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Multiple synostoses syndrome
Disease 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.
ORPHA:3237
Classification level: Disorder- Synonym(s):
- Deafness-Hermann type symphalangism syndrome
- Facio-audio-symphalangism
- Symphalangism-brachydactyly syndrome
- WL syndrome
- Prevalence: <1 / 1 000 000
- Inheritance: Autosomal dominant
- Age of onset: Childhood
- ICD-10: Q78.8
- OMIM: 186500 610017 612961
- UMLS: C0175700 C0342282
- MeSH: -
- GARD: 3836
- MedDRA: -
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