Disease Directory

Arthrogryposis multiplex congenita 7, X-linked is associated with variants in the THOC2 gene. However, the inheritance pattern for this condition has...

Arthrogryposis multiplex congenita-whistling face syndrome is an extremely rare condition that primarily affects joint mobility and facial structure....

Arthrogryposis syndrome is an extremely rare condition. Because few cases have been documented, detailed clinical information is limited.

Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development is a complex congenital condition that affects multiple systems...

Arthrogryposis, distal, IIa 11 is associated with variants in the MET gene and follows an autosomal dominant inheritance pattern. The clinical feature...

Arthrogryposis, distal, type 12 is an inherited condition primarily affecting the joints of the hands and feet, leading to congenital contractures and...

Arthrogryposis, distal, type 1A is a condition affecting the musculoskeletal system that primarily involves joint contractures in the distal parts of...

Arthrogryposis, distal, type 1B is a condition marked by congenital joint contractures that primarily affect the hands and feet. It falls within the s...

Arthrogryposis, distal, type 1C is a congenital condition characterized primarily by joint contractures that affect the distal parts of the limbs, inc...

Arthrogryposis, distal, type 2B2 (DA2B2) is characterized by congenital joint contractures, specifically talipes equinovarus, which is present in all...

Arthrogryposis, distal, type 2B3 is a condition that primarily affects the musculoskeletal system, leading to joint contractures and alterations in li...

arthrogryposis, distal, type 2B4 is an extremely rare condition. Because few cases have been documented, detailed clinical information is limited.

arthrogryposis, distal, type 2E is an extremely rare condition. Because few cases have been documented, detailed clinical information is limited.

Arthrogryposis, distal, with impaired proprioception and touch is a condition primarily affecting the muscles and joints, with a significant impact on...

Arthrogryposis, renal dysfunction, and cholestasis 1 is a multisystem condition that primarily affects the liver, kidneys, and musculoskeletal system....

Arthrogryposis, renal dysfunction, and cholestasis 2 is a multi-system condition that affects the liver, kidneys, and musculoskeletal system. The cond...

Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome, also called distal arthrogryposis type 5 (DA5), is a developmental condition t...

Arthrogryposis-ectodermal dysplasia-other anomalies syndrome is an extremely rare condition. Because few cases have been documented, detailed clinical...

Arthrogryposis-hyperkeratosis syndrome, lethal form is an extremely rare condition. Because few cases have been documented, detailed clinical informat...

Arthrogryposis-like hand anomaly-sensorineural deafness syndrome is characterized by atypical hand development that resembles arthrogryposis and senso...