Diseases of the nervous system
Diseases of myoneural junction and muscle
Autosomal recessive
1p36.1
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.
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 255800.1.1 | Tunisia | Male | Yes | Yes | Myotonia; Blepharophimosis; Short stat... Myotonia; Blepharophimosis; Short stature  | NM_005529.7:c.8464+4A>G | Homozygous | Autosomal, Recessive | Nicole et al. 2000 | |
| 255800.1.2 | Tunisia | Female | Yes | Yes | Myotonia; Blepharophimosis; Short st... Myotonia; Blepharophimosis; Short stature | NM_005529.7:c.8464+4A>G | Homozygous | Autosomal, Recessive | Nicole et al. 2000 | Sister of 255800.1.1 |
| 255800.1.3 | Tunisia | Male | Yes | Yes | Myotonia; Blepharophimosis; Short ... Myotonia; Blepharophimosis; Short stature | NM_005529.7:c.8464+4A>G | Homozygous | Autosomal, Recessive | Nicole et al. 2000 | Brother of 255800.1.... |
| 255800.2 | Saudi Arabia | Female | Yes | Yes | Hirsutism; Short neck; Full cheeks; Narr... Hirsutism; Short neck; Full cheeks; Narrow mouth; Pursed lips | NM_005529.7:c.11208-7G>A | Homozygous | Autosomal, Recessive | Maddirevula et al. 2018 | |
| 255800.3 | Saudi Arabia | Male | Yes | Skeletal dysplasia; Short stature; Intra... Skeletal dysplasia; Short stature; Intrauterine growth retardation; Epicanthus | NM_005529.7:c.11000C>T | Homozygous | Autosomal, Recessive | Maddirevula et al. 2018 | ||
| 255800.G.1 | Tunisia | Yes | Yes | Myotonia; Blepharophimosis; Short stat... Myotonia; Blepharophimosis; Short stature | NM_005529.6:c.4740G>A | Homozygous | Autosomal, Recessive | Nicole et al. 2000 | Family with unknown ... |
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]
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.
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