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Multiple synostosis syndrome

MedGen UID:
511579
•Concept ID:
C0175700
•
Disease or Syndrome
Synonym: Multiple synostoses syndrome
SNOMED CT: Multiple synostosis syndrome (62628008); Symphalangism syndrome (62628008)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
•Concept ID:
C0443147
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Autosomal dominant inheritance (Orphanet)
 
Related genes: GDF6, NOG, GDF5, FGF9
 
Monarch Initiative: MONDO:0017923
OMIM® Phenotypic series: PS186500
Orphanet: ORPHA3237

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. [from ORDO]

Professional guidelines

PubMed

Identification of the third FGF9 variant in a girl with multiple synostosis-comparison of the genotype:phenotype of FGF9 variants in humans and mice.
Sentchordi-Montané L, Diaz-Gonzalez F, Cátedra-Vallés EV, Heath KE
Clin Genet 2021 Feb;99(2):309-312. Epub 2020 Nov 10 doi: 10.1111/cge.13876. PMID: 33140402

Recent clinical studies

Etiology

Identification of the third FGF9 variant in a girl with multiple synostosis-comparison of the genotype:phenotype of FGF9 variants in humans and mice.
Sentchordi-Montané L, Diaz-Gonzalez F, Cátedra-Vallés EV, Heath KE
Clin Genet 2021 Feb;99(2):309-312. Epub 2020 Nov 10 doi: 10.1111/cge.13876. PMID: 33140402
GDF5 is a second locus for multiple-synostosis syndrome.
Dawson K, Seeman P, Sebald E, King L, Edwards M, Williams J 3rd, Mundlos S, Krakow D
Am J Hum Genet 2006 Apr;78(4):708-12. Epub 2006 Feb 24 doi: 10.1086/503204. PMID: 16532400Free PMC Article
Humeroradial synostosis and the multiple synostosis syndrome: case report.
McIntyre JD, Brooks A, Benson MK
J Pediatr Orthop B 2003 May;12(3):192-6. doi: 10.1097/01.bpb.0000060287.16932.ec. PMID: 12703033
Herrmann multiple synostosis syndrome with neurological complications caused by spinal canal stenosis.
Edwards MJ, Rowe L, Petroff V
Am J Med Genet 2000 Nov 13;95(2):118-22. PMID: 11078560

Diagnosis

Surgical Considerations for Massive Tarsal Coalitions in Multiple Synostosis Syndrome: A Case Report.
Merchant R, Bhatt N, Merchant M
J Foot Ankle Surg 2015 Nov-Dec;54(6):1162-5. Epub 2015 Mar 20 doi: 10.1053/j.jfas.2014.12.021. PMID: 25799911
Multiple synostosis syndrome.
Hachimi H, Tahiri L, Ghani N, Ouldim K, Harzy T
Joint Bone Spine 2012 Mar;79(2):198. Epub 2011 Dec 13 doi: 10.1016/j.jbspin.2011.07.012. PMID: 22169575
Mutations in GDF5 reveal a key residue mediating BMP inhibition by NOGGIN.
Seemann P, Brehm A, König J, Reissner C, Stricker S, Kuss P, Haupt J, Renninger S, Nickel J, Sebald W, Groppe JC, Plöger F, Pohl J, Schmidt-von Kegler M, Walther M, Gassner I, Rusu C, Janecke AR, Dathe K, Mundlos S
PLoS Genet 2009 Nov;5(11):e1000747. Epub 2009 Nov 26 doi: 10.1371/journal.pgen.1000747. PMID: 19956691Free PMC Article
Humeroradial synostosis and the multiple synostosis syndrome: case report.
McIntyre JD, Brooks A, Benson MK
J Pediatr Orthop B 2003 May;12(3):192-6. doi: 10.1097/01.bpb.0000060287.16932.ec. PMID: 12703033
Multiple synostosis syndrome.
Pedersen JC, Fryns JP, Carpentier G, Heremans G, Van den Berghe H
Eur J Pediatr 1980 Sep;134(3):273-5. doi: 10.1007/BF00441486. PMID: 7428777

Therapy

siRNA Mediate RNA Interference Concordant with Early On-Target Transient Transcriptional Interference.
Fang Z, Zhao Z, Eapen V, Clarke RA
Genes (Basel) 2021 Aug 23;12(8) doi: 10.3390/genes12081290. PMID: 34440463Free PMC Article

Prognosis

GDF5 is a second locus for multiple-synostosis syndrome.
Dawson K, Seeman P, Sebald E, King L, Edwards M, Williams J 3rd, Mundlos S, Krakow D
Am J Hum Genet 2006 Apr;78(4):708-12. Epub 2006 Feb 24 doi: 10.1086/503204. PMID: 16532400Free PMC Article

Clinical prediction guides

Identification of the third FGF9 variant in a girl with multiple synostosis-comparison of the genotype:phenotype of FGF9 variants in humans and mice.
Sentchordi-Montané L, Diaz-Gonzalez F, Cátedra-Vallés EV, Heath KE
Clin Genet 2021 Feb;99(2):309-312. Epub 2020 Nov 10 doi: 10.1111/cge.13876. PMID: 33140402
GDF5 is a second locus for multiple-synostosis syndrome.
Dawson K, Seeman P, Sebald E, King L, Edwards M, Williams J 3rd, Mundlos S, Krakow D
Am J Hum Genet 2006 Apr;78(4):708-12. Epub 2006 Feb 24 doi: 10.1086/503204. PMID: 16532400Free PMC Article

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