MCID: SPN141
MIFTS: 23

Spondyloepiphyseal Dysplasia-Brachydactyly and Distinctive Speech

Categories: Bone diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Spondyloepiphyseal Dysplasia-Brachydactyly and Distinctive...

MalaCards integrated aliases for Spondyloepiphyseal Dysplasia-Brachydactyly and Distinctive Speech:

Name: Spondyloepiphyseal Dysplasia-Brachydactyly and Distinctive Speech 57 20 71
Sed-Bds 57 20 58
Fantasy Island Syndrome 57 20
Tattoo Dysplasia 20 58
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome 58
Spondyloepiphyseal Dysplasia, Cantu Type 58
Tatoo Dysplasia 57

Characteristics:

Orphanet epidemiological data:

58
spondyloepiphyseal dysplasia, cantu type
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant


HPO:

31
spondyloepiphyseal dysplasia-brachydactyly and distinctive speech:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


Summaries for Spondyloepiphyseal Dysplasia-Brachydactyly and Distinctive...

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 163654DefinitionSpondyloepiphyseal dysplasia, Cantu type is an extremely rare type of spondyloepiphyseal dysplasia (see this term) described in about 5 patients to date and characterized by clinical signs including short stature, peculiar facies with blepharophimosis, upward slanted eyes, abundant eyebrows and eyelashes, coarse voice, and short hands and feet (brachymetacarpalia, brachymetatarsalia and brachyphalangia).Visit the Orphanet disease page for more resources.

MalaCards based summary : Spondyloepiphyseal Dysplasia-Brachydactyly and Distinctive Speech, also known as sed-bds, is related to acromicric dysplasia and odontochondrodysplasia. Affiliated tissues include bone and lung, and related phenotypes are short neck and delayed skeletal maturation

More information from OMIM: 611717

Related Diseases for Spondyloepiphyseal Dysplasia-Brachydactyly and Distinctive...

Diseases related to Spondyloepiphyseal Dysplasia-Brachydactyly and Distinctive Speech via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 acromicric dysplasia 10.0
2 odontochondrodysplasia 10.0
3 blepharophimosis 10.0
4 dwarfism 10.0

Symptoms & Phenotypes for Spondyloepiphyseal Dysplasia-Brachydactyly and Distinctive...

Human phenotypes related to Spondyloepiphyseal Dysplasia-Brachydactyly and Distinctive Speech:

58 31 (show top 50) (show all 65)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short neck 58 31 frequent (33%) Frequent (79-30%) HP:0000470
2 delayed skeletal maturation 58 31 frequent (33%) Frequent (79-30%) HP:0002750
3 depressed nasal bridge 58 31 frequent (33%) Frequent (79-30%) HP:0005280
4 wide nasal bridge 58 31 frequent (33%) Frequent (79-30%) HP:0000431
5 microtia 58 31 frequent (33%) Frequent (79-30%) HP:0008551
6 anteverted nares 58 31 frequent (33%) Frequent (79-30%) HP:0000463
7 thick eyebrow 58 31 frequent (33%) Frequent (79-30%) HP:0000574
8 thick lower lip vermilion 58 31 frequent (33%) Frequent (79-30%) HP:0000179
9 short thorax 58 31 frequent (33%) Frequent (79-30%) HP:0010306
10 enlarged thorax 58 31 frequent (33%) Frequent (79-30%) HP:0100625
11 cryptorchidism 58 31 frequent (33%) Frequent (79-30%) HP:0000028
12 cubitus valgus 58 31 frequent (33%) Frequent (79-30%) HP:0002967
13 broad neck 58 31 frequent (33%) Frequent (79-30%) HP:0000475
14 low posterior hairline 58 31 frequent (33%) Frequent (79-30%) HP:0002162
15 pectus excavatum 58 31 frequent (33%) Frequent (79-30%) HP:0000767
16 wide mouth 58 31 frequent (33%) Frequent (79-30%) HP:0000154
17 upslanted palpebral fissure 58 31 frequent (33%) Frequent (79-30%) HP:0000582
18 brachydactyly 58 31 frequent (33%) Frequent (79-30%) HP:0001156
19 long philtrum 58 31 frequent (33%) Frequent (79-30%) HP:0000343
20 abnormality of the voice 58 31 frequent (33%) Frequent (79-30%) HP:0001608
21 blepharophimosis 58 31 frequent (33%) Frequent (79-30%) HP:0000581
22 nail dysplasia 58 31 frequent (33%) Frequent (79-30%) HP:0002164
23 curly eyelashes 58 31 frequent (33%) Frequent (79-30%) HP:0007665
24 abnormal palate morphology 58 31 frequent (33%) Frequent (79-30%) HP:0000174
25 thick upper lip vermilion 58 31 frequent (33%) Frequent (79-30%) HP:0000215
26 broad long bones 58 31 frequent (33%) Frequent (79-30%) HP:0005622
27 short long bone 58 31 frequent (33%) Frequent (79-30%) HP:0003026
28 cuboid-shaped vertebral bodies 58 31 frequent (33%) Frequent (79-30%) HP:0004634
29 hypoplastic pelvis 58 31 frequent (33%) Frequent (79-30%) HP:0008839
30 curly hair 58 31 frequent (33%) Frequent (79-30%) HP:0002212
31 facial hirsutism 58 31 frequent (33%) Frequent (79-30%) HP:0009937
32 limited pronation/supination of forearm 58 31 frequent (33%) Frequent (79-30%) HP:0006394
33 abnormality of the chin 58 31 frequent (33%) Frequent (79-30%) HP:0000306
34 rhizo-meso-acromelic limb shortening 58 31 frequent (33%) Frequent (79-30%) HP:0005069
35 multiple rows of eyelashes 58 31 frequent (33%) Frequent (79-30%) HP:0008496
36 narrow philtrum 58 31 frequent (33%) Frequent (79-30%) HP:0011829
37 abnormal metatarsal morphology 31 frequent (33%) HP:0001832
38 coarse facial features 31 HP:0000280
39 short stature 58 Frequent (79-30%)
40 flexion contracture 31 HP:0001371
41 postnatal growth retardation 31 HP:0008897
42 short toe 31 HP:0001831
43 platyspondyly 31 HP:0000926
44 malar flattening 31 HP:0000272
45 hoarse voice 31 HP:0001609
46 round face 31 HP:0000311
47 high pitched voice 31 HP:0001620
48 midface retrusion 31 HP:0011800
49 short metacarpal 31 HP:0010049
50 short foot 31 HP:0001773

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Head And Neck Neck:
short neck
wide neck

Skeletal Limbs:
cubitus valgus
rhizo-meso-acromelic limb shortening
short long bones
limited supination
limited pronation

Skeletal Hands:
brachydactyly
single interphalangeal crease of fifth finger
short hands
small carpals
short, tapered phalanges
more
Head And Neck Face:
long philtrum
round face
midface hypoplasia
coarse facies

Skeletal Spine:
cuboid-shaped vertebral bodies
mild platyspondyly
lack of lumbar lordosis
anterior scalloping vertebral bodies

Growth Height:
normal birth length
short stature, disproportionate short limb

Head And Neck Mouth:
large mouth
thick lower lip

Skeletal Pelvis:
hypoplastic iliac wings

Growth Other:
growth retardation, progressive

Voice:
high-pitched, coarse voice

Head And Neck Nose:
depressed nasal bridge
broad nasal bridge
upturned nose

Chest Ribs Sternum Clavicles And Scapulae:
pectus excavatum
thickened clavicles

Skeletal Feet:
brachydactyly
short feet
brachymetatarsals

Head And Neck Eyes:
blepharophimosis
curly eyelashes
upslanting palpebral fissures
curly eyebrows

Skeletal:
spondyloepiphyseal dysplasia
small epiphyses
mild joint contractures
generalized epiphyseal ossification delay

Respiratory Lung:
restrictive lung disease

Chest External Features:
small thorax

Head And Neck Ears:
small pinnae

Skin Nails Hair Hair:
abundant thick, curly scalp hair
abundant and curly eyelashes
abundant and curly eyebrows
increased hair on arms and legs
low-set nuchal hair

Clinical features from OMIM®:

611717 (Updated 05-Mar-2021)

Drugs & Therapeutics for Spondyloepiphyseal Dysplasia-Brachydactyly and Distinctive...

Search Clinical Trials , NIH Clinical Center for Spondyloepiphyseal Dysplasia-Brachydactyly and Distinctive Speech

Genetic Tests for Spondyloepiphyseal Dysplasia-Brachydactyly and Distinctive...

Anatomical Context for Spondyloepiphyseal Dysplasia-Brachydactyly and Distinctive...

MalaCards organs/tissues related to Spondyloepiphyseal Dysplasia-Brachydactyly and Distinctive Speech:

40
Bone, Lung

Publications for Spondyloepiphyseal Dysplasia-Brachydactyly and Distinctive...

Articles related to Spondyloepiphyseal Dysplasia-Brachydactyly and Distinctive Speech:

# Title Authors PMID Year
1
SED-brachydactyly and distinctive speech: report of two new cases. 61 57
17515304 2007
2
[The "Fantasy Island" syndrome. Identification of a new osteochondrodysplasia probably of autosomal dominant type]. 57
7493737 1995

Variations for Spondyloepiphyseal Dysplasia-Brachydactyly and Distinctive...

Expression for Spondyloepiphyseal Dysplasia-Brachydactyly and Distinctive...

Search GEO for disease gene expression data for Spondyloepiphyseal Dysplasia-Brachydactyly and Distinctive Speech.

Pathways for Spondyloepiphyseal Dysplasia-Brachydactyly and Distinctive...

GO Terms for Spondyloepiphyseal Dysplasia-Brachydactyly and Distinctive...

Sources for Spondyloepiphyseal Dysplasia-Brachydactyly and Distinctive...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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