spondylocostal dysostosis 4

A spondylocostal dysostosis that has_material_basis_in heterozygous or compound homozygous mutation in the HES7 gene on chromosome 17p13.1.

Signs and symptoms

• Anal stenosis
• Chiari type II malformation
• Bell-shaped thorax
• Short thorax
• Reduced forced vital capacity
• Hemivertebrae
• Reduced forced expiratory volume in one second
• Hydrocephalus
• Vertebral segmentation defect
• Neurogenic bladder

Also known as: SCDO4; autosomal recessive spondylocostal dysostosis 4