Ehlers-Danlos syndrome, classic type

General Information (adopted from Orphanet):

Synonyms, Signs: EDS, classic type
Number of Symptoms 85
OrphanetNr: 287
OMIM Id: 130000
130010
ICD-10: Q79.6
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 3.5 of 100 000 [Orphanet]
Inheritance: Autosomal dominant
Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
Childhood
[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
Rare disease with dentinogenesis imperfecta
 -Rare genetic disease
 -Rare odontologic disease
Syndromic diaphragmatic or abdominal wall malformation
 -Rare abdominal surgical disease
 -Rare developmental defect during embryogenesis
Syndromic diaphragmatic or thoracic malformation
 -Rare surgical thoracic disease

Symptom Information: Sort by abundance 

1
(HPO:0000124) Renal tubular dysfunction Occasional [Orphanet] 46 / 7739
2
(HPO:0000139) Uterine prolapse Occasional [Orphanet] 6 / 7739
3
(HPO:0009804) Reduced number of teeth Occasional [Orphanet] 137 / 7739
4
(HPO:0005105) Abnormal nasal morphology Very frequent [Orphanet] 114 / 7739
5
(HPO:0002705) High, narrow palate Very frequent [Orphanet] 308 / 7739
6
(HPO:0000689) Dental malocclusion Occasional [Orphanet] 114 / 7739
7
(HPO:0006316) Irregularly spaced teeth 2 / 7739
8
(HPO:0000275) Narrow face Frequent [Orphanet] 76 / 7739
9
(HPO:0000164) Abnormality of the teeth Occasional [Orphanet] 291 / 7739
10
(HPO:0002010) Narrow maxilla 3 / 7739
11
(HPO:0012371) Hyperplasia of midface Very frequent [Orphanet] 10 / 7739
12
(HPO:0000691) Microdontia Occasional [Orphanet] 104 / 7739
13
(HPO:0000445) Wide nose Occasional [Orphanet] 190 / 7739
14
(HPO:0000286) Epicanthus Occasional [Orphanet] 371 / 7739
15
(HPO:0000163) Abnormality of the oral cavity Very frequent [Orphanet] 37 / 7739
16
(HPO:0000325) Triangular face Very frequent [Orphanet] 91 / 7739
17
(HPO:0100692) Increased corneal curvature Occasional [Orphanet] 13 / 7739
18
(HPO:0001131) Corneal dystrophy Occasional [Orphanet] 56 / 7739
19
(HPO:0000545) Myopia Occasional [Orphanet] 286 / 7739
20
(HPO:0001083) Ectopia lentis Occasional [Orphanet] 45 / 7739
21
(HPO:0000501) Glaucoma Very frequent [Orphanet] 180 / 7739
22
(HPO:0000482) Microcornea Occasional [Orphanet] 102 / 7739
23
(HPO:0000541) Retinal detachment Occasional [Orphanet] 87 / 7739
24
(HPO:0000592) Blue sclerae Occasional [Orphanet] 85 / 7739
25
(HPO:0100720) Hypoplasia of the ear cartilage Frequent [Orphanet] 12 / 7739
26
(HPO:0000394) Lop ear 6 / 7739
27
(HPO:0004372) Reduced consciousness/confusion Occasional [Orphanet] 73 / 7739
28
(HPO:0002315) Headache Occasional [Orphanet] 175 / 7739
29
(HPO:0011302) Long palm Very frequent [Orphanet] 70 / 7739
30
(HPO:0001763) Pes planus Occasional [Orphanet] 176 / 7739
31
(HPO:0000768) Pectus carinatum Very frequent [Orphanet] 136 / 7739
32
(HPO:0002650) Scoliosis Frequent [Orphanet] 705 / 7739
33
(HPO:0100818) Long thorax Occasional [Orphanet] 10 / 7739
34
(HPO:0002808) Kyphosis Occasional [Orphanet] 289 / 7739
35
(HPO:0001373) Joint dislocation Frequent [Orphanet] 59 / 7739
36
(HPO:0003307) Hyperlordosis Very frequent [Orphanet] 122 / 7739
37
(HPO:0001382) Joint hypermobility Very frequent [Orphanet] 231 / 7739
38
(HPO:0003298) Spina bifida occulta Very frequent [Orphanet] 67 / 7739
39
(HPO:0002758) Osteoarthritis Occasional [Orphanet] 78 / 7739
40
(HPO:0005100) Premature birth following premature rupture of fetal membranes 2 / 7739
41
(HPO:0001622) Premature birth Frequent [Orphanet] 100 / 7739
42
(HPO:0000023) Inguinal hernia 181 / 7739
43
(HPO:0001537) Umbilical hernia Frequent [Orphanet] 206 / 7739
44
(HPO:0010318) Aplasia/Hypoplasia of the abdominal wall musculature Frequent [Orphanet] 55 / 7739
45
(HPO:0005222) Bowel diverticulosis 2 / 7739
46
(HPO:0004299) Hernia of the abdominal wall Occasional [Orphanet] 176 / 7739
47
(HPO:0002577) Abnormality of the stomach Frequent [Orphanet] 84 / 7739
48
(HPO:0004322) Short stature Occasional [Orphanet] 1232 / 7739
49
(HPO:0004326) Cachexia Occasional [Orphanet] 71 / 7739
50
(HPO:0009721) Shagreen patch Very frequent [Orphanet] 11 / 7739
51
(HPO:0000951) Abnormality of the skin Frequent [Orphanet] 147 / 7739
52
(HPO:0001030) Fragile skin 25 / 7739
53
(HPO:0001025) Urticaria Occasional [Orphanet] 73 / 7739
54
(HPO:0001073) Cigarette-paper scars 7 / 7739
55
(HPO:0001058) Poor wound healing 9 / 7739
56
(HPO:0001065) Striae distensae Very frequent [Orphanet] 26 / 7739
57
(HPO:0000974) Hyperextensible skin Very frequent [Orphanet] 59 / 7739
58
(HPO:0001063) Acrocyanosis Frequent [Orphanet] 56 / 7739
59
(HPO:0001933) Subcutaneous hemorrhage Very frequent [Orphanet] 50 / 7739
60
(HPO:0000977) Soft skin 23 / 7739
61
(HPO:0000964) Eczema Very frequent [Orphanet] 81 / 7739
62
(HPO:0010783) Erythema Frequent [Orphanet] 138 / 7739
63
(HPO:0000993) Molluscoid pseudotumors 8 / 7739
64
(HPO:0000978) Bruising susceptibility Frequent [Orphanet] 123 / 7739
65
(HPO:0000987) Atypical scarring of skin Very frequent [Orphanet] 58 / 7739
66
(HPO:0000963) Thin skin Frequent [Orphanet] 96 / 7739
67
(HPO:0002616) Aortic root dilatation Occasional [Orphanet] 27 / 7739
68
(HPO:0001633) Abnormality of the mitral valve Frequent [Orphanet] 69 / 7739
69
(HPO:0005294) Arterial dissection Very frequent [Orphanet] 8 / 7739
70
(HPO:0002615) Hypotension Very frequent [Orphanet] 52 / 7739
71
(HPO:0000822) Hypertension Very frequent [Orphanet] 224 / 7739
72
(HPO:0001634) Mitral valve prolapse 69 / 7739
73
(HPO:0001702) Abnormality of the tricuspid valve Frequent [Orphanet] 32 / 7739
74
(HPO:0005293) Venous insufficiency Frequent [Orphanet] 27 / 7739
75
(HPO:0001631) Atria septal defect Occasional [Orphanet] 274 / 7739
76
(HPO:0002099) Asthma Very frequent [Orphanet] 62 / 7739
77
(HPO:0002097) Emphysema Very frequent [Orphanet] 40 / 7739
78
(HPO:0100326) Immunologic hypersensitivity Occasional [Orphanet] 28 / 7739
79
(HPO:0003326) Myalgia Frequent [Orphanet] 143 / 7739
80
(HPO:0008947) Infantile muscular hypotonia 482 / 7739
81
(HPO:0001252) Muscular hypotonia Frequent [Orphanet] 990 / 7739
82
(HPO:0001324) Muscle weakness Frequent [Orphanet] 859 / 7739
83
(HPO:0030350) Erythematous papule Occasional [Orphanet] 123 / 7739
84
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
85
(HPO:0012758) Neurodevelopmental delay Occasional [Orphanet] 949 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Diagnosis GeneReviews The diagnosis of Ehlers-Danlos syndrome (EDS), classic type is established by family history and clinical examination. Diagnostic criteria were developed by a medical advisory group in a conference (sponsored by the Ehlers-Danlos Foundation [USA] and the Ehlers-Danlos Support Group [UK]) at Villefranche in 1997 [Beighton et al 1998; click Image guidelines.jpg for full text (pdf)]. ...
Clinical Description GeneReviews Ehlers-Danlos syndrome (EDS) is a connective tissue disorder characterized by skin hyperextensibility, abnormal wound healing, and joint hypermobility. Previously, two subtypes, EDS type I and EDS type II, differing only in phenotypic severity, were recognized; it is now apparent that they form a continuum of clinical findings....
Genotype-Phenotype Correlations GeneReviews The number of individuals described with mutations in COL5A1 or COL5A2 is relatively small. Although there can be some variability in severity of the phenotype, no genotype/phenotype correlations have emerged to date. In particular, no difference in severity is noted in individuals with a COL5A1 null mutation as compared to individuals with a structural mutation or those in whom no mutation can be detected. ...
Differential Diagnosis GeneReviews Other forms of Ehlers-Danlos syndrome (EDS) should be considered in individuals with easy bruising, joint hypermobility, and/or chronic joint dislocation. The disorders in which clinical findings overlap with the classic type of EDS include the following:...
Management GeneReviews For a detailed review of complications and management, see Wenstrup & Hoechstetter [2004]....
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....