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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Arthrogryposis multiplex congenita


Other Names for this Disease
  • AMC
  • Amyoplasia congenita
  • Arthrogryposis
  • Arthromyodysplasia congenita
  • Congenital amyoplasia
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Symptoms

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What are the signs and symptoms of Arthrogryposis multiplex congenita?

Arthrogryposis multiplex congenita (AMC) refers to the development of multiple joint contractures affecting two or more areas of the body prior to birth. A contracture occurs when a joint becomes permanently fixed in a bent or straightened position, which can impact the function and range of motion of the joint.[1][2] In some cases, only a few joints are affected and the range of motion may be nearly normal. In people who are severely affected, every joint in the body can be involved, including the jaw and back.[3] Muscles of affected limbs may be atrophied or underdeveloped. Soft tissue webbing may develop over the affected joint.[1][2]

AMC is not a specific diagnosis, but rather a physical symptom that can be found in many different medical conditions. The signs and symptoms associated with AMC can, therefore, vary greatly in range and severity depending on the underlying condition.[1][2]
Last updated: 1/12/2015

The Human Phenotype Ontology provides the following list of signs and symptoms for Arthrogryposis multiplex congenita. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms.

Signs and Symptoms Approximate number of patients (when available)
Abnormality of the gastric mucosa 90%
Abnormality of the hip bone 90%
Abnormality of the pleura 90%
Abnormality of the wrist 90%
Aplasia/Hypoplasia of the lungs 90%
Congenital diaphragmatic hernia 90%
Depressed nasal ridge 90%
Low-set, posteriorly rotated ears 90%
Lymphedema 90%
Polyhydramnios 90%
Scoliosis 90%
Talipes 90%
Ulnar deviation of finger 90%
Amniotic constriction ring -
Anteverted nares -
Breech presentation -
Cryptorchidism -
Decreased fetal movement -
Down-sloping shoulders -
Facial asymmetry -
Facial midline hemangioma -
Gastroschisis -
Hip dislocation -
Hypoplastic biceps -
Internally rotated shoulders -
Interphalangeal joint contracture of finger -
Jejunal atresia -
Labial hypoplasia -
Metacarpophalangeal joint contracture -
Micrognathia -
Patellar aplasia -
Pterygium -
Round face -
Scrotal hypoplasia -
Short finger -
Sporadic -
Tapered finger -
Torticollis -

Last updated: 5/1/2015

The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature.

The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined.

Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


References
  1. Arthrogryposis Multiplex Congenita. NORD. February 2013; http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/211/viewAbstract.
  2. Harold Chen, MD, MS, FAAP, FACMG. Arthrogryposis. Medscape Reference. February 2013; http://emedicine.medscape.com/article/941917-overview.
  3. Arthrogryposis: What it is and how it is treated. A National Support Group for Arthrogryposis Multiplex Congenita (AVENUES). http://www.avenuesforamc.com/publications/pamphlet.htm. Accessed 10/15/2013.


Other Names for this Disease
  • AMC
  • Amyoplasia congenita
  • Arthrogryposis
  • Arthromyodysplasia congenita
  • Congenital amyoplasia
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.