Distal arthrogryposis type 3 (Q104860): Difference between revisions
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A artrogripose distal tipo 3 (também conhecida como Síndrome de Gordon) é uma doença genética extremamente rara que se caracteriza pela combinação de camptodactilia (uma fixação permanente de vários dedos em uma posição flexionada), pé torto ou talipes (flexão anormal do pé para dentro) e, em 25% dos pacientes, fenda palatina. A inteligência é normal, mas, em alguns casos, anormalidades adicionais (por exemplo, escoliose e criptorquidia) também podem estar presentes. | |||
| description / en | description / en | ||
Distal arthrogryposis type 3 (aka Gordon Syndrome) is an extremely rare genetic disorder that is characterised by the combination of camptodactyly (a permanent fixation of several fingers in a flexed position), clubfoot or talipes (abnormal bending inward of the foot), and, in 25 % of patients, cleft palate. Intelligence is normal but in some cases, additional abnormalities (for example, scoliosis and cryptorchidism) may also be present. | |||
Revision as of 10:43, 17 August 2026
Distal arthrogryposis type 3 (aka Gordon Syndrome) is an extremely rare genetic disorder that is characterised by the combination of camptodactyly (a permanent fixation of several fingers in a flexed position), clubfoot or talipes (abnormal bending inward of the foot), and, in 25 % of patients, cleft palate. Intelligence is normal but in some cases, additional abnormalities (for example, scoliosis and cryptorchidism) may also be present.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_1444357813 |
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| English | Distal arthrogryposis type 3 |
Distal arthrogryposis type 3 (aka Gordon Syndrome) is an extremely rare genetic disorder that is characterised by the combination of camptodactyly (a permanent fixation of several fingers in a flexed position), clubfoot or talipes (abnormal bending inward of the foot), and, in 25 % of patients, cleft palate. Intelligence is normal but in some cases, additional abnormalities (for example, scoliosis and cryptorchidism) may also be present. |
