A rare case of spondyloepimetaphyseal dysplasia with joint laxity, type 3 (EXOC6B gene) (SEMDJL3)

Neelam Sharma; Urvi Dantaliya

doi:10.18203/2349-3291.ijcp20261924

Authors

Neelam Sharma Department of Pediatrics, GMERS Medical College, Junagadh, Gujarat, India
Urvi Dantaliya Department of Pediatrics, GMERS Medical College, Junagadh, Gujarat, India

DOI:

https://doi.org/10.18203/2349-3291.ijcp20261924

Keywords:

Spondyloepimetaphyseal dysplasia with joint laxity type 3, Ultra rare, EXOC6B gene

Abstract

Spondyloepimetaphyseal dysplasia with joint laxity, type 3 (SEMDJL3) is an ultra-rare condition, inherited in autosomal recessive manner caused by mutations in EXOC6B gene, encoding a component of the exocyst complex, crucial for cell growth and exocytosis. It is characterized by multiple joint dislocations, joint laxity, genu valgum, short stature, and skeletal dysplasia. There are approximately 6 confirmed cases reported worldwide and only one or two cases in India. Patient presented with complain of not gaining height and was later diagnosed with SEMDJL3.This case review aims to increase awareness of this rare disorder, which remains underdiagnosed due to the scarcity of documented cases and some overlap with other syndromes.

References

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