Details of Disease | DrugMAP

General Information of Disease (ID: DISGA3UA)

Disease Name	Multiple synostoses syndrome
Synonyms	deafness-Hermann type symphalangism syndrome; symphalangism-brachydactyly syndrome; WL syndrome; facio-audio-symphalangism
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.
Disease Hierarchy	DIS6SVEE: Syndromic disease DISYKSRF: Genetic disease DIS3LICD: Congenital limb malformation DISXGMZW: Synostosis DISGA3UA: Multiple synostoses syndrome
Disease Identifiers	MONDO ID MONDO_0017923 UMLS CUI C0175700 MedGen ID 511579 Orphanet ID 3237 SNOMED CT ID 62628008

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
GDF5	TT37XV9	Supportive	Autosomal dominant	[1]
GDF5	TT37XV9	Strong	Genetic Variation	[2]
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This Disease Is Related to 5 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
FGF9	OT2SKDGM	Supportive	Autosomal dominant	[3]
GDF5	OTOV8S81	Supportive	Autosomal dominant	[1]
NOG	OTGRHHPG	Supportive	Autosomal dominant	[4]
GDF6	OTERXWJU	Strong	Genetic Variation	[5]
MPV17	OT579DMU	Strong	Genetic Variation	[6]
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References

1	GDF5 is a second locus for multiple-synostosis syndrome. Am J Hum Genet. 2006 Apr;78(4):708-12. doi: 10.1086/503204. Epub 2006 Feb 24.
2	Improved bone defect healing by a superagonistic GDF5 variant derived from a patient with multiple synostoses syndrome.Bone. 2015 Apr;73:111-9. doi: 10.1016/j.bone.2014.12.017. Epub 2014 Dec 24.
3	Multiple synostoses syndrome is due to a missense mutation in exon 2 of FGF9 gene. Am J Hum Genet. 2009 Jul;85(1):53-63. doi: 10.1016/j.ajhg.2009.06.007.
4	Facioaudiosymphalangism syndrome and growth acceleration associated with a heterozygous NOG mutation. Am J Med Genet A. 2010 Jun;152A(6):1540-4. doi: 10.1002/ajmg.a.33387.
5	Further delineation of the GDF6 related multiple synostoses syndrome.Am J Med Genet A. 2018 Jan;176(1):225-229. doi: 10.1002/ajmg.a.38503. Epub 2017 Nov 12.
6	Heterozygous mutations in the gene encoding noggin affect human joint morphogenesis. Nat Genet. 1999 Mar;21(3):302-4. doi: 10.1038/6821.