MARFANOID HYPERMOBILITY SYNDROME

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 17
OrphanetNr:
OMIM Id: 154750
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000218) High palate 356 / 7739
2
(HPO:0007700) Anterior segment dysgenesis 9 / 7739
3
(HPO:0001083) Ectopia lentis 45 / 7739
4
(HPO:0000767) Pectus excavatum 244 / 7739
5
(HPO:0001166) Arachnodactyly 62 / 7739
6
(HPO:0001382) Joint hypermobility 231 / 7739
7
(HPO:0000768) Pectus carinatum 136 / 7739
8
(HPO:0002650) Scoliosis 705 / 7739
9
(HPO:0001507) Growth abnormality 36 / 7739
10
(HPO:0000951) Abnormality of the skin 147 / 7739
11
(HPO:0002622) Dissecting aortic aneurysm 3 / 7739
12
(HPO:0001659) Aortic regurgitation 36 / 7739
13
(HPO:0001653) Mitral regurgitation 64 / 7739
14
(OMIM) Excessive skin stretchability 1 / 7739
15
(OMIM) Tall, thin body habitus 1 / 7739
16
(OMIM) Usually no ectopia lentis 1 / 7739
17
(OMIM) No retinal detachment 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Walker et al. (1969) described a 27-year-old man with a marfanoid habitus, pectus excavatum, and fifth finger camptodactyly. There was no evidence of aortic or eye involvement although a systolic click was heard over the heart and mesodermal ...