MARFANOID HABITUS WITH SITUS INVERSUS

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 22
OrphanetNr:
OMIM Id: 609008
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Sporadic
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000276) Long face 109 / 7739
2
(HPO:0000303) Mandibular prognathia 179 / 7739
3
(HPO:0002058) Myopathic facies 26 / 7739
4
(HPO:0001132) Lens subluxation 13 / 7739
5
(HPO:0000545) Myopia 286 / 7739
6
(HPO:0002870) Obstructive sleep apnea 16 / 7739
7
(HPO:0001166) Arachnodactyly 62 / 7739
8
(HPO:0001187) Hyperextensibility of the finger joints 12 / 7739
9
(HPO:0000768) Pectus carinatum 136 / 7739
10
(HPO:0002816) Genu recurvatum 30 / 7739
11
(HPO:0002650) Scoliosis 705 / 7739
12
(HPO:0002808) Kyphosis 289 / 7739
13
(HPO:0001696) Situs inversus totalis 44 / 7739
14
(HPO:0001519) Disproportionate tall stature 39 / 7739
15
(HPO:0001659) Aortic regurgitation 36 / 7739
16
(HPO:0001651) Dextrocardia 38 / 7739
17
(HPO:0001634) Mitral valve prolapse 69 / 7739
18
(HPO:0005301) Persistent left superior vena cava 4 / 7739
19
(HPO:0001642) Pulmonic stenosis 89 / 7739
20
(HPO:0002616) Aortic root dilatation 27 / 7739
21
(OMIM) Azygous connection 1 / 7739
22
(HPO:0003745) Sporadic 131 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Gokce et al. (2001) reported a 22-year-old female with features of Marfan syndrome (154700) combined with abdominal situs inversus, dextrocardia, and polysplenia. Her cardiac disease included calcified right coronary aortic cusp, a discrete subaortic membrane with mild aortic ...