loading...| Preferred Name | Multiple synostoses syndrome | |
| Synonyms |
Hearing loss-Hermann type symphalangism syndrome Facio-audio-symphalangism Symphalangism-brachydactyly syndrome Deafness-Hermann type symphalangism syndrome WL syndrome |
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| Definitions |
Multiple synostoses syndrome (MSS) is a rare developmental bone disorder characterized by proximal symphalangism of the fingers and/or toes often associated with fusion of carpal and tarsal, humeroradial, and cervical spine joints. |
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| ID |
http://www.orpha.net/ORDO/Orphanet_3237 |
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| alternative_term |
Hearing loss-Hermann type symphalangism syndrome Facio-audio-symphalangism Symphalangism-brachydactyly syndrome Deafness-Hermann type symphalangism syndrome WL syndrome |
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| definition |
Multiple synostoses syndrome (MSS) is a rare developmental bone disorder characterized by proximal symphalangism of the fingers and/or toes often associated with fusion of carpal and tarsal, humeroradial, and cervical spine joints. |
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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=3237 |
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| has_age_of_onset |
Childhood |
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| has_inheritance |
Autosomal dominant |
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| hasDbXref |
ICD-10:Q78.8 ICD-11:LD26.3 OMIM:610017 UMLS:C0175700 OMIM:612961 OMIM:186500 |
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| label |
Multiple synostoses syndrome |
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| notation |
ORPHA:3237 |
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| part_of | ||
| prefixIRI |
ORDO:Orphanet_3237 |
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| prefLabel |
Multiple synostoses syndrome |
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| present_in |
Worldwide AND has_point_prevalence_range : <1 / 1 000 000 Worldwide AND has_cases/families_value : 30.0 (Family) |
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| treeView | ||
| subClassOf |