Spondylometaphyseal dysplasia- axial
Spondylometaphyseal dysplasia, axial: A rare skeletal disorder involving abnormal bone development. The condition is characterized by flattened vertebrae, small rib cage, abnormal ribs and other bone abnormalities.
* Flattened vertebrae * Small rib cage * Cupped end of ribs * Irregular growing portion at top of thigh bone * Irregular edges on iliac wings * Retinitis pigmentosa * Optic atrophy * Short arms * Short legs * Vertebral abnormalities
* Flattened vertebrae * Optic atrophy * Retinitis pigmentosa * Short arms * Short legs * Vertebral abnormalities