My Orthopaedic Surgeon

- scoliosis occurs in the majority of patients w/ Marfan's syndrome, (over 60%) but curvatures significant enough to require treatment occur in only 20% of pts; - risk of progression: - scoliosis often occurs before age of 10 & may progress rapidly; - progression is more likely w/ curves greater than 20 deg in growing patients, and is more likely w/ curves more than 30-40 deg in adults; - associated conditions: - high-grade spondylolisthesis is additional spinal deformity that reportedly occurs with this syndrome. - dural ectasia and anterior myelomeningocele may be present & are thought to be caused by CSF pulsations against weakened dura; Wheeless' Textbook of Orthopaedics

Orthopaedic aspects of Marfan's Syndrome Search string "Marfan Syndrome"[MAJR] Orthopaedic URL (this is too long for the database) http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=PureSearch&db=pubmed&details_term=%22Marfan%20Syndrome%22%5BMAJR%5D%20AND%20%28orthopedic%5BText%20Word%5D%20OR%20%28%22orthopedics%22%5BTIAB%5D%20NOT%20Medline%5BSB%5D%29%20OR%20%22orthopedics%22%5BMeSH%20Terms%5D%20OR%20orthopaedic%5BText%20Word%5D%29

Marfan syndrome may cause or feature Miscellaneous syndromes Hypokalaemic distal renal tubular acidosis Symptoms and Signs Arachnodactyly Enophthalmos High arched palate Lens dislocation Marfanoid habitus Micrognathia Scoliosis Tall stature Congenital conditions Retrognathia Mendelian inherited conditions Megalocornea Cardiac and vascular conditions Aneurysms Aortic valve incompetence Mitral valve incompetence Respiratory conditions Pneumothorax may be a risk factor for Congenital conditions Sinus of Valsalva aneurysm Cardiac and vascular conditions Dissecting aortic aneurysm may be associated with Autosomal dominant conditions Erdheim's cystic medial necrosis belong(s) to the category of Autosomal dominant conditions Marfan syndrome: Definition(s) via UMLS.....Code translations and terms via UMLS. Marfan syndrome: specific web sites. Diseases Database

Marfan syndrome (MFS) is a spectrum disorder caused by a heritable genetic defect of connective tissue that has an autosomal dominant mode of transmission. The defect itself has been isolated to FBN1 gene on chromosome 15, which codes for the connective tissue protein, fibrillin. Abnormalities in this protein cause a myriad of distinct clinical problems, of which the musculoskeletal, cardiac, and ocular system problems predominate. The skeleton typically displays multiple deformities including arachnodactyly (ie, abnormally long and thin digits), dolichostenomelia (ie, long limbs relative to trunk length), pectus deformities (ie, excavatum and carinatum), and thoracolumbar scoliosis. In the cardiovascular system, aortic dilation, aortic regurgitation, and aneurysms are the most worrisome clinical findings. Mitral valve prolapse requiring valve replacement can occur as well. Ocular findings include myopia, cataracts, retinal detachment, and superior dislocation of the lens. Author: Khalid Channell, MD, Staff Physician, Department of General Surgery, Division of Orthopedic Surgery, King Drew Medical Center Coauthor(s): Eleby R Washington III, MD, FACS, Associate Professor, Department of Surgery, Division of Orthopedics, Charles R Drew University of Medicine and Science

Author: Harold Chen, MD, MS, FAAP, FACMG, Professor, Department of Pediatrics, Chief, Genetic Laboratory Services, Louisiana State University Medical Center
Synonyms and related keywords: Marfan's syndrome, Marfan disease, Marfan's disease, inherited connective tissue disorder, fibrillin-1 gene, FBN1 gene, ectopia lentis, mitral valve prolapse, mitral regurgitation, aortic root dilatation, aortic dissection, chronic aortic regurgitation, Ghent criteria, dural ectasia, ligamentous laxity, decrescendo diastolic murmur, ejection click,dysrhythmia, syncope, shock, pallor, pulselessness, paresthesia, low back pain, dyspnea, palpitations, pectus excavatum, pectus carinatum, spontaneous pneumothorax, lens dislocation, retinal detachment, myopia, amblyopia, dolichostenomelia, arachnodactyly, Walker sign, Steinberg sign, scoliosis, pes planus, protrusio acetabula, thoracic lordosis, joint hypermobility, highly arched palate, dental crowding, dolichocephaly, malar hypoplasia, enophthalmos, retrognathia, down-slanting palpebral fissures, flat cornea, hypoplastic iris, hypoplastic ciliary muscle, glaucoma, calcification of mitral annulus, dilatation of abdominal aorta, dilatation of descending thoracic aorta, holosystolic murmur, apical blebs, Marfan syndrome, striae atrophicae, recurrent hernia, incisional hernia, TGF beta signalopathies, TGEâR1 gene, TGEâR2 gene, Loeys-Dietz aortic aneurysm syndrome
Marfan syndrome is an inherited connective-tissue disorder transmitted as an autosomal dominant trait. It is noteworthy for its worldwide distribution, relatively high prevalence, clinical variability, and pleiotropic manifestations, some of which are life threatening. Cardinal features of the disorder include tall stature, ectopia lentis, mitral valve prolapse, aortic root dilatation, and aortic dissection. About three quarters of patients have an affected parent; new mutations account for the remainder. Marfan syndrome is fully penetrant with marked interfamilial and intrafamilial variability.

Discussion: - older names include dolichostenomelia (Greek for long, narrow limbs) and dystrophia mesodermalis congenital, typus Marfanis; - inherited as an autosomal dominant trait with variable expressivity. - characterized by long, thin limbs and by laxity of ligaments;

A heritable disorder of fibrous connective tissue, Marfan syndrome shows striking pleiotropism and clinical variability. The cardinal features occur in 3 systems--skeletal, ocular, and cardiovascular (McKusick, 1972; Pyeritz and McKusick, 1979; Pyeritz, 1993). Gray and Davies (1996) gave a general review. They published Kaplan-Meier survival curves for a cohort of British Marfan syndrome patients demonstrating greater survivorship in females than in males; a similar result had been reported by Murdoch et al. (1972) and by Silverman et al. (1995). Gray and Davies (1996) also proposed a grading scale for clinical comparison of the Marfan syndrome patients. The authors provided criteria for each grade and suggested uniform use of these scales may facilitate clinicomolecular correlations. OMIM Review

Marfan syndrome