Ehlers-Danlos syndrome, dermatosparaxis type

General Information (adopted from Orphanet):

Synonyms, Signs: EDS VIIC
EHLERS-DANLOS SYNDROME, DERMATOSPARAXIS TYPE
DERMATOSPARAXIS
EDS7C
Ehlers-Danlos syndrome type 7C
Number of Symptoms 65
OrphanetNr: 1901
OMIM Id: 225410
ICD-10: Q79.6
UMLs: C2700425
MeSH:
MedDRA:
Snomed: 55711009

Prevalence, inheritance and age of onset:

Prevalence: 7 cases [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[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:0000494) Downslanted palpebral fissures 328 / 7739
2
 (HPO:0000225) Gingival bleeding 28 / 7739
3
 (HPO:0000277) Abnormality of the mandible Frequent [Orphanet] 394 / 7739
4
 (HPO:0000286) Epicanthus Frequent [Orphanet] 371 / 7739
5
 (HPO:0000212) Gingival overgrowth 43 / 7739
6
 (HPO:0001476) Delayed closure of the anterior fontanelle 23 / 7739
7
 (HPO:0000260) Wide anterior fontanel 55 / 7739
8
 (HPO:0200094) Frontal open bite 1 / 7739
9
 (HPO:0012471) Thick vermilion border 115 / 7739
10
 (HPO:0100540) Palpebral edema 31 / 7739
11
 (HPO:0010749) Blepharochalasis 3 / 7739
12
 (HPO:0000347) Micrognathia 426 / 7739
13
 (HPO:0000668) Hypodontia 81 / 7739
14
 (HPO:0005280) Depressed nasal bridge Frequent [Orphanet] 381 / 7739
15
 (HPO:0011073) Abnormality of dental color 24 / 7739
16
 (HPO:0000232) Everted lower lip vermilion 90 / 7739
17
 (HPO:0000222) Gingival hyperkeratosis 2 / 7739
18
 (HPO:0000316) Hypertelorism Frequent [Orphanet] 644 / 7739
19
 (HPO:0006344) Abnormality of primary molar morphology 1 / 7739
20
 (HPO:0005332) Recurrent mandibular subluxations 1 / 7739
21
 (HPO:0000592) Blue sclerae 85 / 7739
22
 (HPO:0000545) Myopia 286 / 7739
23
 (HPO:0002167) Neurological speech impairment Very frequent [Orphanet] 308 / 7739
24
 (HPO:0001270) Motor delay 322 / 7739
25
 (HPO:0004349) Reduced bone mineral density Very frequent [Orphanet] 165 / 7739
26
 (HPO:0001373) Joint dislocation Very frequent [Orphanet] 59 / 7739
27
 (HPO:0002650) Scoliosis Frequent [Orphanet] 705 / 7739
28
 (HPO:0001387) Joint stiffness Very frequent [Orphanet] 322 / 7739
29
 (HPO:0000938) Osteopenia 138 / 7739
30
 (HPO:0001382) Joint hypermobility Very frequent [Orphanet] 231 / 7739
31
 (HPO:0002983) Micromelia 130 / 7739
32
 (HPO:0001385) Hip dysplasia Very frequent [Orphanet] 242 / 7739
33
 (HPO:0001388) Joint laxity 117 / 7739
34
 (HPO:0001831) Short toe 52 / 7739
35
 (HPO:0009803) Short phalanx of finger 79 / 7739
36
 (HPO:0001622) Premature birth 100 / 7739
37
 (HPO:0001788) Premature rupture of membranes 5 / 7739
38
 (HPO:0004299) Hernia of the abdominal wall Very frequent [Orphanet] 176 / 7739
39
 (HPO:0001537) Umbilical hernia Very frequent [Orphanet] 206 / 7739
40
 (HPO:0002577) Abnormality of the stomach Very frequent [Orphanet] 84 / 7739
41
 (HPO:0000023) Inguinal hernia 181 / 7739
42
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
43
 (HPO:0000963) Thin skin Very frequent [Orphanet] 96 / 7739
44
 (HPO:0100678) Premature skin wrinkling Very frequent [Orphanet] 25 / 7739
45
 (HPO:0000951) Abnormality of the skin Very frequent [Orphanet] 147 / 7739
46
 (HPO:0001007) Hirsutism 91 / 7739
47
 (HPO:0000987) Atypical scarring of skin Very frequent [Orphanet] 58 / 7739
48
 (HPO:0000978) Bruising susceptibility 123 / 7739
49
 (HPO:0001027) Soft, doughy skin 3 / 7739
50
 (HPO:0001030) Fragile skin 25 / 7739
51
 (HPO:0000974) Hyperextensible skin Very frequent [Orphanet] 59 / 7739
52
 (HPO:0001582) Redundant skin 51 / 7739
53
 (HPO:0003010) Prolonged bleeding time Very frequent [Orphanet] 88 / 7739
54
 (HPO:0004876) Spontaneous neonatal pneumothorax 2 / 7739
55
 (HPO:0001252) Muscular hypotonia Very frequent [Orphanet] 990 / 7739
56
 (OMIM) Joint laxity, marked 1 / 7739
57
 (OMIM) Prominent lips 7 / 7739
58
 (MedDRA:10070939) Wound healing normal 5 / 7739
59
 (OMIM) Short limbs 17 / 7739
60
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
61
 (OMIM) Collagen fibrils show hieroglyphic pattern 1 / 7739
62
 (OMIM) Deciduous molars show abnormal morphology 1 / 7739
63
 (OMIM) Deciduous dentition shows enamel attrition 1 / 7739
64
 (OMIM) Excessive buccal mucosa 1 / 7739
65
 (OMIM) Hirsutism, mild 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Dermatosparaxis (meaning 'tearing of skin') is an autosomal recessive disorder of connective tissue resulting from deficiency of procollagen peptidase, an enzyme that aids in the processing of type I procollagen. The disorder and the responsible biochemical defect was ...
Clinical Description OMIM Lichtenstein et al. (1973) reported 2 patients with severe joint hyperextensibility and mild stretchability and bruisability of the skin similar to that seen in dermatosparaxis in cattle. Other clinical features in the patients included short stature, epicanthal folds, ...
Molecular genetics OMIM Colige et al. (1999) identified mutations in the ADAMTS2 gene causing EDS type VIIC in the 6 known affected individuals and also in 1 strain of dermatosparactic calf. Five of the individuals with EDS type VIIC were homozygous ...