SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome

SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome (spEDS-SLC39A13), also known as spondylodysplastic Ehlers-Danlos syndrome type 3 or formerly Ehlers-Danlos syndrome spondylocheiro dysplastic type, is an extremely rare inherited connective tissue disorder caused by biallelic pathogenic variants in the SLC39A13 gene, which encodes a zinc transporter (ZIP13). This protein plays a critical role in intracellular zinc homeostasis, which is essential for proper collagen and other connective tissue protein processing. The condition affects multiple body systems, particularly the skeletal, dermatological, and musculoskeletal systems. Key clinical features include short stature, platyspondyly (flattened vertebral bodies), osteopenia, hyperextensible and thin skin that bruises easily, joint hypermobility (particularly of the hands), tapering fingers, and characteristic facial features including prominent eyes and a thin upper lip. Patients may also exhibit protuberant abdomen, thenar muscle atrophy, and delayed motor development. Dental abnormalities and blue sclerae have been reported in some individuals. Radiographic findings often reveal metaphyseal widening of long bones and irregular vertebral endplates. There is currently no cure or disease-specific treatment for SLC39A13-related spEDS. Management is supportive and multidisciplinary, focusing on monitoring bone density, physical therapy to support joint stability and muscle strength, and surveillance for skeletal complications. Genetic counseling is recommended for affected families. Only a small number of patients have been described in the medical literature, making this one of the rarest subtypes of Ehlers-Danlos syndrome.

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