Distal arthrogryposis type 10
General Information (adopted from Orphanet):
| Synonyms, Signs: |
TENDO CALCANEUS, SHORT CONGENITAL PLANTAR CONTRACTURES DA10 Short tendo calcaneus Plantar flexion contracture |
| Number of Symptoms | 12 |
| OrphanetNr: | 251515 |
| OMIM Id: |
187370
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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: |
Autosomal dominant [Orphanet] |
| Age of onset: |
Neonatal Infancy [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Distal arthrogryposis
-Rare developmental defect during embryogenesis |
Symptom Information:
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(HPO:0003089) | Hamstring contractures | 2 / 7739 | ||||
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(HPO:0100490) | Camptodactyly of finger | 212 / 7739 | ||||
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(HPO:0005684) | Distal arthrogryposis | 31 / 7739 | ||||
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(HPO:0008112) | Plantar flexion contractures | 1 / 7739 | ||||
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(HPO:0002987) | Elbow flexion contracture | 64 / 7739 | ||||
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(HPO:0001239) | Wrist flexion contracture | 13 / 7739 | ||||
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(HPO:0002804) | Arthrogryposis multiplex congenita | 93 / 7739 | ||||
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(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 | ||||
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(HPO:0011463) | Childhood onset | 65 / 7739 | ||||
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(HPO:0003828) | Variable expressivity | 130 / 7739 | ||||
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(HPO:0040083) | Toe walking | 15 / 7739 | ||||
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(OMIM) | Normal serum creatine kinase | 12 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
| Clinical Description OMIM |
Hall et al. (1967) reported 33 cases of congenital short tendo calcaneus causing those affected to walk on their toes. There was no evidence in these cases for any underlying neuromuscular disease. Familial occurrence was noted in several ... |