EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 1

General Information (adopted from Orphanet):

Synonyms, Signs: EHLERS-DANLOS SYNDROME, TYPE VIB, FORMERLY
ARTHROGRYPOSIS, DISTAL, WITH PECULIAR FACIES AND HYDRONEPHROSIS
ADDUCTED THUMB, CLUBFOOT, AND PROGRESSIVE JOINT AND SKIN LAXITY SYNDROME
EDSMC1
ADDUCTED THUMB-CLUBFOOT SYNDROME
EDS6B, FORMERLY
DUNDAR SYNDROME
ATCS
EDSMC
Number of Symptoms 84
OrphanetNr:
OMIM Id: 601776
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0000126) Hydronephrosis 119 / 7739
2
 (HPO:0000028) Cryptorchidism 347 / 7739
3
 (HPO:0008689) Bilateral cryptorchidism 38 / 7739
4
 (HPO:0000494) Downslanted palpebral fissures 328 / 7739
5
 (HPO:0000316) Hypertelorism 644 / 7739
6
 (HPO:0000219) Thin upper lip vermilion 112 / 7739
7
 (HPO:0000248) Brachycephaly 222 / 7739
8
 (HPO:0000343) Long philtrum 262 / 7739
9
 (HPO:0000218) High palate 356 / 7739
10
 (HPO:0000175) Cleft palate 349 / 7739
11
 (HPO:0000482) Microcornea 102 / 7739
12
 (HPO:0000541) Retinal detachment 87 / 7739
13
 (HPO:0000545) Myopia 286 / 7739
14
 (HPO:0000486) Strabismus 576 / 7739
15
 (HPO:0000501) Glaucoma 180 / 7739
16
 (HPO:0000592) Blue sclerae 85 / 7739
17
 (HPO:0000411) Protruding ear 140 / 7739
18
 (HPO:0000365) Hearing impairment 539 / 7739
19
 (HPO:0001249) Intellectual disability 1089 / 7739
20
 (HPO:0002194) Delayed gross motor development 37 / 7739
21
 (HPO:0005021) Bilateral elbow dislocations 24 / 7739
22
 (HPO:0003179) Protrusio acetabuli 37 / 7739
23
 (HPO:0001166) Arachnodactyly 62 / 7739
24
 (HPO:0002827) Hip dislocation 94 / 7739
25
 (HPO:0003994) Dislocated wrist 24 / 7739
26
 (HPO:0000767) Pectus excavatum 244 / 7739
27
 (HPO:0012095) Multiple joint dislocation 24 / 7739
28
 (HPO:0005684) Distal arthrogryposis 31 / 7739
29
 (HPO:0002761) Generalized joint laxity 8 / 7739
30
 (HPO:0002804) Arthrogryposis multiplex congenita 93 / 7739
31
 (HPO:0003834) Shoulder dislocation 28 / 7739
32
 (HPO:0002650) Scoliosis 705 / 7739
33
 (HPO:0002999) Patellar dislocation 46 / 7739
34
 (HPO:0003042) Elbow dislocation 89 / 7739
35
 (HPO:0001373) Joint dislocation 59 / 7739
36
 (HPO:0002036) Hiatus hernia 24 / 7739
37
 (HPO:0001540) Diastasis recti 23 / 7739
38
 (HPO:0002019) Constipation 194 / 7739
39
 (HPO:0001537) Umbilical hernia 206 / 7739
40
 (HPO:0000974) Hyperextensible skin 59 / 7739
41
 (HPO:0000978) Bruising susceptibility 123 / 7739
42
 (HPO:0001631) Atria septal defect 274 / 7739
43
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
44
 (HPO:0001252) Muscular hypotonia 990 / 7739
45
 (HPO:0001324) Muscle weakness 859 / 7739
46
 (HPO:0010547) Muscle flaccidity 466 / 7739
47
 (OMIM) Eye anomalies, variable 1 / 7739
48
 (OMIM) Duodenal obstruction due to malrotation 1 / 7739
49
 (OMIM) Valve anomalies 1 / 7739
50
 (OMIM) Broad, flat forehead 2 / 7739
51
 (OMIM) Flat, thin pectus 1 / 7739
52
 (OMIM) Hemopneumothorax 1 / 7739
53
 (OMIM) Large fontanel with delayed closure 1 / 7739
54
 (OMIM) Severely wasted build 1 / 7739
55
 (OMIM) Subcutaneous infections, recurrent, with fistula formation 1 / 7739
56
 (OMIM) Talipes valgus and planus, progressive 1 / 7739
57
 (OMIM) Facial asymmetry from adolescence 1 / 7739
58
 (OMIM) Slender and/or cylindrical fingers 1 / 7739
59
 (OMIM) Mildly enlarged ventricles 1 / 7739
60
 (OMIM) Hypermobility of small joints 3 / 7739
61
 (OMIM) Low muscle mass 1 / 7739
62
 (OMIM) Smooth, round collagen fibrils 1 / 7739
63
 (OMIM) Anterior chamber abnormality 1 / 7739
64
 (OMIM) Delayed wound healing 5 / 7739
65
 (OMIM) Mild osteopenia in childhood (in some patients) 1 / 7739
66
 (OMIM) Small mouth in infancy 1 / 7739
67
 (OMIM) Microretrognathia in infancy 1 / 7739
68
 (OMIM) Hypermobility of shoulders 1 / 7739
69
 (OMIM) Enlarged bladder (in some patients) 1 / 7739
70
 (OMIM) Tendon abnormalities 1 / 7739
71
 (OMIM) Short with hypoplastic columella 1 / 7739
72
 (OMIM) Low-set and rotated ears 1 / 7739
73
 (OMIM) Adducted thumbs, bilateral, in infancy 1 / 7739
74
 (MedDRA:10061820) Diverticular perforation 1 / 7739
75
 (OMIM) Fragile skin with atrophic scarring 1 / 7739
76
 (OMIM) Thin collagen bundles 1 / 7739
77
 (OMIM) Collagen fibrils dispersed in reticular dermis 1 / 7739
78
 (OMIM) Talipes equinovarus in infancy 1 / 7739
79
 (OMIM) Cystitis, recurrent (in some patients) 1 / 7739
80
 (OMIM) Hematomas, recurrent large subcutaneous 1 / 7739
81
 (OMIM) Protruding jaw from adolescence 1 / 7739
82
 (OMIM) Fine collagen fibers predominant in reticular to papillary dermis 1 / 7739
83
 (OMIM) Palmar creases, fine to acrogeria-like 1 / 7739
84
 (OMIM) Hyperalgesia to pressure 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) The Ehlers-Danlos syndromes (EDS) are a group of heritable connective tissue disorders that share the common features of skin hyperextensibility, articular hypermobility, and tissue fragility (Beighton et al., 1998).

The major characteristics of the musculocontractural form ...
Clinical Description OMIM Steinmann et al. (1975) described 2 severely affected Pakistani sibs who had marked muscle weakness at birth as well as clubfeet and fragile skin, with delayed motor development but normal intellectual development. Examination at ages 18 and 20 ...
Molecular genetics OMIM In 3 families with adducted thumbs, clubfeet, and progressive joint and skin laxity mapping to chromosome 15q15, Dundar et al. (2009) sequenced 2 candidate genes and identified homozygous mutations in the CHST14 gene in each family, including a ...