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Schwartz-Jampel syndrome(SJS)

MedGen UID:
19892
•Concept ID:
C0036391
•
Disease or Syndrome
Synonym: Myotonic myopathy dwarfism chondrodystrophy and ocular and facial abnormalities
SNOMED CT: Chondrodystrophic myotonia (29145002); Burton syndrome (29145002); Catel Hempel syndrome (29145002); Aberfeld syndrome (29145002); Burton skeletal dysplasia (29145002); Schwartz-Jampel syndrome (29145002); Myotonia chondrodystrophica (29145002); Osteochondromuscular dystrophy (29145002)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
•Concept ID:
C0441748
•
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 individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (Orphanet)
 
Related genes: LIFR, IL6ST, HSPG2
 
Monarch Initiative: MONDO:0009717
OMIM®: 255800
Orphanet: ORPHA800

Definition

A rare, genetic neuromuscular disease characterized by permanent myotonia, mask-like facies (with blepharospasm, narrow palpebral fissures, small mouth with pursed lips and puckered chin) , and chondrodysplasia (variably manifesting with short stature, pectus carinatum, kyphoscoliosis, bowing of long bones, epiphyseal, metaphyseal, and hip dysplasia). [from ORDO]

Professional guidelines

PubMed

Achondroplasia: Update on diagnosis, follow-up and treatment.
Leiva-Gea A, Martos Lirio MF, Barreda Bonis AC, Marín Del Barrio S, Heath KE, Marín Reina P, Guillén-Navarro E, Santos Simarro F, Riaño Galán I, Yeste Fernández D, Leiva-Gea I
An Pediatr (Engl Ed) 2022 Dec;97(6):423.e1-423.e11. Epub 2022 Nov 5 doi: 10.1016/j.anpede.2022.10.004. PMID: 36347803
International Consensus Statement on the diagnosis, multidisciplinary management and lifelong care of individuals with achondroplasia.
Savarirayan R, Ireland P, Irving M, Thompson D, Alves I, Baratela WAR, Betts J, Bober MB, Boero S, Briddell J, Campbell J, Campeau PM, Carl-Innig P, Cheung MS, Cobourne M, Cormier-Daire V, Deladure-Molla M, Del Pino M, Elphick H, Fano V, Fauroux B, Gibbins J, Groves ML, Hagenäs L, Hannon T, Hoover-Fong J, Kaisermann M, Leiva-Gea A, Llerena J, Mackenzie W, Martin K, Mazzoleni F, McDonnell S, Meazzini MC, Milerad J, Mohnike K, Mortier GR, Offiah A, Ozono K, Phillips JA 3rd, Powell S, Prasad Y, Raggio C, Rosselli P, Rossiter J, Selicorni A, Sessa M, Theroux M, Thomas M, Trespedi L, Tunkel D, Wallis C, Wright M, Yasui N, Fredwall SO
Nat Rev Endocrinol 2022 Mar;18(3):173-189. Epub 2021 Nov 26 doi: 10.1038/s41574-021-00595-x. PMID: 34837063
Osteogenesis imperfecta: advancements in genetics and treatment.
Rossi V, Lee B, Marom R
Curr Opin Pediatr 2019 Dec;31(6):708-715. doi: 10.1097/MOP.0000000000000813. PMID: 31693577Free PMC Article

Recent clinical studies

Therapy

Schwartz Jampel syndrome responding positively to carbamazepine therapy: a case report and a novel mutation.
Gürbüz G, Albayrak HM
Turk J Pediatr 2019;61(6):967-970. doi: 10.24953/turkjped.2019.06.023. PMID: 32134596
Treatment of Blepharospasm in Schwartz-Jampel Syndrome: Botulinum Toxin A Injection or Surgery.
Kashkouli MB, Shahrzad S, Jazayeri AA, Abtahi MB
Ophthalmic Plast Reconstr Surg 2017 May/Jun;33(3S Suppl 1):S47-S49. doi: 10.1097/IOP.0000000000000503. PMID: 26020714
Results of botulinum toxin: an application to blepharospasm Schwartz-Jampel syndrome.
Vargel I, Canter HI, Topaloglu H, Erk Y
J Craniofac Surg 2006 Jul;17(4):656-60. doi: 10.1097/00001665-200607000-00008. PMID: 16877909
Schwartz-Jampel syndrome.
Kulkarni ML, Pillai R
Indian Pediatr 2004 Mar;41(3):285. PMID: 15064520
Schwartz-Jampel syndrome: report of five cases.
Reed UC, Reimao R, Espindola AA, Kok F, Ferreira LG, Resende MB, Messias TC, Carvalho MS, Diament A, Scaff M, Marie SK
Arq Neuropsiquiatr 2002 Sep;60(3-B):734-8. PMID: 12364940

Prognosis

Schwartz-Jampel syndrome: a review of the literature and case report.
Mallineni SK, Yiu CK, King NM
Spec Care Dentist 2012 Jun;32(3):105-11. Epub 2012 Apr 26 doi: 10.1111/j.1754-4505.2012.00249.x. PMID: 22591433
Results of botulinum toxin: an application to blepharospasm Schwartz-Jampel syndrome.
Vargel I, Canter HI, Topaloglu H, Erk Y
J Craniofac Surg 2006 Jul;17(4):656-60. doi: 10.1097/00001665-200607000-00008. PMID: 16877909
Schwartz-Jampel syndrome: report of five cases.
Reed UC, Reimao R, Espindola AA, Kok F, Ferreira LG, Resende MB, Messias TC, Carvalho MS, Diament A, Scaff M, Marie SK
Arq Neuropsiquiatr 2002 Sep;60(3-B):734-8. PMID: 12364940
Levator aponeurosis surgery in Schwartz-Jampel syndrome.
Cruz AA, Souza CA, Plastino Júnior LS
Ophthalmic Plast Reconstr Surg 1998 Jul;14(4):271-6. doi: 10.1097/00002341-199807000-00009. PMID: 9700736
The Schwartz-Jampel syndrome.
al Gazali LI
Clin Dysmorphol 1993 Jan;2(1):47-54. PMID: 8298738

Clinical prediction guides

Schwartz Jampel syndrome responding positively to carbamazepine therapy: a case report and a novel mutation.
Gürbüz G, Albayrak HM
Turk J Pediatr 2019;61(6):967-970. doi: 10.24953/turkjped.2019.06.023. PMID: 32134596
Treatment of Blepharospasm in Schwartz-Jampel Syndrome: Botulinum Toxin A Injection or Surgery.
Kashkouli MB, Shahrzad S, Jazayeri AA, Abtahi MB
Ophthalmic Plast Reconstr Surg 2017 May/Jun;33(3S Suppl 1):S47-S49. doi: 10.1097/IOP.0000000000000503. PMID: 26020714
Identification of a novel splice site HSPG2 mutation and prenatal diagnosis in Schwartz Jampel Syndrome type 1 using whole exome sequencing.
Das Bhowmik A, Dalal A, Matta D, Kandadai RM, Kanikannan MA, Aggarwal S
Neuromuscul Disord 2016 Nov;26(11):809-814. Epub 2016 Jul 16 doi: 10.1016/j.nmd.2016.07.004. PMID: 27521129
Results of botulinum toxin: an application to blepharospasm Schwartz-Jampel syndrome.
Vargel I, Canter HI, Topaloglu H, Erk Y
J Craniofac Surg 2006 Jul;17(4):656-60. doi: 10.1097/00001665-200607000-00008. PMID: 16877909
The effect of the Schwartz-Jampel syndrome on masticatory and facial musculatures--an electromyographic analysis.
Regalo SC, Vitti M, Semprini M, de Mattos Mda G, Hallak JE, Brandão C, Serrano KV
Electromyogr Clin Neurophysiol 2005 Apr-May;45(3):183-9. PMID: 15981691

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