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Arthrogryposis
Persistent flexure or contracture of a joint.
Year introduced: 1965(1963)
Distal arthrogryposis type 2B [Supplementary Concept]
Date introduced: November 13, 2010
Arthrogryposis multiplex congenita, distal type 1 [Supplementary Concept]
Date introduced: August 25, 2010
Gordon syndrome [Supplementary Concept]
Pelvic dysplasia arthrogryposis of lower limbs [Supplementary Concept]
Arthrogryposis renal dysfunction cholestasis syndrome [Supplementary Concept]
A hereditary autosomal recessive disorder characterized by FAILURE TO THRIVE, arthrogryposis, MICROCEPHALY; MICROGNATHIA, cholestasis, renal insufficiency and LIVER DISEASES. Structural cardiac defects may also be present but are uncommon. Death usually occurs in infancy. Mutations in the VPS33B gene have been identified. OMIM: 208085
Arthrogryposis, Distal, Type 4 [Supplementary Concept]
Date introduced: November 5, 2012
Arthrogryposis multiplex congenita whistling face [Supplementary Concept]
Oculomelic amyoplasia [Supplementary Concept]
Minicore myopathy, antenatal onset, with arthrogryposis [Supplementary Concept]
Pena Shokeir syndrome, type 1 [Supplementary Concept]
A clinically and genetically heterogeneous constellation of congenital abnormalities that include fetal akinesia, intrauterine growth retardation, arthrogryposis, lung hypoplasia, CLEFT PALATE; and CRYPTORCHIDISM. It is associated with mutations in the DOK7, MUSK, and RAPSN genes. OMIM: 208150
Arthrogryposis epileptic seizures migrational brain disorder [Supplementary Concept]
Arthrogryposis and ectodermal dysplasia [Supplementary Concept]
Arthrogryposis multiplex congenita neurogenic type [Supplementary Concept]
Neuropathy, congenital, with arthrogryposis multiplex [Supplementary Concept]
Freeman-Sheldon syndrome [Supplementary Concept]
An autosomal dominant craniofacial dystosis that is phenotypically similar to Distal Arthrogryposis Type 1 (OMIM: 108120). In addition to CONTRACTURES of the hands and feet, it is characterized by oropharyngeal abnormalities, SCOLIOSIS, and a distinctive FACIES that includes a very small oral orifice (often only a few millimeters in diameter at birth), puckered lips, and an H-shaped dimple of the chin; hence, FSS has been called 'whistling face syndrome.' Mutations in the MYH3 gene have been identified. OMIM: 193700
Arthrogryposis-like hand anomaly and sensorineural deafness [Supplementary Concept]
Arthrogryposis multiplex congenita, distal, X-linked [Supplementary Concept]
Arthrogryposis multiplex congenita, distal type 2 [Supplementary Concept]
Lethal Arthrogryposis With Anterior Horn Cell Disease [Supplementary Concept]
aka LAAHD; mutations in GLE1