Hypo- and hypermelanotic cutaneous macules - retarded growth - intellectual deficiency
General Information (adopted from Orphanet):
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Synonyms, Signs:
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Westerhof-Beemer-Cormane syndrome
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Number of Symptoms
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14
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OrphanetNr:
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2435
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OMIM Id:
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154000
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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
[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 pigmentation anomaly of the skin
-Rare genetic disease
Pigmentation anomaly of the skin
-Rare skin disease
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1
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(HPO:0000252)
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Microcephaly |
Occasional [Orphanet]
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832 / 7739
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2
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(HPO:0001249)
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Intellectual disability |
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1089 / 7739
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3
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(HPO:0000921)
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Missing ribs |
Occasional [Orphanet]
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62 / 7739
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4
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(HPO:0004322)
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Short stature |
Frequent [Orphanet]
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1232 / 7739
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5
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(HPO:0001510)
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Growth delay |
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295 / 7739
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6
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(HPO:0000995)
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Melanocytic nevus |
Very frequent [Orphanet]
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63 / 7739
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7
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(HPO:0001053)
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Hypopigmented skin patches |
Very frequent [Orphanet]
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80 / 7739
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8
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(HPO:0009719)
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Hypomelanotic macule |
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4 / 7739
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9
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(HPO:0001034)
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Hypermelanotic macule |
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22 / 7739
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10
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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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11
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(HPO:0000006)
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Autosomal dominant inheritance |
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2518 / 7739
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12
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(MedDRA:10025421)
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Macule |
Very frequent [Orphanet]
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55 / 7739
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13
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(OMIM)
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Congenital hypomelanotic and hypermelanotic cutaneous macules |
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1 / 7739
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14
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(HPO:0012758)
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Neurodevelopmental delay |
Frequent [Orphanet]
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949 / 7739
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ClinVar (via SNiPA)
| Gene symbol |
Variation |
Clinical significance |
Reference |