Ehlers-Danlos syndrome, musculocontractural type

General Information (adopted from Orphanet):

Synonyms, Signs: ATCS
Ehlers-Danlos syndrome, Kosho type
CHST14-related Ehlers-Danlos syndrome
EDS, musculocontractural type
D4ST1-deficient Ehlers-Danlos syndrome
EDS, arthrogryposic type
Adducted thumb - clubfoot syndrome
EDS, Kosho type
Ehlers-Danlos syndrome, arthrogryposic type
CHST14-related EDS
D4ST1-deficient EDS
Adducted thumbs - arthrogryposis, Dundar type
Number of Symptoms 65
OrphanetNr: 2953
OMIM Id: 601776
615539
ICD-10: Q79.6
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 22 cases [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Congenital disorder of glycosylation with cardiac malformation as a major feature
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Congenital disorder of glycosylation with nephropathy as a major feature
 -Rare genetic disease
 -Rare renal disease
Congenital disorder of glycosylation with neurological involvement
 -Rare genetic disease
 -Rare neurologic disease
Congenital disorder of glycosylation with skin involvement
 -Rare genetic disease
 -Rare skin disease
Disorder of O-xylosylglycan synthesis
 -Rare genetic disease
Distal arthrogryposis
 -Rare developmental defect during embryogenesis
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:0000028) Cryptorchidism hallmark [HPO:skoehler] 347 / 7739
2
 (HPO:0100542) Abnormal localization of kidney Occasional [Orphanet] 64 / 7739
3
 (HPO:0000126) Hydronephrosis 119 / 7739
4
 (HPO:0000100) Nephrotic syndrome 83 / 7739
5
 (HPO:0000324) Facial asymmetry 57 / 7739
6
 (HPO:0000506) Telecanthus 156 / 7739
7
 (HPO:0000337) Broad forehead 116 / 7739
8
 (HPO:0000219) Thin upper lip vermilion 112 / 7739
9
 (HPO:0000270) Delayed cranial suture closure 33 / 7739
10
 (HPO:0004425) Flat forehead 6 / 7739
11
 (HPO:0000316) Hypertelorism 644 / 7739
12
 (HPO:0000308) Microretrognathia 78 / 7739
13
 (HPO:0000343) Long philtrum 262 / 7739
14
 (HPO:0000239) Large fontanelles Very frequent [Orphanet] 135 / 7739
15
 (HPO:0000494) Downslanted palpebral fissures 328 / 7739
16
 (HPO:0000160) Narrow mouth 188 / 7739
17
 (HPO:0000218) High palate 356 / 7739
18
 (HPO:0000175) Cleft palate 349 / 7739
19
 (HPO:0000248) Brachycephaly 222 / 7739
20
 (HPO:0002714) Downturned corners of mouth Very frequent [Orphanet] 98 / 7739
21
 (HPO:0000592) Blue sclerae 85 / 7739
22
 (HPO:0000545) Myopia 286 / 7739
23
 (HPO:0000541) Retinal detachment 87 / 7739
24
 (HPO:0000486) Strabismus 576 / 7739
25
 (HPO:0000482) Microcornea 102 / 7739
26
 (HPO:0000501) Glaucoma 180 / 7739
27
 (HPO:0000593) Abnormality of the anterior chamber 15 / 7739
28
 (HPO:0000357) Abnormal location of ears Very frequent [Orphanet] 328 / 7739
29
 (HPO:0000358) Posteriorly rotated ears 163 / 7739
30
 (HPO:0000411) Protruding ear 140 / 7739
31
 (HPO:0000365) Hearing impairment 539 / 7739
32
 (HPO:0001270) Motor delay 322 / 7739
33
 (HPO:0001249) Intellectual disability rare [HPO:skoehler] 1089 / 7739
34
 (HPO:0001263) Global developmental delay 853 / 7739
35
 (HPO:0002650) Scoliosis 705 / 7739
36
 (HPO:0005684) Distal arthrogryposis 31 / 7739
37
 (HPO:0001388) Joint laxity 117 / 7739
38
 (HPO:0001373) Joint dislocation 59 / 7739
39
 (HPO:0000767) Pectus excavatum 244 / 7739
40
 (HPO:0011302) Long palm Very frequent [Orphanet] 70 / 7739
41
 (HPO:0002761) Generalized joint laxity 8 / 7739
42
 (HPO:0001172) Abnormality of the thumb Very frequent [Orphanet] 103 / 7739
43
 (HPO:0001181) Adducted thumb 31 / 7739
44
 (HPO:0001166) Arachnodactyly 62 / 7739
45
 (HPO:0001762) Talipes equinovarus Very frequent [Orphanet] 309 / 7739
46
 (HPO:0002804) Arthrogryposis multiplex congenita 93 / 7739
47
 (HPO:0002036) Hiatus hernia 24 / 7739
48
 (HPO:0002019) Constipation 194 / 7739
49
 (HPO:0002566) Intestinal malrotation 89 / 7739
50
 (HPO:0001537) Umbilical hernia 206 / 7739
51
 (HPO:0002246) Abnormality of the duodenum 1 / 7739
52
 (HPO:0001540) Diastasis recti 23 / 7739
53
 (HPO:0000978) Bruising susceptibility 123 / 7739
54
 (HPO:0001581) Recurrent skin infections 9 / 7739
55
 (HPO:0001030) Fragile skin 25 / 7739
56
 (HPO:0000974) Hyperextensible skin 59 / 7739
57
 (HPO:0001629) Ventricular septal defect Occasional [Orphanet] 316 / 7739
58
 (HPO:0001631) Atria septal defect Occasional [Orphanet] 274 / 7739
59
 (HPO:0012303) Abnormality of the aortic arch Occasional [Orphanet] 57 / 7739
60
 (HPO:0002107) Pneumothorax 7 / 7739
61
 (HPO:0001252) Muscular hypotonia 990 / 7739
62
 (HPO:0100699) Scarring 9 / 7739
63
 (HPO:0002119) Ventriculomegaly 253 / 7739
64
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
65
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: