CAMURATI-ENGELMANN DISEASE PDF

Disease definition. Camurati-Englemann disease (CED) is a rare, clinically variable bone dysplasia syndrome characterized by hyperostosis of the long bones. Camurati–Engelmann disease (CED) is a very rare autosomal dominant genetic disorder that causes characteristic anomalies in the is also known as. A number sign (#) is used with this entry because of evidence that Camurati- Engelmann disease results from domain-specific heterozygous mutations in the.

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For all other comments, please send your remarks via contact us. Only comments written in English can be processed. Camurati-Englemann disease CED is a rare, clinically variable bone dysplasia syndrome characterized by hyperostosis of the long bones, skull, spine and pelvis, associated with severe pain in the extremities, a wide-based waddling gait, joint contractures, muscle weakness and easy fatigability.

The prevalence camurati-engslmann unknown but more than cases have been reported to date.

Rare Disease Database

Camjrati-engelmann has been described in various ethnic groups, and males and females are affected equally. Most of the clinical signs are related to hyperostosis and sclerosis. The age of onset and severity are highly variable, even within the same family.

The average age of onset is about 13 years and almost always before 30 years.

Camurati–Engelmann disease – Wikipedia

Patients generally present with pain in the extremities, waddling gait, easy fatigability, and muscle weakness. Pain may be severe, constant and aching and is exacerbated by cold weather and physical activity.

Other signs include decreased muscle mass, joint contractures, and sometimes marfanoid body habitus. Later in life, severely affected individuals may present facial abnormalities such as frontal bossing and enlarged mandible, as well as facial camuratl-engelmann. Other signs of musculoskeletal involvement include lumbar lordosis, kyphosis, scoliosis, coxa valga, genu valgum, and flat feet. Involvement of the orbit may lead to proptosis, papilledema, epiphora, glaucoma, and subluxation of the globe.

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Occasional associated systemic features include anemia, leukocytopenia, and hepatosplenomegaly. Rare signs camurati-engslmann sensory loss, slurred speech, dysphagia, cerebellar ataxia, anorexia, decreased subcutaneous tissue, hyperhidrosis of the extremities, delayed dentition, extensive dental caries, delayed puberty, hypogonadism and bladder incontinence.

Diagnosis of CED is based on the clinical and radiographic signs and can be confirmed by molecular genetic testing. CED should be suspected in patients with proximal muscle weakness and hyperostosis of one or more of the long bones on radiographic imaging.

The radiographic hallmark of the disorder is bilateral, sometimes symmetrical, periosteal and endosteal bony sclerosis of the diaphyses of long bones resulting in cortical thickening.

Camurati–Engelmann disease

Skull, spine and pelvic involvement may be found on radiographic examination. Camurati-Engelmann disease has characteristic clinical and radiological findings, reducing the need for extensive differential diagnosis.

Disorders to consider include craniodiaphyseal dysplasia, autosomal dominant Kenny-Caffey syndrome, juvenile Paget disease, Ghosal hematodiaphyseal dysplasia, Worth type autosomal dominant osteosclerosis, sclerosteosis and hyperostosis corticalis generalisata see these terms. Prenatal diagnosis for at-risk pregnancies is possible when the disease-causing mutation has been identified in a family.

CED is inherited as an autosomal dominant trait with reduced penetrance. The number of cases caused by de novo mutations is not known.

Reduced penetrance complicates genetic counseling. No disease-modifying treatment is available.

Corticosteroids are reported to relieve the symptoms of CED. Analgesics and non-pharmacological methods can be used to treat pain. NSAIDs and bisphosphonates have been found to be ineffective. CED is a progressive disorder and prognosis is poor. Depending on the severity, quality of life is impaired by pain and reduced mobility.

Other search option s Alphabetical list. Summary and related texts. Check this box if you wish to receive a copy of your message. Disease definition Camurati-Englemann disease CED diseaae a rare, clinically diseawe bone dysplasia syndrome characterized by hyperostosis of the long bones, skull, spine and pelvis, associated with severe pain in the extremities, a wide-based waddling gait, joint contractures, muscle weakness and easy fatigability.

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Progressive diaphyseal dysplasia Prevalence: Summary Epidemiology The prevalence is unknown but more than cases have been reported to cwmurati-engelmann. Clinical description Most of the clinical signs are related to hyperostosis and sclerosis. Diagnostic methods Diagnosis of CED is based on the clinical and radiographic signs and can be confirmed by molecular genetic testing. Differential diagnosis Camurati-Engelmann disease has characteristic clinical and radiological findings, reducing the need for extensive differential diagnosis.

Antenatal diagnosis Prenatal diagnosis for at-risk camurati-eneglmann is possible when the disease-causing mutation has been identified in a family. Genetic counseling CED is inherited as an autosomal dominant trait with reduced penetrance. Management and treatment No disease-modifying treatment is available. Prognosis CED is a progressive disorder and prognosis is poor. Detailed information Professionals Summary information Russianpdf Clinical genetics review English Additional information Further information on this disease Classification s 3 Gene s 1 Clinical signs and symptoms Publications in PubMed Other website s 5.

Health care resources for this disease Expert centres Diagnostic tests 12 Patient organisations 23 Orphan drug s 0. Specialised Social Services Eurordis directory.

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.