Cataract - aberrant oral frenula - growth delay
General Information (adopted from Orphanet):
| Synonyms, Signs: |
Wellesley-Carman-French syndrome |
| Number of Symptoms | 23 |
| OrphanetNr: | 1373 |
| OMIM Id: |
115645
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| ICD-10: |
Q87.8 |
| 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: | No data available. |
| Inheritance: |
Autosomal dominant inheritance [Omim] |
| Age of onset: |
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Disease classification (adopted from Orphanet):
| Parent Diseases: |
Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit
-Rare genetic disease Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit -Rare developmental defect during embryogenesis Syndromic cataract -Rare eye disease -Rare genetic disease Syndromic developmental defect of the eye -Rare developmental defect during embryogenesis -Rare eye disease -Rare genetic disease |
Symptom Information:
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(HPO:0003196) | Short nose | 264 / 7739 | ||||
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(HPO:0000463) | Anteverted nares | 305 / 7739 | ||||
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(HPO:0000191) | Accessory oral frenulum | 6 / 7739 | ||||
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(HPO:0000582) | Upslanted palpebral fissure | 185 / 7739 | ||||
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(HPO:0010285) | Oral synechia | Frequent [Orphanet] | 31 / 7739 | |||
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(HPO:0000286) | Epicanthus | Frequent [Orphanet] | 371 / 7739 | |||
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(HPO:0000581) | Blepharophimosis | 197 / 7739 | ||||
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(HPO:0000540) | Hypermetropia | Frequent [Orphanet] | 99 / 7739 | |||
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(HPO:0000518) | Cataract | Frequent [Orphanet] | 454 / 7739 | |||
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(HPO:0001115) | Posterior polar cataract | 8 / 7739 | ||||
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(HPO:0000508) | Ptosis | Frequent [Orphanet] | 459 / 7739 | |||
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(HPO:0000357) | Abnormal location of ears | Frequent [Orphanet] | 328 / 7739 | |||
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(HPO:0000358) | Posteriorly rotated ears | 163 / 7739 | ||||
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(HPO:0001537) | Umbilical hernia | Frequent [Orphanet] | 206 / 7739 | |||
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(HPO:0004299) | Hernia of the abdominal wall | Frequent [Orphanet] | 176 / 7739 | |||
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(HPO:0004322) | Short stature | Frequent [Orphanet] | 1232 / 7739 | |||
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(HPO:0002212) | Curly hair | 21 / 7739 | ||||
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(HPO:0001048) | Cavernous hemangioma | Frequent [Orphanet] | 28 / 7739 | |||
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(OMIM) | Coarse blonde hair | 1 / 7739 | ||||
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(OMIM) | Lobule creases | 1 / 7739 | ||||
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(OMIM) | Numerous aberrant oral frenula | 1 / 7739 | ||||
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(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 | ||||
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(HPO:0012745) | Short palpebral fissure | 47 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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