Thumb deformity - alopecia - pigmentation anomaly
General Information (adopted from Orphanet):
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Synonyms, Signs:
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Number of Symptoms
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22
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OrphanetNr:
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2251
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OMIM Id:
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188150
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ICD-10:
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UMLs:
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C2931366
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MeSH:
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C536904
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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
[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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Syndrome with limb malformations as a major feature
-Rare developmental defect during embryogenesis
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1
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(HPO:0006315)
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Single median maxillary incisor |
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13 / 7739
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2
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(HPO:0000159)
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Abnormality of the lip |
Frequent [Orphanet]
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33 / 7739
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3
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(HPO:0006482)
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Abnormality of dental morphology |
Frequent [Orphanet]
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81 / 7739
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4
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(HPO:0000411)
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Protruding ear |
Frequent [Orphanet]
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140 / 7739
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5
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(HPO:0001249)
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Intellectual disability |
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1089 / 7739
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6
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(HPO:0002167)
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Neurological speech impairment |
Frequent [Orphanet]
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308 / 7739
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7
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(HPO:0006101)
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Finger syndactyly |
Occasional [Orphanet]
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198 / 7739
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8
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(HPO:0009778)
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Short thumb |
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50 / 7739
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9
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(HPO:0100490)
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Camptodactyly of finger |
Frequent [Orphanet]
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212 / 7739
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10
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(HPO:0009601)
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Aplasia/Hypoplasia of the thumb |
Very frequent [Orphanet]
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80 / 7739
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11
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(HPO:0004322)
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Short stature |
Very frequent [Orphanet]
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1232 / 7739
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12
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(HPO:0007450)
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Increased groin pigmentation with raindrop depigmentation |
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1 / 7739
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13
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(HPO:0001805)
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Thick nail |
Frequent [Orphanet]
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96 / 7739
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14
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(HPO:0001596)
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Alopecia |
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162 / 7739
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15
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(HPO:0001025)
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Urticaria |
Frequent [Orphanet]
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73 / 7739
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16
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(HPO:0001006)
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Hypotrichosis |
Very frequent [Orphanet]
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219 / 7739
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17
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(HPO:0007400)
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Irregular hyperpigmentation |
Very frequent [Orphanet]
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72 / 7739
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18
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(HPO:0000962)
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Hyperkeratosis |
Frequent [Orphanet]
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216 / 7739
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19
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(HPO:0001053)
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Hypopigmented skin patches |
Frequent [Orphanet]
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80 / 7739
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20
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(HPO:0012758)
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Neurodevelopmental delay |
Frequent [Orphanet]
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949 / 7739
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21
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(HPO:0001199)
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Triphalangeal thumb |
Frequent [Orphanet]
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56 / 7739
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22
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(HPO:0000006)
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Autosomal dominant inheritance |
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2518 / 7739
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ClinVar (via SNiPA)
| Gene symbol |
Variation |
Clinical significance |
Reference |