loading...| Preferred Name |
Beare-Stevenson cutis gyrata syndrome |
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| Synonyms |
BSTVS |
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| Definitions |
(BSTVS) - An autosomal dominant disease characterized by craniofacial anomalies, particularly craniosynostosis, and ear defects, cutis gyrata, acanthosis nigricans, anogenital anomalies, skin tags, and prominent umbilical stump. The skin furrows have a corrugated appearance and are widespread. Cutis gyrata variably affects the scalp, forehead, face, preauricular area, neck, trunk, hands, and feet. |
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| ID |
http://identifiers.org/omim/123790 |
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| altLabel |
BSTVS |
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| definition |
(BSTVS) - An autosomal dominant disease characterized by craniofacial anomalies, particularly craniosynostosis, and ear defects, cutis gyrata, acanthosis nigricans, anogenital anomalies, skin tags, and prominent umbilical stump. The skin furrows have a corrugated appearance and are widespread. Cutis gyrata variably affects the scalp, forehead, face, preauricular area, neck, trunk, hands, and feet. |
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| id |
OMIM:123790 |
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| notation |
OMIM:123790 |
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| prefLabel |
Beare-Stevenson cutis gyrata syndrome |
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| subClassOf |