BOWEN SYNDROME OF MULTIPLE MALFORMATIONS
General Information (adopted from Orphanet):
Synonyms, Signs: |
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Number of Symptoms | 17 |
OrphanetNr: | |
OMIM Id: |
211200
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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:
Prevalence: | No data available. |
Inheritance: |
Autosomal recessive inheritance [Omim] |
Age of onset: |
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Disease classification (adopted from Orphanet):
Parent Diseases: | No data available. |
Symptom Information:
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(HPO:0000047) | Hypospadias | 250 / 7739 | ||||
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(HPO:0000057) | Clitoromegaly | 30 / 7739 | ||||
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(HPO:0000347) | Micrognathia | 426 / 7739 | ||||
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(HPO:0001087) | Congenital glaucoma | 12 / 7739 | ||||
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(HPO:0000598) | Abnormality of the ear | 98 / 7739 | ||||
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(HPO:0008872) | Feeding difficulties in infancy | 153 / 7739 | ||||
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(HPO:0001508) | Failure to thrive | 454 / 7739 | ||||
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(HPO:0030680) | Abnormality of cardiovascular system morphology | 355 / 7739 | ||||
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(OMIM) | Early death | 13 / 7739 | ||||
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(HPO:0030680) | Abnormality of cardiovascular system morphology | 355 / 7739 | ||||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 | ||||
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(OMIM) | Small | 3 / 7739 | ||||
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(HPO:0003819) | Death in childhood | 42 / 7739 | ||||
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(HPO:0001274) | Agenesis of corpus callosum | 142 / 7739 | ||||
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(OMIM) | Absent or weak sucking and swallowing | 1 / 7739 | ||||
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(OMIM) | Malformed | 1 / 7739 | ||||
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(OMIM) | Finger flexion | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
Clinical Description OMIM |
Bowen et al. (1964) described 2 families, each with 2 sibs displaying features suggesting autosomal trisomy, particularly trisomy 18; however, no chromosomal abnormality was identified. Cardinal features were failure to thrive, absent or weak sucking and swallowing, finger ... |