Medeira-Dennis-Donnai syndrome
General Information (adopted from Orphanet):
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Synonyms, Signs:
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Dysraphism - cleft lip/palate - limb reduction defects
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Number of Symptoms
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9
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OrphanetNr:
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2476
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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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Age of onset:
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Disease classification (adopted from Orphanet):
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Parent Diseases:
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Orofacial clefting syndrome
-Rare developmental defect during embryogenesis
-Rare genetic disease
-Rare maxillo-facial surgical disease
-Rare otorhinolaryngologic disease
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1
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(HPO:0000174)
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Abnormality of the palate |
Very frequent [Orphanet]
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298 / 7739
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2
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(HPO:0000204)
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Cleft upper lip |
Very frequent [Orphanet]
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193 / 7739
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3
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(HPO:0002414)
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Spina bifida |
Very frequent [Orphanet]
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47 / 7739
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4
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(HPO:0002818)
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Abnormality of the radius |
Very frequent [Orphanet]
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96 / 7739
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5
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(HPO:0001543)
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Gastroschisis |
Very frequent [Orphanet]
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11 / 7739
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6
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(HPO:0001545)
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Anteriorly placed anus |
Very frequent [Orphanet]
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55 / 7739
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7
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(HPO:0001629)
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Ventricular septal defect |
Very frequent [Orphanet]
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316 / 7739
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8
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(HPO:0004383)
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Hypoplastic left heart |
Very frequent [Orphanet]
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29 / 7739
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9
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(HPO:0002323)
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Anencephaly |
Very frequent [Orphanet]
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28 / 7739
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ClinVar (via SNiPA)
| Gene symbol |
Variation |
Clinical significance |
Reference |