The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.
|Signs and Symptoms||Approximate number of patients (when available)|
|Abnormality of the femur||90%|
|Abnormality of the humerus||90%|
|Abnormality of the ulna||90%|
|Aplasia/Hypoplasia of the radius||90%|
|Abnormality of the metaphyses||50%|
|Limitation of joint mobility||50%|
|Skeletal muscle atrophy||50%|
|Abnormal facial shape||7.5%|
|Abnormality of the genital system||7.5%|
|Abnormality of the hip bone||7.5%|
|Abnormality of the urinary system||7.5%|
|Delayed eruption of teeth||7.5%|
|Disproportionate tall stature||7.5%|
|Feeding difficulties in infancy||7.5%|
|Neurological speech impairment||7.5%|
|Autosomal dominant inheritance||-|
|Bone marrow hypocellularity||-|
|Cortical thickening of long bone diaphyses||-|
|Decreased subcutaneous fat||-|
|Optic nerve compression||-|
|Sclerosis of skull base||-|
Mutations in the TGFB1 gene cause Camurati-Engelmann disease. The TGFB1 gene provides instructions for producing a protein called transforming growth factor beta-1 (TGFβ-1). The TGFβ-1 protein helps control the growth and division (proliferation) of cells, the process by which cells mature to carry out specific functions (differentiation), cell movement (motility), and the self-destruction of cells (apoptosis). The TGFβ-1 protein is found throughout the body and plays a role in development before birth, the formation of blood vessels, the regulation of muscle tissue and body fat development, wound healing, and immune system function. TGFβ-1 is particularly abundant in tissues that make up the skeleton, where it helps regulate bone growth, and in the intricate lattice that forms in the spaces between cells (the extracellular matrix).
Within cells, the TGFβ-1 protein is turned off (inactive) until it receives a chemical signal to become active. The TGFB1 gene mutations that cause Camurati-Engelmann disease result in the production of a TGFβ-1 protein that is always turned on (active). Overactive TGFβ-1 proteins lead to increased bone density and decreased body fat and muscle tissue, contributing to the signs and symptoms of Camurati-Engelmann disease.
Some individuals with Camurati-Engelmnan disease do not have identified mutations in the TGFB1 gene. In these cases, the cause of the condition is unknown.
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I have had Camurati Engelmann disease since I was 5 years-old. I experience severe pain, headaches, and vision loss. Surgery has been recommended to treat the bone thickening in my skull. Will the skull bones grow back together following surgery? How can I learn more about medications, surgical procedures, and other treatments that have been effective in treating people Camurati Englemann disease? See answer
My mother-in-law was recently diagnosed with Camurati-Engelmann disease. Can you provide me with information about this condition? See answer