Schwartz-Jampel Syndrome, Type 1

Alternative Names

  • SJS1
  • Schartz-Jampel Syndrome
  • SJS
  • Myotonic Myopathy, Dwarfism, Chondrodystrophy, and Ocular and Facial Abnormalities
  • Schartz-Jampel-Aberfelt Syndrome
  • SJA Syndrome
  • Chondrodystrophic Myotonia
  • Myotonic Chondrodystrophy
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WHO-ICD-10 version:2010

Diseases of the nervous system

Diseases of myoneural junction and muscle

OMIM Number

255800

Mode of Inheritance

Autosomal recessive

Gene Map Locus

1p36.1

Description

Schwartz-Jampel syndrome is characterized by a considerable variety of features with most children first demonstrating signs in late infancy. Symptoms include: sekeletal dysplasia, myotonia with mask-like face, blepharophimosis, microstomia, and growth retardation.

Schwartz-Jampel syndrome type 1 (SJS1) is associated with mutations in HSPG2  gene.

Epidemiology in the Arab World

View Map
Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
255800.1.1TunisiaMaleYesYes Myotonia; Blepharophimosis; Short stat...NM_005529.7:c.8464+4A>GHomozygousAutosomal, RecessiveNicole et al. 2000
255800.1.2TunisiaFemaleYesYes Myotonia; Blepharophimosis; Short st...NM_005529.7:c.8464+4A>GHomozygousAutosomal, RecessiveNicole et al. 2000 Sister of 255800.1.1
255800.1.3TunisiaMaleYesYes Myotonia; Blepharophimosis; Short ...NM_005529.7:c.8464+4A>GHomozygousAutosomal, RecessiveNicole et al. 2000 Brother of 255800.1....
255800.2Saudi ArabiaFemaleYesYes Hirsutism; Short neck; Full cheeks; Narr...NM_005529.7:c.11208-7G>AHomozygousAutosomal, RecessiveMaddirevula et al. 2018
255800.3Saudi ArabiaMaleYes Skeletal dysplasia; Short stature; Intra...NM_005529.7:c.11000C>THomozygousAutosomal, RecessiveMaddirevula et al. 2018
255800.G.1TunisiaYesYes Myotonia; Blepharophimosis; Short stat...NM_005529.6:c.4740G>AHomozygousAutosomal, RecessiveNicole et al. 2000 Family with unknown ...

Other Reports

Egypt

Meguid et al (1998) reported, for the first time in Egypt, five cases from three different families with Schwartz-Jampel Syndrome (SJS). 

[Meguid NA, Temtamy SA, Talaat FM, Abdel Kader AA, El Harouny AA. Clinical, Genetic, Immunologic and Therapeutic Studies of Schwartz- Jampel Syndrome in Egypt. Egypt J Neurol Psychiat Neurosurg.1998; 35(1&2):44-52]

Oman

Al-Gazali et al. (1996) reported 11 children in 5 families, four of Omani origin, with severe neonatal Schwartz-Jampel Syndrome. 

Rajab et al. (2005) undertook a study to estimate the prevalence of commonly diagnosed autosomal recessive diseases in Oman from a hospital-based register in years 1993 to 2002. The study revealed that Schwartz Jampel syndrome was diagnosed in 15 patients, with an observed incidence of 1 in 30,000 births. Similarly, Sawardekar (2005) conducted a study to establish the prevalence of major congenital malformations in children born during a 10-year period in an Omani hospital in Nizwa. Of the 21,988 total births in the hospital, one child was born with the neonatal variant form of Schwartz Jampel Syndrome. 

United Arab Emirates

Al Gazali (1993) reported three sibs, two females and one male, of a family of United Arab Emirates origin with severe manifestation of Schwartz-Jampel Syndrome. In 1996, the total number of children with neonatal Schwartz-Jampel Syndrome reported from the United Arab Emirates was estimated to be 14; this was enough reason for Al-Gazali et al. (1996) to suggest that Schwartz-Jampel syndrome is fairly common in the population of the United Arab Emirates

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