Preferred Name | Antley-Bixler syndrome | |
Synonyms |
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|
Definitions |
A rare syndromic craniosynostosis characterized by craniosynostosis with midface hypoplasia, radiohumeral synostosis, femoral bowing and joint contractures. |
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ID |
http://www.orpha.net/ORDO/Orphanet_83 |
|
definition |
A rare syndromic craniosynostosis characterized by craniosynostosis with midface hypoplasia, radiohumeral synostosis, femoral bowing and joint contractures. |
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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=83 |
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has_age_of_onset |
Antenatal Neonatal |
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has_inheritance |
Autosomal recessive Autosomal dominant |
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hasDbXref |
OMIM:207410 MeSH:D054882 ICD-10:Q87.8 MedDRA:10083864 UMLS:C5234850 ICD-11:LD24.GY |
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label |
Antley-Bixler syndrome |
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notation |
ORPHA:83 |
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part_of |
http://www.orpha.net/ORDO/Orphanet_139393 |
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prefixIRI |
ORDO:Orphanet_83 |
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prefLabel |
Antley-Bixler syndrome |
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present_in |
Worldwide AND has_point_prevalence_range : Unknown |
|
treeView |
http://www.orpha.net/ORDO/Orphanet_139393 |
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subClassOf |