U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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).
 
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

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
Sawamoto K, Álvarez González JV, Piechnik M, Otero FJ, Couce ML, Suzuki Y, Tomatsu S
Int J Mol Sci 2020 Feb 23;21(4) doi: 10.3390/ijms21041517. PMID: 32102177Free PMC Article
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

Etiology

Kuliński W, Burak M, Michalska A
Wiad Lek 2018;71(7):1429-1432. PMID: 30448822
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
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
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
al Gazali LI
Clin Dysmorphol 1993 Jan;2(1):47-54. PMID: 8298738

Diagnosis

Gürbüz G, Albayrak HM
Turk J Pediatr 2019;61(6):967-970. doi: 10.24953/turkjped.2019.06.023. PMID: 32134596
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
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
Bastola P
Kathmandu Univ Med J (KUMJ) 2010 Jul-Sep;8(31):348-51. doi: 10.3126/kumj.v8i3.6227. PMID: 22610743
Kulkarni ML, Pillai R
Indian Pediatr 2004 Mar;41(3):285. PMID: 15064520

Therapy

Gürbüz G, Albayrak HM
Turk J Pediatr 2019;61(6):967-970. doi: 10.24953/turkjped.2019.06.023. PMID: 32134596
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
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
Kulkarni ML, Pillai R
Indian Pediatr 2004 Mar;41(3):285. PMID: 15064520
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

Kuliński W, Burak M, Michalska A
Wiad Lek 2018;71(7):1429-1432. PMID: 30448822
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
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
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
al Gazali LI
Clin Dysmorphol 1993 Jan;2(1):47-54. PMID: 8298738

Clinical prediction guides

Gürbüz G, Albayrak HM
Turk J Pediatr 2019;61(6):967-970. doi: 10.24953/turkjped.2019.06.023. PMID: 32134596
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
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
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
Cao A, Cianchetti C, Calisti L, de Virgiliis S, Ferreli A, Tangheroni W
J Neurol Sci 1978 Feb;35(2-3):175-87. doi: 10.1016/0022-510x(78)90001-1. PMID: 632828

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...