metatropic dysplasia

A spondyloepimetaphyseal dysplasia characterized by short limbs with limitation and enlargement of joints, usually severe and progressive kyphoscoliosis, severe platyspondyly, and severe metaphyseal enlargement that has_material_basis_in heterozygous mutation

A spondyloepimetaphyseal dysplasia characterized by short limbs with limitation and enlargement of joints, usually severe and progressive kyphoscoliosis, severe platyspondyly, and severe metaphyseal enlargement that has_material_basis_in heterozygous mutation in the TRPV4 gene on chromosome 12q24.11.

Signs and symptoms

• Enlarged joints
• Hypoplasia of the odontoid process
• Flexion contracture
• Dumbbell-shaped metaphyses
• Platyspondyly
• Flared metaphysis
• Narrow greater sciatic notch
• Dumbbell-shaped femur
• Scoliosis
• Cone-shaped epiphysis

Also known as: metatropic dwarfism