Clinical Description of Schwartz–Jampel Syndrome Types 1 and 2
DOI:
https://doi.org/10.61788/njn.v2i28.08Keywords:
Schwartz–Jampel syndrome, Stüve–Viedemann syndrome, thermoregulation, autonomic dysfunction, myotonic face, skeletal dysplasia, medical-genetic counselingAbstract
Schwartz–Jampel syndrome (SJS) is a rare autosomal recessive disorder and is divided into two types: type 1 related to the HSPG2 gene, and type 2 associated with mutations in the LIFR gene. Classically, type 2 is characterized by severe course and lethality in the neonatal period. In our observation, two clinical cases of SJS type 1 and type 2 were compared. The type 2 patient suffered from neonatal hypotonia, seizures, and developmental delay, and whole-exome sequencing confirmed a homozygous mutation in the LIFR gene. Contrary to expectations, the patient survived up to the age of 3 and acquired certain motor skills. In the type 1 patient, long-term progression was accompanied by severe orthopedic complications, contractures, and kyphoscoliosis, while intellectual ability was preserved. These cases show that type 2 may not always be lethal, whereas type 1 can lead to severe orthopedic disability. The results emphasize the importance of molecular genetic testing and prenatal diagnostics in the detection of rare diseases.
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