Craniofacial-ulnar-renal syndrome
General Information (adopted from Orphanet):
| Synonyms, Signs: |
3MC syndrome |
| Number of Symptoms | 14 |
| OrphanetNr: | 293843 |
| OMIM Id: |
248340
257920 265050 |
| 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 recessive [Orphanet] |
| Age of onset: |
Neonatal Infancy [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit
-Rare developmental defect during embryogenesis -Rare genetic disease Rare genetic intellectual deficit with developmental anomaly -Rare genetic disease Rare intellectual deficit with developmental anomaly -Rare neurologic disease |
Symptom Information:
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(HPO:0000054) | Micropenis | 257 / 7739 | ||||
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(HPO:0000048) | Bifid scrotum | 36 / 7739 | ||||
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(HPO:0000808) | Penoscrotal hypospadias | 4 / 7739 | ||||
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(HPO:0002553) | Highly arched eyebrow | 92 / 7739 | ||||
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(HPO:0000204) | Cleft upper lip | 193 / 7739 | ||||
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(HPO:0000175) | Cleft palate | 349 / 7739 | ||||
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(HPO:0000316) | Hypertelorism | 644 / 7739 | ||||
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(HPO:0000581) | Blepharophimosis | 197 / 7739 | ||||
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(HPO:0002006) | Facial cleft | 25 / 7739 | ||||
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(HPO:0000508) | Ptosis | 459 / 7739 | ||||
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(HPO:0000365) | Hearing impairment | 539 / 7739 | ||||
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(HPO:0001249) | Intellectual disability | 1089 / 7739 | ||||
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(HPO:0001510) | Growth delay | 295 / 7739 | ||||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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