Robin sequence - oligodactyly
General Information (adopted from Orphanet):
| Synonyms, Signs: |
ROBIN SEQUENCE AND OLIGODACTYLY Pierre Robin sequence - oligodactyly |
| Number of Symptoms | 17 |
| OrphanetNr: | 3104 |
| OMIM Id: |
172880
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| ICD-10: |
Q87.0 |
| UMLs: |
C1868309 |
| MeSH: |
C535688 |
| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Autosomal dominant inheritance [Omim] |
| Age of onset: |
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Disease classification (adopted from Orphanet):
| Parent Diseases: |
Orofacial clefting syndrome
-Rare developmental defect during embryogenesis -Rare genetic disease -Rare maxillo-facial surgical disease -Rare otorhinolaryngologic disease |
Symptom Information:
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(HPO:0000164) | Abnormality of the teeth | Frequent [Orphanet] | 291 / 7739 | |||
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(HPO:0000174) | Abnormality of the palate | Frequent [Orphanet] | 298 / 7739 | |||
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(HPO:0000277) | Abnormality of the mandible | Very frequent [Orphanet] | 394 / 7739 | |||
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(HPO:0000201) | Pierre-Robin sequence | 20 / 7739 | ||||
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(HPO:0000175) | Cleft palate | 349 / 7739 | ||||
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(HPO:0000275) | Narrow face | Frequent [Orphanet] | 76 / 7739 | |||
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(HPO:0000347) | Micrognathia | 426 / 7739 | ||||
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(HPO:0000162) | Glossoptosis | Very frequent [Orphanet] | 26 / 7739 | |||
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(HPO:0012165) | Oligodactyly | 18 / 7739 | ||||
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(HPO:0003312) | Abnormal form of the vertebral bodies | Occasional [Orphanet] | 172 / 7739 | |||
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(HPO:0001180) | Hand oligodactyly | 17 / 7739 | ||||
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(HPO:0001163) | Abnormality of the metacarpal bones | Frequent [Orphanet] | 149 / 7739 | |||
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(HPO:0004209) | Clinodactyly of the 5th finger | Frequent [Orphanet] | 288 / 7739 | |||
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(HPO:0002997) | Abnormality of the ulna | Very frequent [Orphanet] | 75 / 7739 | |||
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(OMIM) | Retroglossia | 1 / 7739 | ||||
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(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 | ||||
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(OMIM) | U-shaped posterior cleft palate | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
| Clinical Description OMIM |
Robinow et al. (1986) observed the Robin sequence (micrognathia, retroglossia, and U-shaped posterior cleft palate) in association with oligodactyly in a mother and son. Meinecke and Wiedemann (1987) expressed the opinion that this disorder is the same as ... |