Navigating Complexities With Multidisciplinary Team: A Case Report on col2a1-Related Skeletal Dysplasia and Its Treatment Challenges [Conference Winner Abstract]

Introduction COL2A1 gene encodes type II collagen, important for bones, joints growth. Variants in this gene lead to skeletal dysplasia; phenotypes vary from lethal to mild that influence prognosis, foreseen with genetic diagnosis, and control, mainly surgery or growth hormone therapy (rhGH). Spondyloepiphyseal dysplasia congenita (SEDC) is severe/moderately severe skeletal dysplasia with a phenotype of uneven body, short stature, abnormal epiphyses, flattened vertebral bodies. We report a patient with COL2A1 gene variant and SEDC phenotype, and successful multidisciplinary team (MDT) application. Case Presentation A 9-year-old male was admitted to geneticist due to phenotype being short stature -2 SDS, short waist, protruded thorax, lordosis, waddling gait, myopia. Whole exome sequencing showed heterozygotic likely pathogenic variant of COL2A1 gene, NM_001844.5:c.1601G>C, p.(Gly534Ala). It lead to SEDC diagnosis. Skeletal survey of pelvis and legs showed improper acetabula, superolateral femoral bones. Innate bilateral dislocation of hip joints was diagnosed. Stimulating growth hormone testing showed its deficiency. MDT of geneticist, endocrinologist, orthopedic-traumatologist decided to delay hip surgery, and keep growth hormone deficiency with rhGH therapy, as bones were still growing. Forward follow up showed a positive effect of this treatment. Discussion COL2A1 disorders are rare skeletal dysplasia with incidence of 3,4 in 1,000,000 [1]. Variants that lead to SEDC are often spontaneous [2]. In this case, phenotype was compatible with SEDC, yet some similar traits can be misled for other skeletal dysplasia [3]. Management of SEDC consists of surgical and nonsurgical procedures. It also includes rhGH therapy if growth hormone deficiency is proven; moreover, it increases growth velocity, decreases growth deficiency of the final height [4]. Conclusions There are no guidelines for the most rare skeletal dysplasias' management; holistic view and MDT formation is necessary for planning the most effective management plan for patient management with rare disease.