|---|---|
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| Drawing of an infant with arthrogryposis | |
| Classification and external resources | |
| Specialty | medical genetics |
| ICD-10 | Q74.3 |
| ICD-9-CM | 728.3, 754.89 |
| OMIM | 108110 108120 208100 301830 601701 208200 108200 301830 208155 601680 108145 208085 |
| DiseasesDB | 31688 |
| eMedicine | ped/142 |
| MeSH | D001176 |
Arthrogryposis multiplex congenital (AMC), or simply arthrogryposes, describes congenital joint contracture in two or more areas of the body. It derives its name from Greek, literally meaning "curving of joints" (arthron, "joint"; grȳpōsis, late Latin form of late Greek grūpōsis, "hooking"). Children born with one or more joint contractures have abnormal fibrosis of the muscle tissue causing muscle shortening, and therefore are unable to perform active extension and flexion in the affected joint or joints. AMC has been divided into three groups: amyoplasia, distal arthrogryposis, and syndromic. Amyoplasia is characterized by severe joint contractures and muscle weakness. Distal arthrogryposis mainly involves the hands and feet. Types of arthrogryposis with a primary neurological or muscle disease belong to the syndromic group.
Almost every joint in a patient with arthrogryposis is often affected; in 84% all limbs are involved, in 11% only the legs, and in 4% only the arms are involved. Every joint in the body has typical signs and symptoms like the shoulder (internal rotation), wrist (volar and ulnar), hand (fingers in fixed flexion and thumb in palm), hip (flexed, abducted and externally rotated, frequently dislocated), elbow (extension and pronation) and foot (clubfoot). The range of motion capability can be different between joints because of the different deviations. Some types of arthrogryposis like amyoplasia have a symmetrical joint/limb involvement, with normal sensations. The contractures in the joints are sometimes resulting in a reduced walking development in the first 5 years. The intelligence is normal to above normal in children with amyoplasia. But it is unknown how many of these children have an above normal intelligence and there is no literature available about the cause of this syndrome. There are a few syndromes like the Freeman-Sheldon and Gordon syndrome, which have craniofacial involvement. The amyoplasia form of arthrogryposis is sometimes accompanied with a midline facial hemangioma. Arthrogryposis is not a diagnosis but a clinical finding. So this disease is often accompanied with other syndromes or diseases. These other diagnoses can be found in every single organ in a patient. There are a few slightly more common diagnoses such as pulmonary hypoplasia, cryptorchidism, congenital heart defects, tracheoesophageal fistulas, inguinal hernias, cleft palate, and eye abnormalities.
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