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Camurati-Engelmann disease

Other Names for this Disease
  • CED
  • Diaphyseal dysplasia 1, progressive
  • DPD1
  • Engelmann disease
  • PDD
More Names
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What are the symptoms of Camurati-Engelmann disease?

People with Camurati-Engelmann disease have increased bone density, particularly affecting the long bones of the arms and legs (tibia, femur, humerus, ulna, radius). In some cases, the skull and hip bones are also affected. The thickened bones can lead to pain in the arms and legs, a waddling walk, muscle weakness, and extreme tiredness. An increase in the density of the skull results in increased pressure on the brain and can cause a variety of neurological problems, including headaches, hearing loss, vision problems, dizziness (vertigo), ringing in the ears (tinnitus), and facial paralysis. The added pressure that thickened bones put on the muscular and skeletal systems can cause abnormal curvature of the spine (scoliosis), joint deformities (contractures), knock knees, and flat feet (pes planus). Other features of Camurati-Engelmann disease include abnormally long limbs in proportion to height, a decrease in muscle mass and body fat, and delayed puberty.[1][2] In the most severe cases, the mandibula (jaw), vertebrae, thoracic cage, shoulder girdle, and carpal (hands, wrist) and tarsal (foot, ankle) bones are involved.[3]

Radiographically (on X-ray), the shafts of long bones show symmetric and progressive widening and malformation (diaphyseal dysplasia). Vascular (Raynaud's phenomenon) and hematological (anemia, leukopenia (low level of white blood cells), increased erythrocyte sedimentation rate) features and hepatosplenomegaly are commonly associated with the disease.[2][3][4]

The age at which affected individuals first experience symptoms varies greatly; however, most people with this condition develop pain or weakness by adolescence.[1]
Last updated: 8/1/2013

  1. Camurati-Engelmann disease. Genetics Home Reference. April 2008; Accessed 4/17/2008.
  2. Camurati engelmann disease. Orphanet. February 2005; Accessed 4/17/2008.
  3. Katrien Janssens, Wendy Ballemans, Wim Van Hul. Camurati-Engelmann Disease. NORD Guide to Rare Disorders. 2003; Accessed 4/17/2008.
  4. Camurati-Engelmann Disease. National Organization for Rare Disorders (NORD). 2007; Accessed 4/17/2008.