spondylocarpotarsal synostosis syndrome

A bone development disease that is characterized by postnatal progressive vertebral fusions frequently manifesting as block vertebrae, contributing to an undersized trunk and a disproportionate short stature, scoliosis, lordosis, carpal and tarsal synostosis,

A bone development disease that is characterized by postnatal progressive vertebral fusions frequently manifesting as block vertebrae, contributing to an undersized trunk and a disproportionate short stature, scoliosis, lordosis, carpal and tarsal synostosis, with club feet and a mild facial dysmorphism, and that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the filamin B (FLNB) gene on chromosome 3p14.3.

Signs and symptoms

• Preauricular skin tag
• Limited elbow extension
• Hypoplasia of the odontoid process
• Anteverted nares
• Brachydactyly
• Inguinal hernia
• Short nose
• Scapular winging
• Broad face
• Short metacarpal

Also known as: SCT; congenital scoliosis with unilateral unsegmented bar; congenital synspondylism; spondylocarpotarsal syndrome; spondylocarpotarsal synostosis