Individuals with<unk>  are often asymptomatic, but some may present with symptoms including back pain, difficulty walking, and stiffness of the spine, including neck and back, with kyphosis. Kyphosis can progress to angles of up to 85 degrees. Complete bony ankylosis occurs as the disease progresses over the years. Radiological findings may show anterior deformities in end plates, which is related to narrowing between vertebrae in specific areas. Erosion and irregularity of corresponding end plates is also seen. This is followed by fusion, however fusion is usually not seen in the posterior disc space except in later stages of the disease. Signs and Symptoms Very frequent Occasional * Abnormality of the intervertebral disk * Abnormality of the vertebral column * Brachycephaly * Depressed nasal bridge * Downslanted palpebral fissures * Flat face * Hemivertebrae * Hypertelorism * Kyphosis * Large hands * Micrognathia * Round face * Scoliosis * Short philtrum * Thickened skin * Thin vermilion border * Wide mouth * Wide nasal bridge * Abdominal situs inversus * Abnormal facial shape * Bone pain * Exostoses * Joint stiffness * Morphological abnormality of the central nervous system * Proximal radio-ulnar synostosis * Spinal rigidity * Tall stature
Copenhagen disease
TRIANGLE disease
CHAI disease
Upington disease
BENTA disease
Caplan's syndrome
Senior–Løken syndrome
Erdheim–Chester disease