MCID: SPN141
MIFTS: 25

Spondyloepiphyseal Dysplasia-Brachydactyly and Distinctive Speech

Categories: Bone diseases, Eye diseases, Fetal diseases, Rare diseases
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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 11 19 43 71
Sed-Bds 57 11 19 58
Fantasy Island Syndrome 57 11 19
Tattoo Dysplasia 11 19 58
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome 58
Sed-Brachydactyly and Distinctive Speech 11
Spondyloepiphyseal Dysplasia, Cantu Type 11
Tatoo Dysplasia 57

Characteristics:


Inheritance:

Autosomal dominant 57

Prevelance:

Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome: <1/1000000 (Worldwide) 58

Age Of Onset:

Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome: Infancy,Neonatal 58

Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 11 DOID:0112287
OMIM® 57 611717
MeSH 43 C567128
SNOMED-CT 68 718765003
ICD10 via Orphanet 32 Q77.7
UMLS via Orphanet 72 C2673649
Orphanet 58 ORPHA163654
MedGen 40 C2673649
UMLS 71 C2673649

Summaries for Spondyloepiphyseal Dysplasia-Brachydactyly and Distinctive...

GARD: 19 Spondyloepiphyseal 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).

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

Orphanet: 58 Spondyloepiphyseal 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).

Disease Ontology: 11 A spondyloepiphyseal dysplasia characterized by spondyloepiphyseal dysplasia, brachydactyly, and distinctive speech.

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 spondyloepiphyseal dysplasia with congenital joint dislocations 10.3
2 brachydactyly 10.3
3 acromicric dysplasia 10.0
4 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 10.0
5 blepharophimosis 10.0
6 osteochondrodysplasia 10.0

Graphical network of the top 20 diseases related to Spondyloepiphyseal Dysplasia-Brachydactyly and Distinctive Speech:



Diseases related to Spondyloepiphyseal Dysplasia-Brachydactyly and Distinctive Speech

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

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

58 30 (show top 50) (show all 64)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short neck 58 30 Frequent (33%) Frequent (79-30%)
HP:0000470
2 delayed skeletal maturation 58 30 Frequent (33%) Frequent (79-30%)
HP:0002750
3 depressed nasal bridge 58 30 Frequent (33%) Frequent (79-30%)
HP:0005280
4 wide nasal bridge 58 30 Frequent (33%) Frequent (79-30%)
HP:0000431
5 microtia 58 30 Frequent (33%) Frequent (79-30%)
HP:0008551
6 anteverted nares 58 30 Frequent (33%) Frequent (79-30%)
HP:0000463
7 thick eyebrow 58 30 Frequent (33%) Frequent (79-30%)
HP:0000574
8 thick lower lip vermilion 58 30 Frequent (33%) Frequent (79-30%)
HP:0000179
9 short thorax 58 30 Frequent (33%) Frequent (79-30%)
HP:0010306
10 enlarged thorax 58 30 Frequent (33%) Frequent (79-30%)
HP:0100625
11 cryptorchidism 58 30 Frequent (33%) Frequent (79-30%)
HP:0000028
12 cubitus valgus 58 30 Frequent (33%) Frequent (79-30%)
HP:0002967
13 broad neck 58 30 Frequent (33%) Frequent (79-30%)
HP:0000475
14 low posterior hairline 58 30 Frequent (33%) Frequent (79-30%)
HP:0002162
15 pectus excavatum 58 30 Frequent (33%) Frequent (79-30%)
HP:0000767
16 upslanted palpebral fissure 58 30 Frequent (33%) Frequent (79-30%)
HP:0000582
17 brachydactyly 58 30 Frequent (33%) Frequent (79-30%)
HP:0001156
18 long philtrum 58 30 Frequent (33%) Frequent (79-30%)
HP:0000343
19 abnormality of the voice 58 30 Frequent (33%) Frequent (79-30%)
HP:0001608
20 wide mouth 58 30 Frequent (33%) Frequent (79-30%)
HP:0000154
21 blepharophimosis 58 30 Frequent (33%) Frequent (79-30%)
HP:0000581
22 nail dysplasia 58 30 Frequent (33%) Frequent (79-30%)
HP:0002164
23 curly eyelashes 58 30 Frequent (33%) Frequent (79-30%)
HP:0007665
24 abnormal palate morphology 58 30 Frequent (33%) Frequent (79-30%)
HP:0000174
25 thick upper lip vermilion 58 30 Frequent (33%) Frequent (79-30%)
HP:0000215
26 broad long bones 58 30 Frequent (33%) Frequent (79-30%)
HP:0005622
27 short long bone 58 30 Frequent (33%) Frequent (79-30%)
HP:0003026
28 cuboid-shaped vertebral bodies 58 30 Frequent (33%) Frequent (79-30%)
HP:0004634
29 hypoplastic pelvis 58 30 Frequent (33%) Frequent (79-30%)
HP:0008839
30 curly hair 58 30 Frequent (33%) Frequent (79-30%)
HP:0002212
31 facial hirsutism 58 30 Frequent (33%) Frequent (79-30%)
HP:0009937
32 limited pronation/supination of forearm 58 30 Frequent (33%) Frequent (79-30%)
HP:0006394
33 abnormality of the chin 58 30 Frequent (33%) Frequent (79-30%)
HP:0000306
34 abnormal metatarsal morphology 58 30 Frequent (33%) Frequent (79-30%)
HP:0001832
35 rhizo-meso-acromelic limb shortening 58 30 Frequent (33%) Frequent (79-30%)
HP:0005069
36 multiple rows of eyelashes 58 30 Frequent (33%) Frequent (79-30%)
HP:0008496
37 narrow philtrum 58 30 Frequent (33%) Frequent (79-30%)
HP:0011829
38 coarse facial features 30 HP:0000280
39 short stature 58 Frequent (79-30%)
40 flexion contracture 30 HP:0001371
41 postnatal growth retardation 30 HP:0008897
42 short toe 30 HP:0001831
43 platyspondyly 30 HP:0000926
44 malar flattening 30 HP:0000272
45 hoarse voice 30 HP:0001609
46 round face 30 HP:0000311
47 high pitched voice 30 HP:0001620
48 midface retrusion 30 HP:0011800
49 short metacarpal 30 HP:0010049
50 short foot 30 HP:0001773

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
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 08-Dec-2022)

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

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

Cochrane evidence based reviews: spondyloepiphyseal dysplasia-brachydactyly and distinctive speech

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

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

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

MalaCards : 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. 62 57
17515304 2007
2
[The "Fantasy Island" syndrome. Identification of a new osteochondrodysplasia probably of autosomal dominant type]. 62 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...

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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