Spondyloepimetaphyseal dysplasia, Maroteaux type

Spondyloepimetaphyseal dysplasia, Maroteaux type (also known as SEMD Maroteaux type or spondyloepimetaphyseal dysplasia, Maroteaux pseudo-Morquio type) is a rare inherited skeletal disorder characterized by abnormal development of the vertebrae (spondylo-), the ends of long bones (epiphyses), and the growth plates (metaphyses). This condition primarily affects the skeletal system, leading to disproportionate short stature that typically becomes apparent in early childhood. Key clinical features include short trunk dwarfism, platyspondyly (flattened vertebral bodies), genu valgum (knock knees), waddling gait, and generalized epimetaphyseal abnormalities visible on radiographic imaging. The limbs may appear relatively long compared to the trunk. Progressive joint involvement, including enlargement and stiffness of certain joints, may occur over time. Spinal abnormalities such as kyphosis or lordosis can also develop. The condition is caused by mutations in the TRPV4 gene, which encodes a calcium-permeable ion channel involved in skeletal development and bone homeostasis. The TRPV4 gene is associated with a spectrum of skeletal dysplasias. Diagnosis is based on clinical and radiographic findings, and can be confirmed through molecular genetic testing. There is currently no cure or disease-specific treatment for SEMD Maroteaux type. Management is supportive and symptomatic, focusing on orthopedic interventions for skeletal complications, physical therapy to maintain mobility, and regular monitoring for progressive deformities. Pain management and surgical correction of significant limb malalignment or spinal deformities may be necessary in some cases. Patients benefit from multidisciplinary care involving geneticists, orthopedic surgeons, and rehabilitation specialists.

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