loading...| Preferred Name |
Williams syndrome |
|
| Synonyms |
Monosomy 7q11.23 |
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| Definitions |
A rare genetic multisystemic neurodevelopmental disorder characterized by a distinct facial appearance, cardiac anomalies (most frequently supravalvular aortic stenosis), cognitive and developmental abnormalities, and connective tissue abnormalities (e.g., joint laxity). Facial dysmorphism is characterized by a broad forehead, bitemporal narrowing, periorbital fullness, stellate and/or lacy iris pattern, short upturned nose with bulbous tip, long philtrum, wide mouth, full lips and mild micrognathia. |
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| ID |
http://www.orpha.net/ORDO/Orphanet_904 |
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| alternative_term |
Monosomy 7q11.23 Williams-Beuren syndrome Deletion 7q11.23 |
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| definition |
A rare genetic multisystemic neurodevelopmental disorder characterized by a distinct facial appearance, cardiac anomalies (most frequently supravalvular aortic stenosis), cognitive and developmental abnormalities, and connective tissue abnormalities (e.g., joint laxity). Facial dysmorphism is characterized by a broad forehead, bitemporal narrowing, periorbital fullness, stellate and/or lacy iris pattern, short upturned nose with bulbous tip, long philtrum, wide mouth, full lips and mild micrognathia. |
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| definition_citation |
Orphanet |
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| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=904 |
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| has_age_of_onset |
Antenatal Neonatal |
|
| has_inheritance |
Autosomal dominant |
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| hasDbXref |
OMIM:194050 MedDRA:10049644 ICD-11:LD44.70 UMLS:C0175702 MeSH:D018980 ICD-10:Q93.8 |
|
| label |
Williams syndrome |
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| notation |
ORPHA:904 |
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| part_of |
http://www.orpha.net/ORDO/Orphanet_506213 http://www.orpha.net/ORDO/Orphanet_156629 http://www.orpha.net/ORDO/Orphanet_183570 http://www.orpha.net/ORDO/Orphanet_139021 http://www.orpha.net/ORDO/Orphanet_139393 http://www.orpha.net/ORDO/Orphanet_98033 http://www.orpha.net/ORDO/Orphanet_156532 http://www.orpha.net/ORDO/Orphanet_306765 http://www.orpha.net/ORDO/Orphanet_611327 http://www.orpha.net/ORDO/Orphanet_102283 |
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| prefixIRI |
ORDO:Orphanet_904 |
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| prefLabel |
Williams syndrome |
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| present_in |
Norway AND has_birth_prevalence_average_value : 13.3 AND has_birth_prevalence_range : 1-5 / 10 000 Hong Kong AND has_birth_prevalence_average_value : 4.2 AND has_birth_prevalence_range : 1-9 / 100 000 |
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| treeView |
http://www.orpha.net/ORDO/Orphanet_506213 http://www.orpha.net/ORDO/Orphanet_156629 http://www.orpha.net/ORDO/Orphanet_183570 http://www.orpha.net/ORDO/Orphanet_139021 http://www.orpha.net/ORDO/Orphanet_139393 http://www.orpha.net/ORDO/Orphanet_98033 http://www.orpha.net/ORDO/Orphanet_156532 http://www.orpha.net/ORDO/Orphanet_306765 http://www.orpha.net/ORDO/Orphanet_611327 http://www.orpha.net/ORDO/Orphanet_102283 |
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| subClassOf |