Ehlers-Danlos syndrome, hypermobility type

General Information (adopted from Orphanet):

Synonyms, Signs: EDS III
EHLERS-DANLOS SYNDROME, HYPERMOBILITY TYPE
BENIGN HYPERMOBILITY SYNDROME
HT-EDS
EDS3
BJHS
Benign joint hypermobility syndrome
Ehlers-Danlos syndrome type 3
Ehlers-Danlos syndrome, hypermobile type
Number of Symptoms 74
OrphanetNr: 285
OMIM Id: 130020
ICD-10: Q79.6
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 12.5 of 100 000 [Orphanet]
Inheritance: Autosomal dominant
Autosomal recessive
[Orphanet]
Age of onset: All ages
[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:0000139) Uterine prolapse Occasional [Orphanet] 6 / 7739
2
(HPO:0100645) Cystocele Occasional [Orphanet] 2 / 7739
3
(HPO:0000858) Menstrual irregularities Occasional [Orphanet] 42 / 7739
4
(HPO:0000789) Infertility Occasional [Orphanet] 74 / 7739
5
(HPO:0000168) Abnormality of the gingiva Occasional [Orphanet] 51 / 7739
6
(HPO:0000230) Gingivitis Occasional [Orphanet] 31 / 7739
7
(HPO:0000286) Epicanthus Occasional [Orphanet] 371 / 7739
8
(HPO:0002645) Wormian bones Very frequent [Orphanet] 65 / 7739
9
(HPO:0000174) Abnormality of the palate Occasional [Orphanet] 298 / 7739
10
(HPO:0000164) Abnormality of the teeth Occasional [Orphanet] 291 / 7739
11
(HPO:0000163) Abnormality of the oral cavity Occasional [Orphanet] 37 / 7739
12
(HPO:0000691) Microdontia Occasional [Orphanet] 104 / 7739
13
(HPO:0100692) Increased corneal curvature Occasional [Orphanet] 13 / 7739
14
(HPO:0001097) Keratoconjunctivitis sicca Occasional [Orphanet] 25 / 7739
15
(HPO:0000508) Ptosis Occasional [Orphanet] 459 / 7739
16
(HPO:0002360) Sleep disturbance Very frequent [Orphanet] 113 / 7739
17
(HPO:0003134) Abnormality of peripheral nerve conduction Frequent [Orphanet] 38 / 7739
18
(HPO:0000763) Sensory neuropathy Occasional [Orphanet] 78 / 7739
19
(HPO:0002315) Headache Frequent [Orphanet] 175 / 7739
20
(HPO:0100851) Abnormal emotion/affect behavior Frequent [Orphanet] 85 / 7739
21
(HPO:0002141) Gait imbalance Very frequent [Orphanet] 55 / 7739
22
(HPO:0001760) Abnormality of the foot Very frequent [Orphanet] 96 / 7739
23
(HPO:0001385) Hip dysplasia Very frequent [Orphanet] 242 / 7739
24
(HPO:0002758) Osteoarthritis Frequent [Orphanet] 78 / 7739
25
(HPO:0003179) Protrusio acetabuli 37 / 7739
26
(HPO:0001763) Pes planus Frequent [Orphanet] 176 / 7739
27
(HPO:0002650) Scoliosis Occasional [Orphanet] 705 / 7739
28
(HPO:0005692) Joint hyperflexibility 20 / 7739
29
(HPO:0001373) Joint dislocation Very frequent [Orphanet] 59 / 7739
30
(HPO:0100769) Synovitis Frequent [Orphanet] 86 / 7739
31
(HPO:0002999) Patellar dislocation 46 / 7739
32
(HPO:0003019) Abnormality of the wrist Occasional [Orphanet] 52 / 7739
33
(HPO:0002827) Hip dislocation 94 / 7739
34
(HPO:0100550) Tendon rupture Occasional [Orphanet] 17 / 7739
35
(HPO:0001387) Joint stiffness Occasional [Orphanet] 322 / 7739
36
(HPO:0003834) Shoulder dislocation 28 / 7739
37
(HPO:0001388) Joint laxity 117 / 7739
38
(HPO:0003042) Elbow dislocation Very frequent [Orphanet] 89 / 7739
39
(HPO:0005021) Bilateral elbow dislocations 24 / 7739
40
(HPO:0002797) Osteolysis Occasional [Orphanet] 68 / 7739
41
(HPO:0001379) Degenerative joint disease 8 / 7739
42
(HPO:0005059) Arthralgia/arthritis Frequent [Orphanet] 141 / 7739
43
(HPO:0003994) Dislocated wrist 24 / 7739
44
(HPO:0001367) Abnormal joint morphology Very frequent [Orphanet] 53 / 7739
45
(HPO:0001382) Joint hypermobility Very frequent [Orphanet] 231 / 7739
46
(HPO:0012095) Multiple joint dislocation 24 / 7739
47
(HPO:0004378) Abnormality of the anus Occasional [Orphanet] 34 / 7739
48
(HPO:0002577) Abnormality of the stomach Occasional [Orphanet] 84 / 7739
49
(HPO:0001537) Umbilical hernia Occasional [Orphanet] 206 / 7739
50
(HPO:0010318) Aplasia/Hypoplasia of the abdominal wall musculature Occasional [Orphanet] 55 / 7739
51
(HPO:0002019) Constipation Frequent [Orphanet] 194 / 7739
52
(HPO:0002024) Malabsorption Frequent [Orphanet] 142 / 7739
53
(HPO:0002017) Nausea and vomiting Frequent [Orphanet] 134 / 7739
54
(HPO:0004299) Hernia of the abdominal wall Occasional [Orphanet] 176 / 7739
55
(HPO:0001065) Striae distensae 26 / 7739
56
(HPO:0001063) Acrocyanosis Very frequent [Orphanet] 56 / 7739
57
(HPO:0000987) Atypical scarring of skin Occasional [Orphanet] 58 / 7739
58
(HPO:0010720) Abnormal hair pattern Occasional [Orphanet] 14 / 7739
59
(HPO:0001031) Subcutaneous lipoma Occasional [Orphanet] 112 / 7739
60
(HPO:0000974) Hyperextensible skin Very frequent [Orphanet] 59 / 7739
61
(HPO:0000951) Abnormality of the skin Frequent [Orphanet] 147 / 7739
62
(HPO:0000977) Soft skin 23 / 7739
63
(HPO:0000963) Thin skin Frequent [Orphanet] 96 / 7739
64
(HPO:0011675) Arrhythmia Frequent [Orphanet] 226 / 7739
65
(HPO:0002616) Aortic root dilatation Occasional [Orphanet] 27 / 7739
66
(HPO:0005293) Venous insufficiency Occasional [Orphanet] 27 / 7739
67
(HPO:0005294) Arterial dissection Occasional [Orphanet] 8 / 7739
68
(HPO:0001634) Mitral valve prolapse 69 / 7739
69
(HPO:0002104) Apnea Occasional [Orphanet] 106 / 7739
70
(HPO:0003326) Myalgia Very frequent [Orphanet] 143 / 7739
71
(HPO:0001324) Muscle weakness Very frequent [Orphanet] 859 / 7739
72
(OMIM) No scarring 2 / 7739
73
(OMIM) Sacral striae 1 / 7739
74
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) The Ehlers-Danlos syndrome shows phenotypic and genetic heterogeneity; see 130000. According to the original Beighton classification (Beighton, 1970), EDS III is the benign hypermobility syndrome. Marked joint hyperextensibility without skeletal deformity dominates the clinical picture. Skin manifestations are ...
Clinical Description OMIM Wenstrup et al. (2002) performed a prospective cohort study on 71 consecutive EDS patients. Twenty of 71, or 28%, had aortic root dilatation defined as greater than 2 serum deviations above population-based norms. Fourteen of 42 individuals with ...
Molecular genetics OMIM Narcisi et al. (1994) identified a gly637-to-ser mutation in the COL3A1 gene (G637S; 120180.0020) in a family in which multiple members had a connective tissue disorder answering to the description of either EDS III or familial joint instability ...
Diagnosis GeneReviews Clinical diagnostic criteria and a revised nomenclature for all forms of Ehlers-Danlos syndrome (EDS) were proposed by Beighton et al [1998] (click Image guidelines.jpg for full text). EDS, hypermobility type is characterized chiefly by joint laxity with soft skin and easy bruising, but other organ systems (especially gastrointestinal and cardiovascular) are frequently involved. EDS, classic type has more significant skin and soft tissue manifestations, but in mild cases may be difficult to clearly distinguish from EDS, hypermobility type. ...
Clinical Description GeneReviews Ehlers-Danlos syndrome (EDS), hypermobility type is generally considered the least severe type of EDS, although significant complications, primarily musculoskeletal, do occur. Clinical variability is substantial. Most individuals who seek medical care are female. Pain and major joint complications are much less common among affected males. This bias may result from differences between men and women with respect to pain perception and inherent joint stability, as well as the effects of sex hormones [Castori et al 2010b]. ...
Genotype-Phenotype Correlations GeneReviews The genetic etiology for most cases is unknown. In the few described individuals with EDS, hypermobility type resulting from haploinsufficiency of tenascin-X, easy bruisability and mildly hyperextensible skin were not seen [Zweers et al 2003]. ...
Differential Diagnosis GeneReviews All types of Ehlers-Danlos syndrome (EDS) share some degree of joint laxity and skin/soft tissue manifestations. ...
Management GeneReviews To establish the extent of disease in an individual diagnosed with Ehlers-Danlos syndrome (EDS), hypermobility type, the following evaluations are recommended: ...
Molecular genetics GeneReviews Information in the Molecular Genetics and OMIM tables may differ from that elsewhere in the GeneReview: tables may contain more recent information. —ED....