Blepharoptosis - cleft palate - ectrodactyly - dental anomalies
General Information (adopted from Orphanet):
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Synonyms, Signs:
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Rodini-Richieri Costa syndrome
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Number of Symptoms
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5
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OrphanetNr:
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1258
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OMIM Id:
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ICD-10:
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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:
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Prevalence:
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No data available.
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Inheritance:
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Autosomal recessive inheritance
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Age of onset:
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Disease classification (adopted from Orphanet):
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Parent Diseases:
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Genetic malformation syndrome with odontal and/or periodontal component
-Rare genetic disease
Malformation syndrome with odontal and/or periodontal component
-Rare developmental defect during embryogenesis
-Rare odontologic disease
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1
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(HPO:0000164)
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Abnormality of the teeth |
Very frequent [Orphanet]
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291 / 7739
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2
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(HPO:0100629)
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Midline facial cleft |
Very frequent [Orphanet]
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3 / 7739
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3
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(HPO:0006482)
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Abnormality of dental morphology |
Very frequent [Orphanet]
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81 / 7739
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4
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(HPO:0000508)
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Ptosis |
Very frequent [Orphanet]
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459 / 7739
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5
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(HPO:0001800)
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Hypoplastic toenails |
Very frequent [Orphanet]
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74 / 7739
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ClinVar (via SNiPA)
| Gene symbol |
Variation |
Clinical significance |
Reference |