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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
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: study of a large Brazilian kindred.
da-Silva EO, Filho SM, de Albuquerque SC
Am J Med Genet 1984 Jun;18(2):237-47. doi: 10.1002/ajmg.1320180208. PMID: 6465200
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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