EHLERS-DANLOS SYNDROME, AUTOSOMAL DOMINANT, TYPE UNSPECIFIED

General Information (adopted from Orphanet):

Synonyms, Signs: EHLERS-DANLOS SYNDROME, FRIEDMAN-HARROD TYPE
EDS, UNSPECIFIED TYPE
Number of Symptoms 19
OrphanetNr:
OMIM Id: 130090
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0000426) Prominent nasal bridge 121 / 7739
2
 (HPO:0000347) Micrognathia 426 / 7739
3
 (HPO:0000324) Facial asymmetry 57 / 7739
4
 (HPO:0001388) Joint laxity 117 / 7739
5
 (HPO:0003423) Thoracolumbar kyphoscoliosis 4 / 7739
6
 (HPO:0005656) Positional foot deformity 2 / 7739
7
 (HPO:0001438) Abnormality of the abdomen 28 / 7739
8
 (HPO:0000974) Hyperextensible skin 59 / 7739
9
 (HPO:0001073) Cigarette-paper scars 7 / 7739
10
 (HPO:0000976) Eczematoid dermatitis 22 / 7739
11
 (HPO:0200146) Cystic medial necrosis of the aorta 1 / 7739
12
 (HPO:0002622) Dissecting aortic aneurysm 3 / 7739
13
 (HPO:0001654) Abnormality of the heart valves 49 / 7739
14
 (HPO:0002099) Asthma 62 / 7739
15
 (HPO:0100790) Hernia 9 / 7739
16
 (OMIM) Gorlin sign (tip of tongue to tip of nose) 1 / 7739
17
 (OMIM) Thoracic deformity 1 / 7739
18
 (HPO:0001425) Heterogeneous 132 / 7739
19
 (OMIM) Myxomatous valvular degeneration 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: