Rare Psychiatry News
Advertisement
Disease Profile
Camurati-Engelmann disease
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
Unknown
Age of onset
Childhood
ICD-10
Q78.3
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
CED; Diaphyseal dysplasia 1, progressive; DPD1;
Categories
Congenital and Genetic Diseases; Musculoskeletal Diseases
Summary
Camurati-Engelmann disease is a genetic condition that mainly affects the bones. People with this disease have increased bone density, particularly affecting the long bones of the arms and legs. 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. The age that symptoms begin varies greatly, but most people with this condition develop pain or weakness by adolescence.[1]
Camurati-Engelmann disease is caused by a
Treatment for Camurati-Engelman disease depends on many factors including the signs and symptoms present in each person and the severity of the condition.[3] Treatment options to control symptoms may include
Symptoms
Radiographically (on
The age at which affected individuals first experience symptoms varies greatly; however, most people with this condition develop pain or weakness by adolescence.[1]
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
Medical Terms | Other Names |
Learn More:
HPO ID
|
||
---|---|---|---|---|
80%-99% of people have these symptoms | ||||
Abnormality of the humerus | 0003063 | |||
Abnormality of the ulna | 0002997 | |||
Aplasia/Hypoplasia of the radius | 0006501 | |||
Bone pain | 0002653 | |||
Cachexia |
Wasting syndrome
|
0004326 | ||
Cortical thickening of long bone diaphyses | 0005791 | |||
Craniofacial osteosclerosis | 0005464 | |||
Elevated aldolase level | 0012544 | |||
Hyperostosis |
Bone overgrowth
|
0100774 | ||
30%-79% of people have these symptoms | ||||
Abnormality of tibia morphology |
Abnormality of the shankbone
Abnormality of the shinbone
[ more ] |
0002992 | ||
Limitation of joint mobility |
Decreased joint mobility
Decreased mobility of joints
Limited joint mobility
Limited joint motion
[ more ] |
0001376 | ||
Metaphyseal dysplasia | 0100255 | |||
Skeletal muscle atrophy |
Muscle degeneration
Muscle wasting
[ more ] |
0003202 | ||
Waddling gait |
Waddling walk
'Waddling' gait
[ more ] |
0002515 | ||
5%-29% of people have these symptoms | ||||
Abnormal facial shape |
Unusual facial appearance
|
0001999 | ||
Abnormal subcutaneous fat |
Abnormal fat tissue distribution below the skin
|
0007552 | ||
Abnormality of |
Abnormal shape of pelvic girdle bone
|
0002644 | ||
Anemia |
Low number of red blood cells or hemoglobin
|
0001903 | ||
Anorexia | 0002039 | |||
0001251 | ||||
Carious teeth |
Dental cavities
Tooth cavities
Tooth decay
[ more ] |
0000670 | ||
Coxa valga | 0002673 | |||
Delayed eruption of teeth |
Delayed eruption
Delayed teeth eruption
Delayed tooth eruption
Eruption, delayed
Late eruption of teeth
Late tooth eruption
[ more ] |
0000684 | ||
Delayed puberty |
Delayed pubertal development
Delayed pubertal growth
Pubertal delay
[ more ] |
0000823 | ||
Elevated |
High ESR
|
0003565 | ||
Facial palsy |
Bell's palsy
|
0010628 | ||
Feeding difficulties in infancy | 0008872 | |||
Frontal bossing | 0002007 | |||
Genu valgum |
Knock knees
|
0002857 | ||
0000501 | ||||
Hearing impairment |
Deafness
Hearing defect
[ more ] |
0000365 | ||
Hepatomegaly |
Enlarged liver
|
0002240 | ||
Hyperlordosis |
Prominent swayback
|
0003307 | ||
Hypertrophic |
Enlarged and thickened heart muscle
|
0001639 | ||
Decreased activity of gonads
|
0000135 | |||
Kyphosis |
Hunched back
Round back
[ more ] |
0002808 | ||
Leukopenia |
Decreased blood leukocyte number
Low white blood cell count
[ more ] |
0001882 | ||
Neurological speech impairment |
Speech disorder
Speech impairment
Speech impediment
[ more ] |
0002167 | ||
Optic atrophy | 0000648 | |||
Optic nerve compression | 0007807 | |||
Pes planus |
Flat feet
Flat foot
[ more ] |
0001763 | ||
Proptosis |
Protruding eyes
Prominent globes
Prominent eyes
Eyeballs bulging out
Bulging eye
[ more ] |
0000520 | ||
Scoliosis | 0002650 | |||
Sensory neuropathy |
Damage to nerves that sense feeling
|
0000763 | ||
Slender build |
Thin build
|
0001533 | ||
Splenomegaly |
Increased spleen size
|
0001744 | ||
Urinary retention | 0000016 | |||
1%-4% of people have these symptoms | ||||
Easy fatigability | 0003388 | |||
Limb pain | 0009763 | |||
Lower limb pain |
Leg pain
|
0012514 | ||
Muscle weakness |
Muscular weakness
|
0001324 | ||
Percent of people who have these symptoms is not available through HPO | ||||
0000006 | ||||
Bone marrow hypocellularity |
Bone marrow failure
|
0005528 | ||
Diaphyseal sclerosis |
Increased bone density in shaft of long bone
|
0003034 | ||
Diplopia |
Double vision
|
0000651 | ||
Headache |
Headaches
|
CauseWithin 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.[1] 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.[1] Diagnosis Diagnosis of Camurati-Engelmann disease is based on physical examination and radiographic findings and can be confirmed by molecular genetic testing. TGFB1 is the only
Individuals with a Testing Resources
Treatment Treatment for Camurati-Engelmann disease depends on the symptoms and severity in each person. Several medications, including
More recently, losartan, an angiotensin II type 1 receptor antagonist, has been reported to reduce limb pain and increase muscle strength in multiple case reports.[6][7] However, the use of losartan needs more study to determine if it is effective and safe for those with CED. Exercise programs, when tolerated, have also been found to be beneficial.[6][7] Surgical procedures may also be needed in people with CES. Craniectomy, which involves removing a portion of the skull to relieve pressure on the brain, may be needed to reduce intracranial pressure and relieve symptoms in some people. Myringotomy, a procedure used to relieve pressure within the middle ear, may improve conductive Ongoing surveillance by various specialists may be needed to monitor signs and symptoms and make sure medical therapies remain safe to use. Depending on each person's symptoms and treatment, a person with CES may need periodic blood pressure checks, blood tests, neurologic exams, hearing evaluations, eye exams, bone density scans, or other types of surveillance. Children with CES should have routine growth monitoring, and those with cranial involvement (including those treated surgically) should continue to be monitored for signs and symptoms of increased intracranial pressure.[3] Please note: Case reports detail the signs and symptoms in individual cases. It is important to keep in mind that the features documented in these case reports are based on specific individuals and may not necessarily apply to others with the same disease. Related diseasesRelated diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
OrganizationsSupport and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD. Learn moreThese resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional. Where to Start
In-Depth Information
References
Rare Psychiatry News |