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ASCC1
No data
- Entity Type
- Diseases
- Relation Groups
- 1
- Relation Preview
- 8
Basic Information
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Core Information
- Disease Name
- Arthrogryposis
- Standard Disease Name
- arthrogryposis
- MeSH Tree
- No data
- ICD-10
- Q74.3
Identifiers
- DO ID
- No data
- MeSH ID
- D001176
- OMIM ID
- MTHU033304|MTHU009867|MTHU023157|MTHU029230|MTHU003213|MTHU006125
- UMLS ID
- C0003886
- HPO ID
- No data
Description and Extensions
- Description
- NCI2016_02D:A rare, non-progressive congenital disorder characterized by multiple joint contractures which are present at birth.|MSH2017_2016_08_12:Persistent flexure or contracture of a joint.|JABL99:Arthrogryposis marked by congenital contractures involving two or more different joints with ankylosis, hypoplasia of the attached musculature, and multiple pterygia. Several types are recognized: Myopathic type is relatively rare and is characterized by muscle changes with fixed flexion deformities of the limbs and gross deformities of the chest and spine. Nuropathic type presents fixed extension or flexion deformities of the limbs. Distal type affects the distal portions of the extremities. Distal arthrogryposis is further divided into two types: At least 3 varies of X-linked distal arthrogryposis are recognized: 1. Lethal form with severe contractures, scoliosis, chest deformities, micrognathia, and death by age of 3 months. Psychomotor retardation may occur. 2. A mild to moderate forms with blepharoptosis, microphallus, cryptorchidism, inguinal hernia, and normal intelligence. 3. A sporadic form with mild symptoms which gradually improve, which is manifested main by moderate contractures and normal intelligence. Type I involves primarily the distal parts of the hands and feet and is characterized by overlapping fingers, clenched fists, ulnar deviation of the fingers, camptodactyly, positional foot anomalies, and generally normal intelligence. Type II is divided into several subtypes and, in addition to arthrogryposis, has a variety of associated findings, including short stature, cleft lip and/or palate, scoliosis, trismus, and dull intellect.|HPO2016_07_04:A non-progressive finding characterized by multiple joint contractures found throughout the body at birth. [HPO:probinson]
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