IllnessMarfan syndrome, differential diagnosis

NGS +

[Sanger]

Marfan syndrome (MFS) is a systemic disease of the connective tissue with variously combined symptoms of the heart, circulation, muscles, skeleton, eyes and lungs. The age at which it first manifests is variable; the first symptoms can occur at any age. Cardiovascular involvement is characterised by (i) progressive dilatation of the aorta with increased risk of prognostic aortic dissection and aortic valve insufficiency; and (ii) mital insufficiency with arrhythmias, endocarditis and heart failure. Skeletal involvement (including regrowth, arachnodactyly, hyperextensible joints, scoliosis) is often the first sign of disease. Symptoms of eye involvement include axial myopia (with the risk of retinal detachment) and lens shift (ectopy or luxation). Other possible symptoms include skin (striae), a risk of pneumothorax and dura-ectasia. The "classic" MFS is caused by mutations in the FBN1 gene (approx. 95% mutation detection probability in patients who meet the clinical criteria for MFS). Important differential diagnoses are MASS syndrome, Shprintzen-Goldberg syndrome, mitral valve prolapse, Ehlers-Danlos syndrome and other diseases with aortic aneurysm, e.g. Loeys-Dietz syndromes.

Reference: https://www.ncbi.nlm.nih.gov/books/NBK1335/

• Allelic: Acromicric dysplasia (FBN1)
• Allelic: Anterior segment dysgenesis 2, multiple subtypes (FOXE3)
• Allelic: Arrhythmogenic right ventricular dysplasia 1 (TGFB3)
• Allelic: Cardiac valvular dysplasia, XL (FLNA)
• Allelic: Cataract 34, multiple types (FOXE3)
• Allelic: Colorectal cancer, hereditary nonpolyposis, type 6 (TGFBR2)
• Allelic: Congenital short bowel syndrome (FLNA)
• Allelic: Deafness, AD 13 (COL11A2)
• Allelic: Deafness, AD 37 (COL11A1)
• Allelic: Deafness, AR 53 (COL11A2)
• Allelic: Ectopia lentis, familial (FBN1)
• Allelic: Esophageal cancer, somatic (TGFBR2)
• Allelic: FG syndrome 2 (FLNA)
• Allelic: Frontometaphyseal dysplasia 1 (FLNA)
• Allelic: Geleophysic dysplasia 2 (FBN1)
• Allelic: Heterotopia, periventricular, 1 (FLNA)
• Allelic: Intervertebral disc disease, susceptibility to (COL9A3)
• Allelic: Intestinal pseudoobstruction, neuronal (FLNA)
• Allelic: Lumbar disc herniation, susceptibility to (COL11A1)
• Allelic: Macular degeneration, early-onset (FBN2)
• Allelic: Marfan lipodystrophy syndrome (FBN1)
• Allelic: Megacystis-microcolon-intestinal hypoperistalsis syndrome 1 (MYLK)
• Allelic: Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 (MYH11)
• Allelic: Melnick-Needles syndrome (FLNA)
• Allelic: Moyamoya disease 5 (ACTA2)
• Allelic: Multiple self-healing squamous epithelioma, susceptibility to (TGFBR1)
• Allelic: Multisystemic smooth muscle dysfunction syndrome (ACTA2)
• Allelic: Otopalatodigital syndrome, type I (FLNA)
• Allelic: Otopalatodigital syndrome, type II (FLNA)
• Allelic: Polymicrogyria with or without vascular-type EDS (COL3A1)
• Allelic: Stiff skin syndrome (FBN1)
• Allelic: Terminal osseous dysplasia (FLNA)
• Allelic: Thrombosis, hyperhomocysteinemic (CBS)
• Allelic: Visceral myopathy 2 (MYH11)
• Allelic: Weill-Marchesani syndrome 2, AD (FBN1)
• Aortic aneurysm, familial thoracic 10 (LOX)
• Aortic aneurysm, familial thoracic 11, susceptibility to (FOXE3)
• Aortic aneurysm, familial thoracic 4 (MYH11)
• Aortic aneurysm, familial thoracic 6 (ACTA2)
• Aortic aneurysm, familial thoracic 7 (MYLK)
• Aortic aneurysm, familial thoracic 8 (PRKG1)
• Aortic aneurysm, familial thoracic 9 (MFAP5)
• Arterial tortuosity syndrome (SLC2A10)
• Contractural arachnodactyly, congenital (FBN2)
• Ehlers-Danlos syndrome, classic type, 1 (COL5A1)
• Ehlers-Danlos syndrome, classic type, 2 (COL5A2)
• Ehlers-Danlos syndrome, kyphoscoliotic type, 1 (PLOD1)
• Ehlers-Danlos syndrome, vascular type (COL3A1)
• Epiphyseal dysplasia, multiple, 2 (COL9A2)
• Epiphyseal dysplasia, multiple, 3, with or without myopathy (COL9A3)
• Epiphyseal dysplasia, multiple, 6 (COL9A1)
• Fibrochondrogenesis 1 (COL11A1)
• Fibrochondrogenesis 2 (COL11A2)
• Homocystinuria, B6-responsive and nonresponsive types (CBS)
• Loeys-Dietz syndrome 1 (TGFBR1)
• Loeys-Dietz syndrome 2 (TGFBR2)
• Loeys-Dietz syndrome 3 (SMAD3)
• Loeys-Dietz syndrome 4 (TGFB2)
• Loeys-Dietz syndrome 5 (TGFB3)
• MASS syndrome (FBN1)
• Marfan syndrome (FBN1)
• Marshall syndrome (COL11A1)
• Meester-Loeys syndrome (BGN)
• Otospondylomegaepiphyseal dysplasia, AD (COL11A2)
• Otospondylomegaepiphyseal dysplasia, AR (COL11A2)
• Platyspondylic skeletal dysplasia, Torrance type (COL2A1)
• SED congenita (COL2A1)
• SMED Strudwick type (COL2A1)
• Shprintzen-Goldberg syndrome (SKI)
• Spondyloepimetaphyseal dysplasia, XL (BGN)
• Spondyloepiphyseal dysplasia, Stanescu type (COL2A1)
• Spondyloperipheral dysplasia (COL2A1)
• Stickler syndrome, type I (COL2A1)
• Stickler syndrome, type I, nonsyndromic ocular (COL2A1)
• Stickler syndrome, type II (COL11A1)
• Stickler syndrome, type IV (COL9A1)
• Stickler syndrome, type V (COL9A2)