EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 2

General Information (adopted from Orphanet):

Synonyms, Signs: EDSP2
Number of Symptoms 37
OrphanetNr:
OMIM Id: 615349
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:0011341) Long upper lip 5 / 7739
2
(HPO:0012368) Flat face 106 / 7739
3
(HPO:0000175) Cleft palate rare [HPO:skoehler] 349 / 7739
4
(HPO:0000520) Proptosis 192 / 7739
5
(HPO:0011220) Prominent forehead 137 / 7739
6
(HPO:0000592) Blue sclerae 85 / 7739
7
(HPO:0001263) Global developmental delay rare [HPO:skoehler] 853 / 7739
8
(HPO:0002827) Hip dislocation 94 / 7739
9
(HPO:0000915) Pectus excavatum of inferior sternum 21 / 7739
10
(HPO:0009702) Carpal synostosis rare [HPO:skoehler] 26 / 7739
11
(HPO:0004233) Advanced ossification of carpal bones 14 / 7739
12
(HPO:0000767) Pectus excavatum rare [HPO:skoehler] 244 / 7739
13
(HPO:0002751) Kyphoscoliosis 131 / 7739
14
(HPO:0010049) Short metacarpal 99 / 7739
15
(HPO:0000926) Platyspondyly 150 / 7739
16
(HPO:0001762) Talipes equinovarus 309 / 7739
17
(HPO:0003015) Flared metaphysis 44 / 7739
18
(HPO:0004325) Decreased body weight 492 / 7739
19
(HPO:0000973) Cutis laxa 43 / 7739
20
(HPO:0000974) Hyperextensible skin 59 / 7739
21
(HPO:0008070) Sparse hair 94 / 7739
22
(HPO:0001324) Muscle weakness 859 / 7739
23
(HPO:0001252) Muscular hypotonia 990 / 7739
24
(HPO:0010547) Muscle flaccidity 466 / 7739
25
(HPO:0008947) Infantile muscular hypotonia 482 / 7739
26
(OMIM) Short ilia 3 / 7739
27
(OMIM) Finger laxity 1 / 7739
28
(OMIM) Restricted elbow movement 2 / 7739
29
(OMIM) Hand contracture (rare) 2 / 7739
30
(OMIM) Large joint laxity 1 / 7739
31
(OMIM) Spatulate finger 1 / 7739
32
(OMIM) Anterior beak of vertebral body 2 / 7739
33
(OMIM) Prominent lesser trochanter 2 / 7739
34
(OMIM) Elbow malalignment 2 / 7739
35
(OMIM) Doughy skin 2 / 7739
36
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
37
(OMIM) Epiphyseal dysplasia of femoral head 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) The features of the progeroid form of Ehlers-Danlos syndrome include an aged appearance, developmental delay, short stature, craniofacial disproportion, generalized osteopenia, defective wound healing, hypermobile joints, hypotonic muscles, and loose but elastic skin (Okajima et al., 1999). ...
Molecular genetics OMIM In 4 patients from 3 families with a progeroid form of EDS who did not have mutations in the B4GALT7 gene, Nakajima et al. (2013) performed Sanger sequencing of the B3GALT6 gene and found that all 4 patients ...