Ehlers-Danlos syndrome, arthrochalasic type

General Information (adopted from Orphanet):

Synonyms, Signs: EDS7B, INCLUDED
EDS VII, MUTANT PROCOLLAGEN TYPE EDS VIIB, INCLUDED
ARTHROCHALASIS MULTIPLEX CONGENITA
EDS VII
EDS VIIA
EDS7A
ehlers-danlos syndrome, arthrochalasia type
Ehlers-Danlos syndrome type 7
Number of Symptoms 42
OrphanetNr: 1899
OMIM Id: 130060
ICD-10: Q79.6
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
[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:0005280) Depressed nasal bridge Frequent [Orphanet] 381 / 7739
2
 (HPO:0000272) Malar flattening 277 / 7739
3
 (HPO:0000316) Hypertelorism Frequent [Orphanet] 644 / 7739
4
 (HPO:0011800) Midface retrusion 221 / 7739
5
 (HPO:0000286) Epicanthus Frequent [Orphanet] 371 / 7739
6
 (HPO:0000277) Abnormality of the mandible Frequent [Orphanet] 394 / 7739
7
 (HPO:0002167) Neurological speech impairment Very frequent [Orphanet] 308 / 7739
8
 (HPO:0002194) Delayed gross motor development 37 / 7739
9
 (HPO:0000938) Osteopenia 138 / 7739
10
 (HPO:0002808) Kyphosis 289 / 7739
11
 (HPO:0008780) Congenital bilateral hip dislocation 4 / 7739
12
 (HPO:0001388) Joint laxity 117 / 7739
13
 (HPO:0001373) Joint dislocation Very frequent [Orphanet] 59 / 7739
14
 (HPO:0002659) Increased susceptibility to fractures 110 / 7739
15
 (HPO:0002650) Scoliosis Frequent [Orphanet] 705 / 7739
16
 (HPO:0001385) Hip dysplasia Very frequent [Orphanet] 242 / 7739
17
 (HPO:0003088) Premature osteoarthritis 10 / 7739
18
 (HPO:0001387) Joint stiffness Very frequent [Orphanet] 322 / 7739
19
 (HPO:0001382) Joint hypermobility Very frequent [Orphanet] 231 / 7739
20
 (HPO:0001623) Breech presentation 16 / 7739
21
 (HPO:0004299) Hernia of the abdominal wall Occasional [Orphanet] 176 / 7739
22
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
23
 (HPO:0003502) Mild short stature 19 / 7739
24
 (HPO:0000978) Bruising susceptibility 123 / 7739
25
 (HPO:0000987) Atypical scarring of skin Very frequent [Orphanet] 58 / 7739
26
 (HPO:0001075) Atrophic scars 15 / 7739
27
 (HPO:0000963) Thin skin Very frequent [Orphanet] 96 / 7739
28
 (HPO:0001058) Poor wound healing 9 / 7739
29
 (HPO:0000951) Abnormality of the skin Very frequent [Orphanet] 147 / 7739
30
 (HPO:0000974) Hyperextensible skin Very frequent [Orphanet] 59 / 7739
31
 (HPO:0000977) Soft skin 23 / 7739
32
 (HPO:0010547) Muscle flaccidity 466 / 7739
33
 (HPO:0001324) Muscle weakness Very frequent [Orphanet] 859 / 7739
34
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
35
 (HPO:0001252) Muscular hypotonia Very frequent [Orphanet] 990 / 7739
36
 (OMIM) Recurrent joint subluxation 3 / 7739
37
 (MedDRA:10017076) Fracture 18 / 7739
38
 (MedDRA:10017322) Fractures 18 / 7739
39
 (OMIM) Thin, velvety skin 3 / 7739
40
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
41
 (OMIM) Joint laxity, severe 3 / 7739
42
 (OMIM) Mild to moderate short stature 7 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) EDS type VII is distinguished from the other types of EDS by the frequency of congenital hip dislocation and extreme joint laxity with recurrent joint subluxations and minimal skin involvement (Byers et al., 1997; Giunta et al., 2008). ...
Clinical Description OMIM Lichtenstein et al. (1973) reported a patient with arthrochalasis multiplex congenita, including short stature, small mandible, considerable hyperextensibility, and increased skin bruising. Although the patient was originally thought to have deficiency of procollagen proteinase, Steinmann et al. (1980) ...
Molecular genetics OMIM In a girl with EDS VIIA reported by Cole et al., 1986), Weil et al. (1989) identified a de novo heterozygous mutation in the COL1A1 gene that resulted in the skipping of exon 6 (120150.0026). The deleted peptides ...