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Developmental Foot Deformities in Patients with Connective Tissue Disorders. 2023

Basit Mir, and Karim Gaber, and Daniel Ghali, and Bouchra Ghania Merabia, and Celina Lin, and Waleed Kishta
Ashford and St. Peter's Hospitals NHS Foundation Trust, Chertsey, Surrey, United Kingdom.

Foot deformities make up a large percentage of all orthopaedic complaints in patients with Down syndrome, Marfan syndrome, Ehlers-Danlos syndrome, Larsen syndrome, and osteogenesis imperfecta. Some common causes of foot deformities in these conditions include increased ligament laxity, hypotonia, and hypermobility of the joints. Treatment options for syndromic foot deformities include the use of foot orthoses, physical therapy, bracing, and various surgical procedures. There is limited evidence supporting the use of surgical intervention to correct foot deformities associated with Down syndrome, Marfan syndrome, Ehlers-Danlos syndrome, Larsen syndrome, and osteogenesis imperfecta. Therefore, further research is needed to determine the short-term and long-term outcomes of these procedures.

UI MeSH Term Description Entries
D007593 Joint Instability Lack of stability of a joint or joint prosthesis. Hypermobility, Joint,Instability, Joint,Laxity, Joint,Hypermobilities, Joint,Instabilities, Joint,Joint Hypermobilities,Joint Hypermobility,Joint Instabilities,Joint Laxities,Joint Laxity,Laxities, Joint
D008382 Marfan Syndrome An autosomal dominant disorder of CONNECTIVE TISSUE with abnormal features in the heart, the eye, and the skeleton. Cardiovascular manifestations include MITRAL VALVE PROLAPSE; AORTIC ANEURYSM; and AORTIC DISSECTION. Other features include lens displacement (ectopia lentis), disproportioned long limbs and enlarged DURA MATER (dural ectasia). Marfan syndrome (type 1) is associated with mutations in the gene encoding FIBRILLIN-1 (FBN1), a major element of extracellular microfibrils of connective tissue. Mutations in the gene encoding TYPE II TGF-BETA RECEPTOR (TGFBR2) are associated with Marfan syndrome type 2. Marfan Like Connective Tissue Disorder,Marfan Syndrome Type 1,Marfan Syndrome Type 2,Marfan Syndrome, Type II,Marfan Syndrome, Type I,Marfan's Syndrome,Marfans Syndrome
D010013 Osteogenesis Imperfecta COLLAGEN DISEASES characterized by brittle, osteoporotic, and easily fractured bones. It may also present with blue sclerae, loose joints, and imperfect dentin formation. Most types are autosomal dominant and are associated with mutations in COLLAGEN TYPE I. Fragilitas Ossium,Lobstein Disease,Brittle Bone Disease,Lobstein's Disease,Osteogenesis Imperfecta Tarda,Osteogenesis Imperfecta with Blue Sclerae,Osteogenesis Imperfecta, Type 1,Osteogenesis Imperfecta, Type I,Disease, Lobstein,Disease, Lobstein's,Lobsteins Disease,Ossiums, Fragilitas,Osteogenesis Imperfecta Tardas
D003238 Connective Tissue Tissue that supports and binds other tissues. It consists of CONNECTIVE TISSUE CELLS embedded in a large amount of EXTRACELLULAR MATRIX. Connective Tissues,Tissue, Connective,Tissues, Connective
D003240 Connective Tissue Diseases A heterogeneous group of disorders, some hereditary, others acquired, characterized by abnormal structure or function of one or more of the elements of connective tissue, i.e., collagen, elastin, or the mucopolysaccharides. Connective Tissue Disease,Disease, Connective Tissue,Diseases, Connective Tissue
D004314 Down Syndrome A chromosome disorder associated either with an extra CHROMOSOME 21 or an effective TRISOMY for chromosome 21. Clinical manifestations include HYPOTONIA, short stature, BRACHYCEPHALY, upslanting palpebral fissures, epicanthus, Brushfield spots on the iris, protruding tongue, small ears, short, broad hands, fifth finger clinodactyly, single transverse palmar crease, and moderate to severe INTELLECTUAL DISABILITY. Cardiac and gastrointestinal malformations, a marked increase in the incidence of LEUKEMIA, and the early onset of ALZHEIMER DISEASE are also associated with this condition. Pathologic features include the development of NEUROFIBRILLARY TANGLES in neurons and the deposition of AMYLOID BETA-PROTEIN, similar to the pathology of ALZHEIMER DISEASE. (Menkes, Textbook of Child Neurology, 5th ed, p213) Mongolism,Trisomy 21,47,XX,+21,47,XY,+21,Down Syndrome, Partial Trisomy 21,Down's Syndrome,Partial Trisomy 21 Down Syndrome,Trisomy 21, Meiotic Nondisjunction,Trisomy 21, Mitotic Nondisjunction,Trisomy G,Downs Syndrome,Syndrome, Down,Syndrome, Down's
D004535 Ehlers-Danlos Syndrome A heterogeneous group of autosomally inherited COLLAGEN DISEASES caused by defects in the synthesis or structure of FIBRILLAR COLLAGEN. There are numerous subtypes: classical, hypermobility, vascular, and others. Common clinical features include hyperextensible skin and joints, skin fragility and reduced wound healing capability. Cutis Elastica,Ehlers Danlos Disease,Ehlers-Danlos Disease,Danlos Disease, Ehlers,Disease, Ehlers Danlos,Disease, Ehlers-Danlos,Ehlers Danlos Syndrome,Syndrome, Ehlers-Danlos
D005530 Foot Deformities Alterations or deviations from normal shape or size which result in a disfigurement of the foot. Metatarsal Deformity,Deformities, Foot,Deformities, Metatarsal,Deformity, Foot,Deformity, Metatarsal,Foot Deformity,Metatarsal Deformities
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man

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