TREATMENTS &
RESEARCH

Search the
latest
treatment
information
here.

Dr. Huntley's
Diagnosis
Checklist

Have a symptom?
See what questions
a doctor would ask.

Next Prev

Diseases » Arthrogryposis » Glossary

Glossary for Arthrogryposis

Adducted thumbs - arthrogryposis, Christian type: A rare recessively inherited disorder characterized mainly by a small head, arthrogryposis (joint contractures), cleft palate and various other abnormalities.
Amyoplasia: A rare condition characterized by congenital joint stiffness.
Ankylosis - facial anomalies - pulmonary hypoplasia syndrome: A rare familial syndrome characterized mainly by fused or stiff joints, facial anomalies and underdeveloped lungs.
Arthrogryposis: A rare congenital disorder characterized by reduced mobility of joints due to the build up of fibrous tissue in the joint.
Arthrogryposis, congenital - myopathic seizures: A rare syndrome characterized by mental retardation and muscle problems.
Bruck syndrome: A very rare syndrome characterized primarily by weak, brittle bones and abnormal knee, ankle and foot joints (congenital contractures) at birth. There are two different subtypes of the disorder, each with a different genetic defect origin.
Christian's syndrome 1: A rare recessively inherited syndrome characterized by premature skull fusion, cleft palate, permanently flexed fingers and various other anomalies.
Chromosome 21 monosomy: A rare chromosomal disorder where there is only one copy of chromosome 21 instead of the normal two leading to various abnormalities.
Chromosome 9p tetrasomy syndrome: A rare chromosomal disorder where there is four copies of the short arm of chromosome 9 instead of the normal two resulting in various abnormalities.
Craniosynostosis cleft lip palate arthrogryposis: A rare condition characterized mainly by the association of premature fusion of skull bones (craniosynostosis), cleft lip and/or palate and arthrogryposis.
Facies unusual arthrogryposis advanced skeletal malformations: A very rare fatal malformation characterized by an unusual facial appearance, arthrogryposis, advanced bone age of the hips and abnormal X-rays of the skeleton.
Freeman-Sheldon Syndrome: A very rare genetic disorder characterized by abnormal development of the skeleton and muscles.
Gaucher disease - perinatal lethal form: A rare syndrome characterized by the association of abnormally tight skin and Gaucher disease which is a lipid storage disease. This is the most severe form of Gaucher disease.
Gordon Syndrome: A genetic musculoskeletal disorder characterized mainly by camptodactyly, cleft palate and club foot. The type and severity of symptoms is variable.
Lissencephaly type III - metacarpal bone dysplasia: A rare syndrome characterized by an abnormally smooth brain as well as abnormal bone development in the hands.
Mobius syndrome: Type of facial paralysis.
Multiple congenital contractures: A rare genetic disorder characterized by the abnormal permanent contraction of more than one muscle that occurs from birth. The muscle contraction affects the movement of the affected body part.
Multiple pterygium syndrome: A very rare disorder characterized by webbing of various parts of the body, contractures, short stature, fusion of neck vertebrae and facial anomalies.
Muscle paralysis: The inability to use a muscle
Overgrowth radial ray defect arthrogryposis: A rare condition characterized mainly by the association of arthrogryposis, excessive growth and arm and hand defects.
Penicillamine, D - Teratogenic Agent: There is evidence to indicate that exposure to Penicillamine, D during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
Perinatal-lethal Gaucher disease: A disorder caused by a deficiency of an enzyme called glucocerebrosidase. The foetal form is one of several forms of Gaucher disease and is the rarest. The fetal form causes death before birth or soon after.
Podder-Tolmie syndrome: A rare syndrome characterized mainly by athtrogryposis, underdeveloped thumbs and meningoencephalocele.
Propoxyphene - Teratogenic Agent: There is evidence to indicate that exposure to Propoxyphene during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
Rheumatic conditions: Any condition that affects ones joints
Scoliosis: Sideways curvature of the spine
Skeletal dysplasia - mental retardation: A rare recessively inherited disorder characterized mainly by mental retardation, a small head, arthrogryposis (joint contractures), cleft palate and various other abnormalities.
Spinal Muscular Atrophy: A rare condition characterized by progressive degeneration of the spinal and brainstem motor neurons. During fetal development excess primary neurons are formed. The body automatically destroys the extra primary neurons so that only some survive and mature into neurons. In spinal muscular dystrophy, the process that destroys the excess primary neurons doesn't switch off and continues destroying the neurons resulting in progressive motor problems. Various types of the condition range from mild to severe enough to cause death within a couple of years of birth.
Spranger-Schinzel-Myers syndrome: A very rare syndrome characterized by brain malformation, underdeveloped fingers and bone abnormalities. It is believed to be possibly caused by exposure to ergotamine and diazoxide which may be teratogenic.
Trisomy 6 mosaicism: A very rare chromosomal disorder where there is an extra copy of chromosome 6 in some of the body's cells. Some cases with this chromosomal abnormality have no clinical symptoms. The presence of abnormalities in some cases is dependent on which body cells contain the chromosomal defect.