White forelock with malformations
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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2475
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OMIM Id:
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277740
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ICD-10:
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Q87.8
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UMLs:
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C1848463
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MeSH:
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C536700
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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 recessive inheritance
[Omim]
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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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Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit
-Rare genetic disease
Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit
-Rare developmental defect during embryogenesis
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1
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(HPO:0002002)
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Deep philtrum |
Very frequent [Orphanet]
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42 / 7739
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2
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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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3
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(HPO:0000268)
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Dolichocephaly |
Very frequent [Orphanet]
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144 / 7739
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4
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(HPO:0000316)
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Hypertelorism |
Very frequent [Orphanet]
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644 / 7739
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5
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(HPO:0000286)
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Epicanthus |
Very frequent [Orphanet]
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371 / 7739
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6
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(HPO:0000545)
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Myopia |
Frequent [Orphanet]
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286 / 7739
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7
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(HPO:0000486)
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Strabismus |
Frequent [Orphanet]
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576 / 7739
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8
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(HPO:0000592)
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Blue sclerae |
Very frequent [Orphanet]
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85 / 7739
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9
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(HPO:0000357)
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Abnormal location of ears |
Very frequent [Orphanet]
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328 / 7739
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10
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(HPO:0001382)
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Joint hypermobility |
Very frequent [Orphanet]
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231 / 7739
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11
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(HPO:0002750)
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Delayed skeletal maturation |
Very frequent [Orphanet]
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250 / 7739
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12
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(HPO:0000912)
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Sprengel anomaly |
Frequent [Orphanet]
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51 / 7739
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13
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(HPO:0004209)
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Clinodactyly of the 5th finger |
Very frequent [Orphanet]
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288 / 7739
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14
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(HPO:0000921)
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Missing ribs |
Frequent [Orphanet]
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62 / 7739
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15
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(HPO:0003298)
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Spina bifida occulta |
Frequent [Orphanet]
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67 / 7739
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16
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(HPO:0006101)
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Finger syndactyly |
Very frequent [Orphanet]
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198 / 7739
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17
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(HPO:0010185)
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Aplasia/Hypoplasia of the distal phalanges of the toes |
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4 / 7739
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18
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(HPO:0011365)
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Patchy hypopigmentation of hair |
Very frequent [Orphanet]
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8 / 7739
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19
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(HPO:0002211)
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White forelock |
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18 / 7739
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20
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(HPO:0007457)
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Prominent veins on trunk |
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1 / 7739
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21
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(HPO:0002290)
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Poliosis |
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3 / 7739
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22
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(HPO:0001631)
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Atria septal defect |
Very frequent [Orphanet]
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274 / 7739
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23
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(HPO:0002780)
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Bronchomalacia |
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7 / 7739
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24
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(HPO:0012252)
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Abnormal respiratory system morphology |
Very frequent [Orphanet]
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14 / 7739
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25
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(OMIM)
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Segmental bronchomalacia with atelectasis |
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1 / 7739
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26
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(OMIM)
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Prominent thoracic and abdominal veins |
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1 / 7739
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27
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(HPO:0000007)
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Autosomal recessive inheritance |
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2538 / 7739
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ClinVar (via SNiPA)
| Gene symbol |
Variation |
Clinical significance |
Reference |