Edinburgh malformation syndrome
General Information (adopted from Orphanet):
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Synonyms, Signs:
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Number of Symptoms
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27
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OrphanetNr:
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1895
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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 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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No data available.
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1
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(HPO:0000277)
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Abnormality of the mandible |
Frequent [Orphanet]
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394 / 7739
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2
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(HPO:0002007)
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Frontal bossing |
Very frequent [Orphanet]
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366 / 7739
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3
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(HPO:0000463)
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Anteverted nares |
Frequent [Orphanet]
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305 / 7739
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4
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(HPO:0003196)
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Short nose |
Frequent [Orphanet]
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264 / 7739
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5
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(HPO:0100037)
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Abnormality of the scalp hair |
Very frequent [Orphanet]
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6 / 7739
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6
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(HPO:0000160)
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Narrow mouth |
Occasional [Orphanet]
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188 / 7739
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7
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(HPO:0002162)
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Low posterior hairline |
Frequent [Orphanet]
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88 / 7739
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8
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(HPO:0000453)
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Choanal atresia |
Very frequent [Orphanet]
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76 / 7739
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9
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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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10
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(HPO:0000664)
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Synophrys |
Frequent [Orphanet]
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112 / 7739
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11
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(HPO:0000233)
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Thin vermilion border |
Very frequent [Orphanet]
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124 / 7739
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12
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(HPO:0008056)
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Aplasia/Hypoplasia affecting the eye |
Very frequent [Orphanet]
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142 / 7739
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13
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(HPO:0001088)
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Brushfield spots |
Occasional [Orphanet]
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8 / 7739
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14
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(HPO:0000357)
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Abnormal location of ears |
Frequent [Orphanet]
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328 / 7739
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15
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(HPO:0001250)
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Seizures |
Frequent [Orphanet]
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1245 / 7739
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16
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(HPO:0001276)
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Hypertonia |
Frequent [Orphanet]
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317 / 7739
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17
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(HPO:0011302)
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Long palm |
Frequent [Orphanet]
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70 / 7739
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18
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(HPO:0005616)
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Accelerated skeletal maturation |
Occasional [Orphanet]
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46 / 7739
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19
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(HPO:0001387)
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Joint stiffness |
Occasional [Orphanet]
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322 / 7739
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20
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(HPO:0009465)
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Ulnar deviation of finger |
Occasional [Orphanet]
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48 / 7739
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21
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(HPO:0004325)
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Decreased body weight |
Very frequent [Orphanet]
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492 / 7739
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22
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(HPO:0011362)
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Abnormal hair quantity |
Frequent [Orphanet]
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92 / 7739
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23
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(HPO:0001608)
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Abnormality of the voice |
Very frequent [Orphanet]
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126 / 7739
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24
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(HPO:0002093)
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Respiratory insufficiency |
Very frequent [Orphanet]
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410 / 7739
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25
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(HPO:0000238)
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Hydrocephalus |
Frequent [Orphanet]
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278 / 7739
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26
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(HPO:0002536)
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Abnormal cortical gyration |
Occasional [Orphanet]
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72 / 7739
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27
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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 |