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Schwartz-Jampel syndrome(SJS1)

MedGen UID:
19892
•Concept ID:
C0036391
•
Disease or Syndrome
Synonyms: Myotonic myopathy dwarfism chondrodystrophy and ocular and facial abnormalities; Schwartz Jampel syndrome type 1; SJS1
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]

Recent clinical studies

Etiology

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
Multidisciplinary approach to the treatment of a patient with chondrodystrophic myotonia (Schwartz-Jampel vel Aberfeld syndrome): case report and literature review.
Nessler M, Puchala J, Kwiatkowski S, Kobylarz K, Mojsa I, Chrapusta-Klimeczek A
Ann Plast Surg 2011 Sep;67(3):315-9. doi: 10.1097/SAP.0b013e3181fac1ec. PMID: 21263291
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
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

Diagnosis

Schwartz-Jampel Syndrome.
Mathur N, Ghosh PS
Pediatr Neurol 2017 Mar;68:77-78. Epub 2017 Jan 4 doi: 10.1016/j.pediatrneurol.2016.12.007. PMID: 28129933
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
Schwartz-Jampel syndrome.
Bastola P
Kathmandu Univ Med J (KUMJ) 2010 Jul-Sep;8(31):348-51. doi: 10.3126/kumj.v8i3.6227. PMID: 22610743
Schwartz-Jampel syndrome.
Kulkarni ML, Pillai R
Indian Pediatr 2004 Mar;41(3):285. PMID: 15064520
The Schwartz-Jampel syndrome.
al Gazali LI
Clin Dysmorphol 1993 Jan;2(1):47-54. PMID: 8298738

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
Clinico-pathogenetic findings and management of chondrodystrophic myotonia (Schwartz-Jampel syndrome): a case report.
Ho NC, Sandusky S, Madike V, Francomano CA, Dalakas MC
BMC Neurol 2003 Jul 2;3:3. doi: 10.1186/1471-2377-3-3. PMID: 12839625Free PMC Article

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
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
Neonatal Schwartz-Jampel syndrome: a common autosomal recessive syndrome in the United Arab Emirates.
Al-Gazali LI, Varghese M, Varady E, Al Talabani J, Scorer J, Bakalinova D
J Med Genet 1996 Mar;33(3):203-11. doi: 10.1136/jmg.33.3.203. PMID: 8728692Free PMC Article
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
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 type 2 and Stüve-Wiedemann syndrome: a case for "lumping".
Superti-Furga A, Tenconi R, Clementi M, Eich G, Steinmann B, Boltshauser E, Giedion A
Am J Med Genet 1998 Jun 30;78(2):150-4. doi: 10.1002/(sici)1096-8628(19980630)78:2<150::aid-ajmg10>3.0.co;2-m. PMID: 9674906
Modification in the expression and localization of contractile and cytoskeletal proteins in Schwartz-Jampel syndrome.
Soussi-Yanicostas N, Ben Hamida C, Butler-Browne GS, Hentati F, Bejaoui K, Ben Hamida M
J Neurol Sci 1991 Jul;104(1):64-73. doi: 10.1016/0022-510x(91)90217-u. PMID: 1919599

Supplemental Content

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