Marfan syndrome type 1

General Information (adopted from Orphanet):

Synonyms, Signs: MARFAN SYNDROME, TYPE I
MFS
MFS1
Number of Symptoms 78
OrphanetNr: 284963
OMIM Id: 154700
ICD-10: Q87.4
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: All ages
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Marfan syndrome
 -Rare circulatory system disease
 -Rare developmental defect during embryogenesis
 -Rare eye disease
 -Rare genetic disease
 -Rare surgical thoracic disease
 -Rare systemic or rheumatologic disease

Symptom Information: Sort by abundance 

1
(HPO:0000490) Deeply set eye 131 / 7739
2
(HPO:0007800) Increased axial globe length 3 / 7739
3
(HPO:0007676) Hypoplasia of the iris 22 / 7739
4
(HPO:0000518) Cataract 454 / 7739
5
(HPO:0001083) Ectopia lentis 45 / 7739
6
(HPO:0000541) Retinal detachment 87 / 7739
7
(HPO:0000565) Esotropia rare [HPO:skoehler] 58 / 7739
8
(HPO:0000577) Exotropia rare [HPO:skoehler] 43 / 7739
9
(HPO:0000545) Myopia 286 / 7739
10
(HPO:0000501) Glaucoma 180 / 7739
11
(HPO:0002097) Emphysema Rare [HPO:probinson] 40 / 7739
12
(HPO:0002107) Pneumothorax 7 / 7739
13
(HPO:0003758) Reduced subcutaneous adipose tissue 27 / 7739
14
(HPO:0000098) Tall stature 74 / 7739
15
(HPO:0001653) Mitral regurgitation 64 / 7739
16
(HPO:0005136) Premature calcification of mitral annulus 1 / 7739
17
(HPO:0001634) Mitral valve prolapse 69 / 7739
18
(HPO:0001704) Tricuspid valve prolapse 2 / 7739
19
(HPO:0001659) Aortic regurgitation 36 / 7739
20
(HPO:0001635) Congestive heart failure 232 / 7739
21
(HPO:0003199) Decreased muscle mass 27 / 7739
22
(HPO:0001166) Arachnodactyly 62 / 7739
23
(HPO:0001822) Hallux valgus 70 / 7739
24
(HPO:0001765) Hammertoe 63 / 7739
25
(HPO:0008132) Medial rotation of the medial malleolus 1 / 7739
26
(HPO:0001761) Pes cavus 225 / 7739
27
(HPO:0001763) Pes planus 176 / 7739
28
(HPO:0001838) Rocker bottom foot 85 / 7739
29
(HPO:0003179) Protrusio acetabuli 37 / 7739
30
(HPO:0002816) Genu recurvatum 30 / 7739
31
(HPO:0000347) Micrognathia 426 / 7739
32
(HPO:0000278) Retrognathia 100 / 7739
33
(HPO:0000268) Dolichocephaly 144 / 7739
34
(HPO:0000768) Pectus carinatum 136 / 7739
35
(HPO:0000767) Pectus excavatum 244 / 7739
36
(HPO:0002751) Kyphoscoliosis 131 / 7739
37
(HPO:0002650) Scoliosis 705 / 7739
38
(HPO:0003302) Spondylolisthesis 14 / 7739
39
(HPO:0001382) Joint hypermobility 231 / 7739
40
(HPO:0003088) Premature osteoarthritis 10 / 7739
41
(HPO:0004872) Incisional hernia 2 / 7739
42
(HPO:0000494) Downslanted palpebral fissures 328 / 7739
43
(HPO:0000276) Long face 109 / 7739
44
(HPO:0000272) Malar flattening 277 / 7739
45
(HPO:0000275) Narrow face 76 / 7739
46
(HPO:0000218) High palate 356 / 7739
47
(HPO:0000189) Narrow palate 45 / 7739
48
(HPO:0000678) Dental crowding 65 / 7739
49
(HPO:0001065) Striae distensae 26 / 7739
50
(HPO:0004927) Pulmonary artery dilatation 4 / 7739
51
(HPO:0002631) Ascending aortic aneurysm 9 / 7739
52
(HPO:0002616) Aortic root dilatation 27 / 7739
53
(HPO:0002647) Aortic dissection 14 / 7739
54
(HPO:0001371) Flexion contracture 220 / 7739
55
(HPO:0001548) Overgrowth 27 / 7739
56
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
57
(HPO:0100775) Dural ectasia 5 / 7739
58
(OMIM) Aneurysm of other aortic segments rare 1 / 7739
59
(OMIM) Arm span to height > 1.05 1 / 7739
60
(OMIM) Corneal flatness 1 / 7739
61
(OMIM) Decreased fibrillin-1 immunostaining in the dermis 1 / 7739
62
(OMIM) Disproportionate tall stature, upper to lower segment ratio less than 0.85 1 / 7739
63
(OMIM) Early glaucoma 1 / 7739
64
(OMIM) Emphysema in most severe presentation 1 / 7739
65
(OMIM) Long bone overgrowth (dolichostenomelia) 2 / 7739
66
(OMIM) Long narrow face 11 / 7739
67
(OMIM) Long, narrow feet 1 / 7739
68
(OMIM) Lumbosacral dural ectasia 1 / 7739
69
(OMIM) Mean adult height 175.4 +/- 8.2 cm for females 1 / 7739
70
(OMIM) Mean adult height 191.3 +/- 9 cm for males 1 / 7739
71
(OMIM) Mean length at birth 52.5 +/- 3.5 cm for females 1 / 7739
72
(OMIM) Mean length at birth 53 +/- 4.4 cm for males 1 / 7739
73
(OMIM) Pectus asymmetric sternum 1 / 7739
74
(OMIM) Puberty-associated peak in growth velocity is 2.4 years earlier for males and 2.2 years earlier for females 1 / 7739
75
(OMIM) Pulmonary blebs 2 / 7739
76
(OMIM) Recurrent or incisional hernia 1 / 7739
77
(OMIM) Thoracic lordosis 1 / 7739
78
(OMIM) Trabeculodysgenesis, primary (in some patients) 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) 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). It shares overlapping features with ...
Diagnosis OMIM The diagnosis of the Marfan syndrome is based on typical clinical features--skeletal, ocular, and cardiovascular--and a positive family history when available. The criteria established by Beighton et al. (1988) state that in the absence of an unequivocally affected ...
Clinical Description OMIM Increased height, disproportionately long limbs and digits, anterior chest deformity, mild to moderate joint laxity, vertebral column deformity (scoliosis and thoracic lordosis), and a narrow, highly arched palate with crowding of the teeth are frequent skeletal features. Sponseller ...
Genotype-Phenotype Correlations OMIM Attias et al. (2009) compared clinical features and outcomes of 71 patients with TGFBR2 (190182) mutations to those of 243 patients with FBN1 mutations. Aortic dilation was present in a similar proportion of patients in both the TGFBR2 ...
Molecular genetics OMIM For a discussion of the molecular genetics of the Marfan syndrome, see the entry on fibrillin-1 (FBN1; 134797).