Ehlers-Danlos syndrome, fibronectinemic type

General Information (adopted from Orphanet):

Synonyms, Signs: EHLERS-DANLOS SYNDROME, TYPE X
EHLERS-DANLOS SYNDROME, DYSFIBRONECTINEMIC TYPE
FN ABNORMALITY
EDS10
EDS X
Ehlers-Danlos syndrome, fibronectin-deficient
Ehlers-Danlos syndrome with platelet dysfunction from fibronectin abnormality
Ehlers-Danlos syndrome type 10
Number of Symptoms 13
OrphanetNr: 75501
OMIM Id: 225310
ICD-10: Q79.6
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 1 family [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Adolescent
Adult
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Ehlers-Danlos syndrome
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare skin disease
 -Rare systemic or rheumatologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0005692) Joint hyperflexibility 20 / 7739
2
 (HPO:0001388) Joint laxity 117 / 7739
3
 (HPO:0001382) Joint hypermobility Very frequent [Orphanet] 231 / 7739
4
 (HPO:0000967) Petechiae 26 / 7739
5
 (HPO:0000974) Hyperextensible skin Very frequent [Orphanet] 59 / 7739
6
 (HPO:0000963) Thin skin 96 / 7739
7
 (HPO:0000987) Atypical scarring of skin 58 / 7739
8
 (HPO:0001065) Striae distensae 26 / 7739
9
 (HPO:0000978) Bruising susceptibility 123 / 7739
10
 (HPO:0001634) Mitral valve prolapse 69 / 7739
11
 (HPO:0001872) Abnormality of thrombocytes Very frequent [Orphanet] 20 / 7739
12
 (HPO:0100699) Scarring 9 / 7739
13
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Arneson et al. (1980) observed mild EDS in 4 of 6 sibs, together with a defect in platelet aggregation in response to collagen. The defect was partially corrected by normal plasma or cryoprecipitate. Plasma of affected sibs failed ...