Crossed polysyndactyly
General Information (adopted from Orphanet):
Synonyms, Signs: |
Crossed polydactyly |
Number of Symptoms | 11 |
OrphanetNr: | 2935 |
OMIM Id: |
175690
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ICD-10: |
Q70.4 |
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: |
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Age of onset: |
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Disease classification (adopted from Orphanet):
Parent Diseases: |
Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy
-Rare bone disease -Rare developmental defect during embryogenesis |
Symptom Information:
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(HPO:0000054) | Micropenis | Occasional [Orphanet] | 257 / 7739 | |||
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(HPO:0005280) | Depressed nasal bridge | Occasional [Orphanet] | 381 / 7739 | |||
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(HPO:0000582) | Upslanted palpebral fissure | Occasional [Orphanet] | 185 / 7739 | |||
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(HPO:0000288) | Abnormality of the philtrum | Occasional [Orphanet] | 54 / 7739 | |||
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(HPO:0000486) | Strabismus | Occasional [Orphanet] | 576 / 7739 | |||
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(HPO:0008772) | Aplasia/Hypoplasia of the external ear | Occasional [Orphanet] | 67 / 7739 | |||
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(HPO:0000598) | Abnormality of the ear | Occasional [Orphanet] | 98 / 7739 | |||
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(HPO:0006101) | Finger syndactyly | Very frequent [Orphanet] | 198 / 7739 | |||
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(HPO:0001162) | Postaxial hand polydactyly | Very frequent [Orphanet] | 119 / 7739 | |||
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(HPO:0009601) | Aplasia/Hypoplasia of the thumb | Occasional [Orphanet] | 80 / 7739 | |||
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(HPO:0007477) | Abnormal dermatoglyphics | Frequent [Orphanet] | 72 / 7739 |
Associated genes:
ClinVar (via SNiPA)
Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
Clinical Description OMIM |
Goldstein et al. (1994) observed a distinct form of 'crossed' polysyndactyly in 6 generations of a family. The anomaly was transmitted from father to son through 3 generations, and a great-grandfather of the first of these 3 and ... |