Geleophysic Dysplasia with Novel ADAMTSL2 Compound Heterozygous Mutations: A Case Report of Progressive Skeletal Dysplasia with Multisystem Involvement

Background/Objectives: Geleophysic dysplasia is an extremely rare autosomal recessive skeletal dysplasia characterized by short stature, joint contractures, and distinctive facial features. Most cases result from ADAMTSL2 mutations affecting extracellular matrix organization. With fewer than 100 documented cases worldwide, long-term clinical data remains limited. This report documents a comprehensive 25-year follow-up to expand phenotypic understanding. Case Presentation: We report a 29-year-old Taiwanese woman with progressive short stature (141.2 cm), severe joint contractures, thoracolumbar scoliosis, and tip-toe gait. Notable manifestations included bilateral absolute glaucoma at age 26, mild mitral valve prolapse, and os odontoideum. Whole-exome sequencing revealed compound heterozygous ADAMTSL2 mutations: c.286C>T (p.Arg96Trp) and c.454_459del (p.Cys152_Thr153del), confirming molecular diagnosis with autosomal recessive inheritance. Discussion: This case demonstrates progressive disease nature and expands the phenotypic spectrum to include bilateral glaucoma as a previously unreported complication. Patient survival to adulthood with preserved intellectual function contrasts with reported 33% early mortality, suggesting variable severity within ADAMTSL2 mutations. These findings necessitate incorporating ophthalmologic surveillance into standard management protocols. Conclusions: This 25-year longitudinal follow-up represents one of the longest documented geleophysic dysplasia cases. The identification of bilateral glaucoma highlights the need for systematic ophthalmologic evaluation in ADAMTSL2 mutation patients, emphasizing multidisciplinary management including orthopedic, cardiac, and ophthalmologic surveillance for optimal patient outcomes.