Dysmorphism - cleft palate - loose skin
General Information (adopted from Orphanet):
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Synonyms, Signs:
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Number of Symptoms
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12
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OrphanetNr:
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1779
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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:0000243)
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Trigonocephaly |
Very frequent [Orphanet]
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40 / 7739
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2
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(HPO:0000286)
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Epicanthus |
Very frequent [Orphanet]
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371 / 7739
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3
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(HPO:0000275)
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Narrow face |
Very frequent [Orphanet]
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76 / 7739
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4
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(HPO:0000277)
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Abnormality of the mandible |
Very frequent [Orphanet]
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394 / 7739
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5
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(HPO:0005989)
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Redundant neck skin |
Very frequent [Orphanet]
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40 / 7739
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6
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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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7
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(HPO:0000276)
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Long face |
Very frequent [Orphanet]
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109 / 7739
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8
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(HPO:0001347)
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Hyperreflexia |
Very frequent [Orphanet]
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363 / 7739
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9
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(HPO:0000098)
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Tall stature |
Very frequent [Orphanet]
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74 / 7739
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10
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(HPO:0001582)
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Redundant skin |
Very frequent [Orphanet]
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51 / 7739
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11
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(HPO:0001252)
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Muscular hypotonia |
Very frequent [Orphanet]
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990 / 7739
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12
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(HPO:0012758)
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Neurodevelopmental delay |
Very frequent [Orphanet]
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949 / 7739
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ClinVar (via SNiPA)
| Gene symbol |
Variation |
Clinical significance |
Reference |