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Sheldon-Hall syndrome(SHS; FSSV)

MedGen UID:
320374
•Concept ID:
C1834523
•
Disease or Syndrome
Synonym: Freeman Sheldon syndrome, variant
SNOMED CT: Distal arthrogryposis type 2B (715216008); Sheldon-Hall syndrome (715216008); Freeman-Sheldon syndrome variant (715216008)
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.
Not genetically inherited
MedGen UID:
988794
•Concept ID:
CN307044
•
Finding
Source: Orphanet
clinical entity without genetic inheritance.
See: This record
Autosomal dominant inheritance (Orphanet)
Not genetically inherited (Orphanet)
 
Related genes: NALCN, TNNT3, TNNI2, MYH3
 
Monarch Initiative: MONDO:0011128
OMIM®: 601680
Orphanet: ORPHA1147

Definition

Rare multiple congenital contracture syndrome characterised by contractures of distal joints of the limbs, triangular face, downslanting palpebral fissures, small mouth, and high arched palate. [from SNOMEDCT_US]

Professional guidelines

PubMed

Findings, Phenotypes, Diagnostic Accuracy, and Treatment in Freeman-Burian Syndrome.
Poling MI, Dufresne CR, Chamberlain RL
J Craniofac Surg 2020 Jun;31(4):1063-1069. doi: 10.1097/SCS.0000000000006299. PMID: 32149971

Recent clinical studies

Etiology

A novel pathogenic MYH3 mutation in a child with Sheldon-Hall syndrome and vertebral fusions.
Scala M, Accogli A, De Grandis E, Allegri A, Bagowski CP, Shoukier M, Maghnie M, Capra V
Am J Med Genet A 2018 Mar;176(3):663-667. Epub 2018 Jan 5 doi: 10.1002/ajmg.a.38593. PMID: 29314551
Findings, phenotypes, and outcomes in Freeman-Sheldon and Sheldon-Hall syndromes and distal arthrogryposis types 1 and 3: protocol for systematic review and patient-level data meta-analysis.
Poling MI, Morales Corado JA, Chamberlain RL
Syst Rev 2017 Mar 6;6(1):46. doi: 10.1186/s13643-017-0444-4. PMID: 28264711Free PMC Article
Anesthetic considerations in Sheldon-Hall syndrome.
Anderson TA, Kasser JR, Holzman RS
Paediatr Anaesth 2014 May;24(5):538-40. doi: 10.1111/pan.12303. PMID: 24829975
A novel mutation in TNNT3 associated with Sheldon-Hall syndrome in a Chinese family with vertical talus.
Zhao N, Jiang M, Han W, Bian C, Li X, Huang F, Kong Q, Li J
Eur J Med Genet 2011 May-Jun;54(3):351-3. Epub 2011 Mar 12 doi: 10.1016/j.ejmg.2011.03.002. PMID: 21402185
Mutations in embryonic myosin heavy chain (MYH3) cause Freeman-Sheldon syndrome and Sheldon-Hall syndrome.
Toydemir RM, Rutherford A, Whitby FG, Jorde LB, Carey JC, Bamshad MJ
Nat Genet 2006 May;38(5):561-5. Epub 2006 Apr 16 doi: 10.1038/ng1775. PMID: 16642020

Diagnosis

Findings, Phenotypes, Diagnostic Accuracy, and Treatment in Freeman-Burian Syndrome.
Poling MI, Dufresne CR, Chamberlain RL
J Craniofac Surg 2020 Jun;31(4):1063-1069. doi: 10.1097/SCS.0000000000006299. PMID: 32149971
A novel pathogenic MYH3 mutation in a child with Sheldon-Hall syndrome and vertebral fusions.
Scala M, Accogli A, De Grandis E, Allegri A, Bagowski CP, Shoukier M, Maghnie M, Capra V
Am J Med Genet A 2018 Mar;176(3):663-667. Epub 2018 Jan 5 doi: 10.1002/ajmg.a.38593. PMID: 29314551
Findings, phenotypes, and outcomes in Freeman-Sheldon and Sheldon-Hall syndromes and distal arthrogryposis types 1 and 3: protocol for systematic review and patient-level data meta-analysis.
Poling MI, Morales Corado JA, Chamberlain RL
Syst Rev 2017 Mar 6;6(1):46. doi: 10.1186/s13643-017-0444-4. PMID: 28264711Free PMC Article
Freeman-Sheldon syndrome in a 29-year-old woman presenting with rare and previously undescribed features.
Chamberlain RL, Poling MI, Portillo AL, Morales A, Ramirez RR, McCormick RJ
BMJ Case Rep 2015 Oct 22;2015 doi: 10.1136/bcr-2015-212607. PMID: 26494722Free PMC Article
Sheldon-Hall syndrome.
Toydemir RM, Bamshad MJ
Orphanet J Rare Dis 2009 Mar 23;4:11. doi: 10.1186/1750-1172-4-11. PMID: 19309503Free PMC Article

Therapy

Findings, phenotypes, and outcomes in Freeman-Sheldon and Sheldon-Hall syndromes and distal arthrogryposis types 1 and 3: protocol for systematic review and patient-level data meta-analysis.
Poling MI, Morales Corado JA, Chamberlain RL
Syst Rev 2017 Mar 6;6(1):46. doi: 10.1186/s13643-017-0444-4. PMID: 28264711Free PMC Article
Anesthetic considerations in Sheldon-Hall syndrome.
Anderson TA, Kasser JR, Holzman RS
Paediatr Anaesth 2014 May;24(5):538-40. doi: 10.1111/pan.12303. PMID: 24829975

Prognosis

A novel TNNI2 mutation causes Freeman-Sheldon syndrome in a Chinese family with an affected adult with only facial contractures.
Li X, Jiang M, Han W, Zhao N, Liu W, Sui Y, Lu Y, Li J
Gene 2013 Sep 25;527(2):630-5. Epub 2013 Jul 11 doi: 10.1016/j.gene.2013.06.082. PMID: 23850728
Mutations in embryonic myosin heavy chain (MYH3) cause Freeman-Sheldon syndrome and Sheldon-Hall syndrome.
Toydemir RM, Rutherford A, Whitby FG, Jorde LB, Carey JC, Bamshad MJ
Nat Genet 2006 May;38(5):561-5. Epub 2006 Apr 16 doi: 10.1038/ng1775. PMID: 16642020

Clinical prediction guides

Myosin heavy chain mutations that cause Freeman-Sheldon syndrome lead to muscle structural and functional defects in Drosophila.
Das S, Kumar P, Verma A, Maiti TK, Mathew SJ
Dev Biol 2019 May 15;449(2):90-98. Epub 2019 Feb 28 doi: 10.1016/j.ydbio.2019.02.017. PMID: 30826400Free PMC Article
A novel pathogenic MYH3 mutation in a child with Sheldon-Hall syndrome and vertebral fusions.
Scala M, Accogli A, De Grandis E, Allegri A, Bagowski CP, Shoukier M, Maghnie M, Capra V
Am J Med Genet A 2018 Mar;176(3):663-667. Epub 2018 Jan 5 doi: 10.1002/ajmg.a.38593. PMID: 29314551
A novel TNNI2 mutation causes Freeman-Sheldon syndrome in a Chinese family with an affected adult with only facial contractures.
Li X, Jiang M, Han W, Zhao N, Liu W, Sui Y, Lu Y, Li J
Gene 2013 Sep 25;527(2):630-5. Epub 2013 Jul 11 doi: 10.1016/j.gene.2013.06.082. PMID: 23850728
Mutations in embryonic myosin heavy chain (MYH3) cause Freeman-Sheldon syndrome and Sheldon-Hall syndrome.
Toydemir RM, Rutherford A, Whitby FG, Jorde LB, Carey JC, Bamshad MJ
Nat Genet 2006 May;38(5):561-5. Epub 2006 Apr 16 doi: 10.1038/ng1775. PMID: 16642020

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