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Regulation of Gene Expression Ontolology
Last uploaded:
December 16, 2015
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| Id | http://identifiers.org/omim/180750
http://identifiers.org/omim/180750
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|---|---|
| Preferred Name | Robinow-Sorauf syndrome |
| Definitions |
(RSS) - An autosomal dominant syndrome characterized by craniosynostosis, asymmetry of orbits, flat face, hypertelorism, a thin, long, and pointed nose, shallow orbits, strabismus, and broad great toes with a duplication of the distal phalanx. RSS is clinically similar to Saethre-Chotzen syndrome, with the most characteristic additional feature in Robinow-Sorauf syndrome being a bifid or partially duplicated hallux.
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| Synonyms |
RSS
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition | (RSS) - An autosomal dominant syndrome characterized by craniosynostosis, asymmetry of orbits, flat face, hypertelorism, a thin, long, and pointed nose, shallow orbits, strabismus, and broad great toes with a duplication of the distal phalanx. RSS is clinically similar to Saethre-Chotzen syndrome, with the most characteristic additional feature in Robinow-Sorauf syndrome being a bifid or partially duplicated hallux. |
|---|---|
| altLabel |
RSS
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| prefLabel |
Robinow-Sorauf syndrome
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| notation |
OMIM:180750
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| id |
OMIM:180750
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| subClassOf | |
| type |
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