Spondyloepiphyseal dysplasia, Cantu type

General Information (adopted from Orphanet):

Synonyms, Signs: TATOO DYSPLASIA
SED-BDS
Spondyloepiphyseal dysplasia - brachydactyly - speech disorder
Tattoo dysplasia
fantasy island syndrome
Number of Symptoms 67
OrphanetNr: 163654
OMIM Id: 611717
ICD-10: Q77.7
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 4 cases [Orphanet]
Inheritance: Unknown
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

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

Symptom Information: Sort by abundance 

1
 (HPO:0000431) Wide nasal bridge 290 / 7739
2
 (HPO:0005280) Depressed nasal bridge 381 / 7739
3
 (HPO:0000154) Wide mouth 137 / 7739
4
 (HPO:0000179) Thick lower lip vermilion 72 / 7739
5
 (HPO:0000272) Malar flattening 277 / 7739
6
 (HPO:0000463) Anteverted nares 305 / 7739
7
 (HPO:0000581) Blepharophimosis 197 / 7739
8
 (HPO:0000343) Long philtrum 262 / 7739
9
 (HPO:0000582) Upslanted palpebral fissure 185 / 7739
10
 (HPO:0000215) Thick upper lip vermilion 17 / 7739
11
 (HPO:0000311) Round face 104 / 7739
12
 (HPO:0000470) Short neck 345 / 7739
13
 (HPO:0007665) Curly eyelashes 6 / 7739
14
 (HPO:0000280) Coarse facial features 189 / 7739
15
 (HPO:0011800) Midface retrusion 221 / 7739
16
 (HPO:0008551) Microtia 98 / 7739
17
 (HPO:0006216) Single interphalangeal crease of fifth finger 3 / 7739
18
 (HPO:0003026) Short long bone 51 / 7739
19
 (HPO:0001831) Short toe 52 / 7739
20
 (HPO:0005069) Rhizo-meso-acromelic limb shortening 1 / 7739
21
 (HPO:0005257) Thoracic hypoplasia 79 / 7739
22
 (HPO:0006192) Tapered phalanx of finger 1 / 7739
23
 (HPO:0002663) Delayed epiphyseal ossification 21 / 7739
24
 (HPO:0004634) Cuboid-shaped vertebral bodies 4 / 7739
25
 (HPO:0010585) Small epiphyses 16 / 7739
26
 (HPO:0001156) Brachydactyly syndrome 180 / 7739
27
 (HPO:0004580) Anterior scalloping of vertebral bodies 2 / 7739
28
 (HPO:0009803) Short phalanx of finger 79 / 7739
29
 (HPO:0002967) Cubitus valgus 49 / 7739
30
 (HPO:0001371) Flexion contracture 220 / 7739
31
 (HPO:0004279) Short palm 323 / 7739
32
 (HPO:0006108) Tapered metacarpals 1 / 7739
33
 (HPO:0001773) Short foot 86 / 7739
34
 (HPO:0000767) Pectus excavatum 244 / 7739
35
 (HPO:0000926) Platyspondyly 150 / 7739
36
 (HPO:0002866) Hypoplastic iliac wing 34 / 7739
37
 (HPO:0001498) Carpal bone hypoplasia 17 / 7739
38
 (HPO:0010049) Short metacarpal 99 / 7739
39
 (HPO:0002655) Spondyloepiphyseal dysplasia 21 / 7739
40
 (HPO:0008873) Disproportionate short-limb short stature 39 / 7739
41
 (HPO:0008897) Postnatal growth retardation 113 / 7739
42
 (HPO:0001620) High pitched voice 32 / 7739
43
 (HPO:0002091) Restrictive ventilatory defect 46 / 7739
44
 (HPO:0001609) Hoarse voice 34 / 7739
45
 (OMIM) Wide neck 1 / 7739
46
 (OMIM) Thickened clavicles 1 / 7739
47
 (OMIM) Generalized epiphyseal ossification delay 1 / 7739
48
 (OMIM) Limited supination 2 / 7739
49
 (OMIM) Curly eyebrows 1 / 7739
50
 (OMIM) Short, tapered phalanges 1 / 7739
51
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
52
 (OMIM) High-pitched, coarse voice 1 / 7739
53
 (OMIM) Abundant thick, curly scalp hair 1 / 7739
54
 (OMIM) Mild platyspondyly 14 / 7739
55
 (MedDRA:10072883) Brachydactyly 153 / 7739
56
 (OMIM) Limited pronation 1 / 7739
57
 (OMIM) Brachymetacarpals 1 / 7739
58
 (OMIM) Lack of lumbar lordosis 1 / 7739
59
 (OMIM) Growth retardation, progressive 1 / 7739
60
 (OMIM) Abundant and curly eyebrows 1 / 7739
61
 (OMIM) Joint contractures, mild 3 / 7739
62
 (OMIM) Brachymetatarsals 1 / 7739
63
 (OMIM) Short, tapered metacarpals 1 / 7739
64
 (OMIM) Abundant and curly eyelashes 1 / 7739
65
 (OMIM) Birth length normal 15 / 7739
66
 (OMIM) Low-set nuchal hair 1 / 7739
67
 (OMIM) Increased hair on arms and legs 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Cantu et al. (1991) described 2 unrelated patients, a 21-year-old male and an 11-year-old female, with a form of osteochondrodysplasia that was later called spondyloepiphyseal dysplasia-brachydactyly and distinctive speech (SED-BDS), Fantasy Island syndrome, or Tattoo dysplasia (Cantu, 1995; ...