Arthrogryposis multiplex congenita (AMC), or simply arthrogryposis, describes congenital joint contracture in two or more areas of the body. It derives its name. Artrogripose Múltipla Congénita associada a alterações – intraorais abordagem Arthrogryposis Multiplex Congenita (AMC) is a rare congenital disorder,1. Arthrogryposis multiplex congenita neurogenic type (AMCN) refers to the development of multiple joint contractures affecting two or more areas of the body prior.
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Orphanet: Artrogripose m ltipla face em assobio congenita
Bruck syndrome is characterised by the association of osteogenesis imperfecta and congenital joint contractures. Features include osteoporosis and bone fragility, progressive joint contractures sometimes associated with pterygia, wormian bones, scoliosis due to vertebral deformities and short stature.
Mental development is normal. The syndrome is genetically heterogeneous: 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 Bruck syndrome is characterised by the association of osteogenesis imperfecta and congenital joint contractures. Osteogenesis imperfecta-congenital joint contractures syndrome Prevalence: Summary Epidemiology Prevalence is unknown but less than 40 cases have been reported in the literature so far.
Clinical description Features include osteoporosis and bone fragility, progressive joint contractures sometimes associated with pterygia, wormian bones, scoliosis due to vertebral deformities and short stature.
Etiology The syndrome is genetically heterogeneous: Genetic counseling Transmission is autosomal recessive. Additional information Further information on this disease Classification s 4 Gene s 2 Clinical signs and symptoms Publications in PubMed Other website s 1.
Health care resources for this disease Expert centres Diagnostic tests 30 Patient organisations 25 Orphan drug s 0. Congejita 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.