Facial ectodermal dysplasia
General Information (adopted from Orphanet):
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Synonyms, Signs:
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Number of Symptoms
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23
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OrphanetNr:
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1807
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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 dominant
Autosomal recessive
[Orphanet]
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Age of onset:
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Antenatal
Neonatal
[Orphanet]
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Disease classification (adopted from Orphanet):
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Parent Diseases:
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No data available.
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1
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(HPO:0000072)
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Hydroureter |
Frequent [Orphanet]
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146 / 7739
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2
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(HPO:0200102)
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Sparse or absent eyelashes |
Frequent [Orphanet]
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64 / 7739
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3
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(HPO:0100840)
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Aplasia/Hypoplasia of the eyebrow |
Frequent [Orphanet]
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117 / 7739
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4
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(HPO:0000499)
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Abnormality of the eyelashes |
Frequent [Orphanet]
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35 / 7739
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5
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(HPO:0000494)
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Downslanted palpebral fissures |
Occasional [Orphanet]
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328 / 7739
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6
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(HPO:0002553)
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Highly arched eyebrow |
Frequent [Orphanet]
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92 / 7739
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7
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(HPO:0010751)
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Chin dimple |
Very frequent [Orphanet]
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16 / 7739
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8
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(HPO:0000457)
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Depressed nasal ridge |
Very frequent [Orphanet]
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85 / 7739
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9
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(HPO:0005338)
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Sparse lateral eyebrow |
Frequent [Orphanet]
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21 / 7739
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10
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(HPO:0002714)
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Downturned corners of mouth |
Very frequent [Orphanet]
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98 / 7739
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11
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(HPO:0009553)
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Abnormality of the hairline |
Very frequent [Orphanet]
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30 / 7739
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12
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(HPO:0000445)
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Wide nose |
Frequent [Orphanet]
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190 / 7739
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13
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(HPO:0000286)
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Epicanthus |
Frequent [Orphanet]
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371 / 7739
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14
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(HPO:0000322)
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Short philtrum |
Frequent [Orphanet]
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130 / 7739
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15
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(HPO:0000486)
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Strabismus |
Occasional [Orphanet]
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576 / 7739
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16
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(HPO:0000632)
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Lacrimation abnormality |
Occasional [Orphanet]
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42 / 7739
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17
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(HPO:0002023)
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Anal atresia |
Frequent [Orphanet]
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135 / 7739
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18
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(HPO:0001006)
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Hypotrichosis |
Very frequent [Orphanet]
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219 / 7739
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19
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(HPO:0000957)
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Cafe-au-lait spot |
Occasional [Orphanet]
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84 / 7739
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20
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(HPO:0008065)
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Aplasia/Hypoplasia of the skin |
Very frequent [Orphanet]
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81 / 7739
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21
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(HPO:0007495)
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Prematurely aged appearance |
Very frequent [Orphanet]
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44 / 7739
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22
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(HPO:0200040)
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Epidermoid cyst |
Very frequent [Orphanet]
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35 / 7739
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23
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(HPO:0001053)
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Hypopigmented skin patches |
Occasional [Orphanet]
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80 / 7739
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ClinVar (via SNiPA)
| Gene symbol |
Variation |
Clinical significance |
Reference |