Ehlers-Danlos syndrome type 11

General Information (adopted from Orphanet):

Synonyms, Signs: EHLERS-DANLOS SYNDROME, TYPE XI, FORMERLY
ARTICULAR HYPERMOBILITY SYNDROME
EDS XI
EDS XI, FORMERLY
EDS11, FORMERLY
familial joint instability syndrome
Familial joint laxity
Joint instability syndrome
Number of Symptoms 19
OrphanetNr: 2295
OMIM Id: 147900
ICD-10: Q79.6
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Infancy
Childhood
Adolescent
[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:0002823) Abnormality of the femur Occasional [Orphanet] 61 / 7739
2
 (HPO:0002999) Patellar dislocation Very frequent [Orphanet] 46 / 7739
3
 (HPO:0003179) Protrusio acetabuli 37 / 7739
4
 (HPO:0001374) Congenital hip dislocation 51 / 7739
5
 (HPO:0009811) Abnormality of the elbow Occasional [Orphanet] 30 / 7739
6
 (HPO:0001388) Joint laxity 117 / 7739
7
 (HPO:0001373) Joint dislocation 59 / 7739
8
 (HPO:0001385) Hip dysplasia Very frequent [Orphanet] 242 / 7739
9
 (HPO:0002827) Hip dislocation 94 / 7739
10
 (HPO:0003994) Dislocated wrist 24 / 7739
11
 (HPO:0001382) Joint hypermobility Very frequent [Orphanet] 231 / 7739
12
 (HPO:0002815) Abnormality of the knee Frequent [Orphanet] 19 / 7739
13
 (HPO:0005021) Bilateral elbow dislocations 24 / 7739
14
 (HPO:0003042) Elbow dislocation 89 / 7739
15
 (HPO:0012095) Multiple joint dislocation 24 / 7739
16
 (HPO:0003834) Shoulder dislocation 28 / 7739
17
 (HPO:0000774) Narrow chest Occasional [Orphanet] 167 / 7739
18
 (HPO:0004299) Hernia of the abdominal wall Occasional [Orphanet] 176 / 7739
19
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Carter and Sweetnam (1960) noted dominant inheritance in several families that suffered from recurrent dislocation of joints, particularly the shoulder, caused by joint laxity. Other dominant pedigrees were referred to by McKusick (1972). Horton et al. (1980) reported ...