Ehlers-Danlos syndrome, spondylocheirodysplastic type

General Information (adopted from Orphanet):

Synonyms, Signs: SCD-EDS
EDS, spondylocheirodysplastic type
Number of Symptoms 60
OrphanetNr: 157965
OMIM Id: 612350
ICD-10: Q79.6
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 6 cases [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset:

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
Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia
 -Rare bone disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000684) Delayed eruption of teeth 117 / 7739
2
 (HPO:0000494) Downslanted palpebral fissures Frequent [Orphanet] 328 / 7739
3
 (HPO:0000668) Hypodontia 81 / 7739
4
 (HPO:0000218) High palate 356 / 7739
5
 (HPO:0000520) Proptosis Very frequent [Orphanet] 192 / 7739
6
 (HPO:0000193) Bifid uvula 66 / 7739
7
 (HPO:0000689) Dental malocclusion 114 / 7739
8
 (HPO:0000592) Blue sclerae Very frequent [Orphanet] 85 / 7739
9
 (HPO:0002515) Waddling gait 56 / 7739
10
 (HPO:0005930) Abnormality of epiphysis morphology Frequent [Orphanet] 119 / 7739
11
 (HPO:0000944) Abnormality of the metaphyses Frequent [Orphanet] 141 / 7739
12
 (HPO:0002652) Skeletal dysplasia Very frequent [Orphanet] 113 / 7739
13
 (HPO:0000926) Platyspondyly Frequent [Orphanet] 150 / 7739
14
 (HPO:0010049) Short metacarpal 99 / 7739
15
 (HPO:0006429) Broad femoral neck 18 / 7739
16
 (HPO:0001388) Joint laxity 117 / 7739
17
 (HPO:0003301) Irregular vertebral endplates 25 / 7739
18
 (HPO:0003071) Flattened epiphysis 14 / 7739
19
 (HPO:0001382) Joint hypermobility 231 / 7739
20
 (HPO:0003370) Flat capital femoral epiphysis 15 / 7739
21
 (HPO:0004349) Reduced bone mineral density Frequent [Orphanet] 165 / 7739
22
 (HPO:0003393) Thenar muscle atrophy 10 / 7739
23
 (HPO:0002823) Abnormality of the femur Frequent [Orphanet] 61 / 7739
24
 (HPO:0001182) Tapered finger Frequent [Orphanet] 93 / 7739
25
 (HPO:0003016) Metaphyseal widening 41 / 7739
26
 (HPO:0100490) Camptodactyly of finger 212 / 7739
27
 (HPO:0005692) Joint hyperflexibility 20 / 7739
28
 (HPO:0001763) Pes planus 176 / 7739
29
 (HPO:0009803) Short phalanx of finger 79 / 7739
30
 (HPO:0010489) Absent palmar crease Frequent [Orphanet] 5 / 7739
31
 (HPO:0000938) Osteopenia 138 / 7739
32
 (HPO:0100864) Short femoral neck 36 / 7739
33
 (HPO:0008848) Moderately short stature 6 / 7739
34
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
35
 (HPO:0004325) Decreased body weight Very frequent [Orphanet] 492 / 7739
36
 (HPO:0008897) Postnatal growth retardation 113 / 7739
37
 (HPO:0000978) Bruising susceptibility Very frequent [Orphanet] 123 / 7739
38
 (HPO:0000963) Thin skin Very frequent [Orphanet] 96 / 7739
39
 (HPO:0001073) Cigarette-paper scars 7 / 7739
40
 (HPO:0000974) Hyperextensible skin Very frequent [Orphanet] 59 / 7739
41
 (HPO:0003202) Skeletal muscle atrophy Frequent [Orphanet] 281 / 7739
42
 (HPO:0003394) Muscle cramps Occasional [Orphanet] 106 / 7739
43
 (OMIM) Inability to adduct thumbs 1 / 7739
44
 (OMIM) Velvety, smooth skin 1 / 7739
45
 (OMIM) Short wide femoral neck 3 / 7739
46
 (OMIM) Lysyl pyridinoline/hydroxylysyl pyridinoline (LP/HP) ratio approximately 1 1 / 7739
47
 (OMIM) Slender, tapered fingers 1 / 7739
48
 (OMIM) Prominent veins 3 / 7739
49
 (OMIM) Delayed wound healing 5 / 7739
50
 (OMIM) Mildly flattened proximal femoral epiphyses 1 / 7739
51
 (OMIM) Small joint laxity 2 / 7739
52
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
53
 (OMIM) Protuberant eyes 3 / 7739
54
 (OMIM) Normal prolyl 4-hydroxylase activity 1 / 7739
55
 (OMIM) Small ilia 5 / 7739
56
 (OMIM) Normal lysyl hydroxylase activity 1 / 7739
57
 (OMIM) Birthweight at or below 3rd centile 1 / 7739
58
 (OMIM) Corneal diameter, normal 1 / 7739
59
 (OMIM) Hypothenar muscle atrophy 2 / 7739
60
 (OMIM) Finely wrinkled palms 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Giunta et al. (2008) described a 'spondylocheiro dysplastic form of Ehlers-Danlos syndrome' in 6 patients from 2 consanguineous families. Clinical features included postnatal growth retardation, moderate short stature, protuberant eyes with bluish sclerae, hands with finely wrinkled palms, ...
Molecular genetics OMIM In all 6 affected members of 2 families with SCD-EDS, Giunta et al. (2008) identified homozygosity for a 9-bp in-frame deletion in exon 4 of the membrane-bound zinc transporter SLC39A13 (608735.0001).

Fukada et al. (2008) identified ...