Sillence syndrome
General Information (adopted from Orphanet):
| Synonyms, Signs: |
Brachydactyly-symphalangism syndrome |
| Number of Symptoms | 29 |
| OrphanetNr: | 3168 |
| OMIM Id: |
113450
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| ICD-10: |
Q74.8 |
| UMLs: |
C1862092 |
| MeSH: |
C537338 |
| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | 5 cases [Orphanet] |
| Inheritance: |
Autosomal dominant [Orphanet] |
| Age of onset: |
Neonatal Infancy [Orphanet] |
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:0000286) | Epicanthus | Frequent [Orphanet] | 371 / 7739 | |||
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(HPO:0000275) | Narrow face | Occasional [Orphanet] | 76 / 7739 | |||
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(HPO:0012385) | Camptodactyly | 113 / 7739 | ||||
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(HPO:0011867) | Abnormality of the wing of the ilium | Frequent [Orphanet] | 123 / 7739 | |||
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(HPO:0001761) | Pes cavus | 225 / 7739 | ||||
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(HPO:0000954) | Single transverse palmar crease | Frequent [Orphanet] | 162 / 7739 | |||
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(HPO:0006170) | Chess-pawn distal phalanges | 1 / 7739 | ||||
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(HPO:0003172) | Abnormality of the pubic bone | 5 / 7739 | ||||
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(HPO:0004279) | Short palm | Very frequent [Orphanet] | 323 / 7739 | |||
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(HPO:0001155) | Abnormality of the hand | Very frequent [Orphanet] | 54 / 7739 | |||
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(HPO:0010034) | Short 1st metacarpal | 19 / 7739 | ||||
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(HPO:0100490) | Camptodactyly of finger | Very frequent [Orphanet] | 212 / 7739 | |||
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(HPO:0003180) | Flat acetabular roof | 25 / 7739 | ||||
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(HPO:0001769) | Broad foot | 31 / 7739 | ||||
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(HPO:0002944) | Thoracolumbar scoliosis | 13 / 7739 | ||||
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(HPO:0009371) | Type A1 brachydactyly | 2 / 7739 | ||||
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(HPO:0002868) | Narrow iliac wings | 15 / 7739 | ||||
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(HPO:0002650) | Scoliosis | Very frequent [Orphanet] | 705 / 7739 | |||
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(HPO:0001204) | Distal symphalangism of hands | 13 / 7739 | ||||
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(HPO:0100263) | Distal symphalangism | 5 / 7739 | ||||
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(HPO:0001172) | Abnormality of the thumb | Very frequent [Orphanet] | 103 / 7739 | |||
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(HPO:0002644) | Abnormality of pelvic girdle bone morphology | 31 / 7739 | ||||
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(HPO:0007598) | Bilateral single transverse palmar creases | 13 / 7739 | ||||
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(HPO:0010239) | Aplasia of the middle phalanx of the hand | 3 / 7739 | ||||
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(HPO:0000098) | Tall stature | Very frequent [Orphanet] | 74 / 7739 | |||
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(HPO:0001804) | Hypoplastic fingernail | Frequent [Orphanet] | 62 / 7739 | |||
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(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 | ||||
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(OMIM) | Normal to tall stature | 3 / 7739 | ||||
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(OMIM) | Ovoid pelvis | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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