spondyloepimetaphyseal dysplasia with joint laxity type 1

A spondyloepimetaphyseal dysplasia with joint laxity characterized by vertebral abnormalities and ligamentous laxity that result in spinal misalignment and progressive severe kyphoscoliosis, thoracic asymmetry, and respiratory compromise that has_material_basi

A spondyloepimetaphyseal dysplasia with joint laxity characterized by vertebral abnormalities and ligamentous laxity that result in spinal misalignment and progressive severe kyphoscoliosis, thoracic asymmetry, and respiratory compromise that has_material_basis_in homozygous or compound heterozygous mutation in the B3GALT6 gene on chromosome 1p36.33.

Signs and symptoms

• Severe short stature
• Short metacarpal
• Kyphoscoliosis
• Platyspondyly
• Hyperplasia of the femoral trochanters
• Flared metaphysis
• Large iliac wing
• Atrial septal defect
• Hypoplastic iliac body
• Myopia

Also known as: SEMDJL1; spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures