ARTHROGRYPOSIS, CONGENITAL, LOWER LIMB, X-LINKED
General Information (adopted from Orphanet):
| Synonyms, Signs: |
ARTHROGRYPOSIS, X-LINKED, TYPE V, FORMERLY AMCX5, FORMERLY ACLLX |
| Number of Symptoms | 10 |
| OrphanetNr: | |
| OMIM Id: |
300158
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| ICD-10: |
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| UMLs: |
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| MeSH: |
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| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
X-linked recessive inheritance [Omim] |
| Age of onset: |
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Disease classification (adopted from Orphanet):
| Parent Diseases: | No data available. |
Symptom Information:
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(HPO:0001288) | Gait disturbance | 318 / 7739 | ||||
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(HPO:0006466) | Ankle contracture | 17 / 7739 | ||||
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(HPO:0006380) | Knee flexion contracture | 56 / 7739 | ||||
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(HPO:0001838) | Rocker bottom foot | 85 / 7739 | ||||
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(HPO:0001763) | Pes planus | 176 / 7739 | ||||
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(HPO:0003273) | Hip contracture | 30 / 7739 | ||||
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(HPO:0002804) | Arthrogryposis multiplex congenita | 93 / 7739 | ||||
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(OMIM) | Gait difficulties due to contractures of the lower limbs | 1 / 7739 | ||||
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(HPO:0001419) | X-linked recessive inheritance | 189 / 7739 | ||||
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(HPO:0003680) | Nonprogressive disorder | 23 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
| Clinical Description OMIM |
Zori et al. (1998) reported a 5-generation family in which multiple males were affected with a relatively mild form of nonprogressive arthrogryposis affecting only the lower limbs. All had involvement of the knee joint, with either a flexion ... |