Autosomal dominant multiple pterygium syndrome
General Information (adopted from Orphanet):
| Synonyms, Signs: |
MULTIPLE PTERYGIUM SYNDROME, AUTOSOMAL DOMINANT PTERYGIUM SYNDROME, MULTIPLE, AUTOSOMAL DOMINANT DA8 Distal arthrogryposis type 8 |
| Number of Symptoms | 18 |
| OrphanetNr: | 65743 |
| OMIM Id: |
178110
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| ICD-10: |
Q79.8 |
| 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: | 4 cases [Orphanet] |
| Inheritance: |
Autosomal dominant [Orphanet] |
| Age of onset: |
Childhood [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Genetic dermis disorder
-Rare genetic disease Multiple pterygium syndrome -Rare developmental defect during embryogenesis |
Symptom Information:
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(HPO:0001363) | Craniosynostosis | rare [HPO:skoehler] | 132 / 7739 | |||
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(HPO:0000470) | Short neck | 345 / 7739 | ||||
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(HPO:0000175) | Cleft palate | rare [HPO:skoehler] | 349 / 7739 | |||
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(HPO:0000494) | Downslanted palpebral fissures | 328 / 7739 | ||||
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(HPO:0000508) | Ptosis | 459 / 7739 | ||||
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(HPO:0000368) | Low-set, posteriorly rotated ears | 38 / 7739 | ||||
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(HPO:0003302) | Spondylolisthesis | rare [HPO:skoehler] | 14 / 7739 | |||
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(HPO:0001040) | Multiple pterygia | 5 / 7739 | ||||
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(HPO:0002937) | Hemivertebrae | 41 / 7739 | ||||
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(HPO:0002948) | Vertebral fusion | 28 / 7739 | ||||
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(HPO:0003273) | Hip contracture | rare [HPO:skoehler] | 30 / 7739 | |||
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(HPO:0002987) | Elbow flexion contracture | 64 / 7739 | ||||
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(HPO:0002804) | Arthrogryposis multiplex congenita | 93 / 7739 | ||||
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(HPO:0012385) | Camptodactyly | 113 / 7739 | ||||
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(HPO:0006380) | Knee flexion contracture | 56 / 7739 | ||||
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(HPO:0002650) | Scoliosis | 705 / 7739 | ||||
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(HPO:0004322) | Short stature | 1232 / 7739 | ||||
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(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
| Clinical Description OMIM |
McKeown and Harris (1988) described a multiple pterygium syndrome in 3 children and their mother. Great variability in severity was observed among the affected subjects. Ptosis and severe scoliosis due to hemivertebrae were present in some. Similarities to ... |