Flat face - microstomia - ear anomaly
General Information (adopted from Orphanet):
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Synonyms, Signs:
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Number of Symptoms
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31
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OrphanetNr:
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1968
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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:0000035)
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Abnormality of the testis |
Frequent [Orphanet]
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296 / 7739
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2
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(HPO:0000046)
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Scrotal hypoplasia |
Frequent [Orphanet]
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54 / 7739
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3
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(HPO:0100840)
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Aplasia/Hypoplasia of the eyebrow |
Very frequent [Orphanet]
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117 / 7739
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4
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(HPO:0000506)
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Telecanthus |
Very frequent [Orphanet]
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156 / 7739
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5
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(HPO:0000430)
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Underdeveloped nasal alae |
Very frequent [Orphanet]
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90 / 7739
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6
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(HPO:0005105)
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Abnormal nasal morphology |
Very frequent [Orphanet]
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114 / 7739
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7
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(HPO:0000348)
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High forehead |
Very frequent [Orphanet]
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157 / 7739
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8
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(HPO:0000272)
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Malar flattening |
Very frequent [Orphanet]
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277 / 7739
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9
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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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10
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(HPO:0000581)
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Blepharophimosis |
Very frequent [Orphanet]
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197 / 7739
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11
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(HPO:0000431)
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Wide nasal bridge |
Very frequent [Orphanet]
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290 / 7739
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12
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(HPO:0002553)
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Highly arched eyebrow |
Very frequent [Orphanet]
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92 / 7739
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13
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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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14
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(HPO:0000337)
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Broad forehead |
Very frequent [Orphanet]
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116 / 7739
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15
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(HPO:0000163)
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Abnormality of the oral cavity |
Occasional [Orphanet]
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37 / 7739
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16
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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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17
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(HPO:0002705)
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High, narrow palate |
Very frequent [Orphanet]
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308 / 7739
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18
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(HPO:0000160)
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Narrow mouth |
Very frequent [Orphanet]
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188 / 7739
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19
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(HPO:0000343)
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Long philtrum |
Very frequent [Orphanet]
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262 / 7739
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20
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(HPO:0012368)
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Flat face |
Very frequent [Orphanet]
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106 / 7739
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21
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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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22
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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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23
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(HPO:0009912)
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Abnormality of the tragus |
Very frequent [Orphanet]
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12 / 7739
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24
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(HPO:0009738)
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Abnormality of the antihelix |
Very frequent [Orphanet]
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37 / 7739
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25
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(HPO:0009896)
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Abnormality of the antitragus |
Very frequent [Orphanet]
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10 / 7739
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26
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(HPO:0009906)
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Aplasia/Hypoplasia of the earlobes |
Very frequent [Orphanet]
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41 / 7739
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27
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(HPO:0002650)
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Scoliosis |
Frequent [Orphanet]
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705 / 7739
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28
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(HPO:0100490)
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Camptodactyly of finger |
Occasional [Orphanet]
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212 / 7739
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29
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(HPO:0004299)
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Hernia of the abdominal wall |
Frequent [Orphanet]
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176 / 7739
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30
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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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31
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(HPO:0400004)
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Long ear |
Very frequent [Orphanet]
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94 / 7739
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ClinVar (via SNiPA)
| Gene symbol |
Variation |
Clinical significance |
Reference |