MCID: SPN141
MIFTS: 23

Spondyloepiphyseal Dysplasia-Brachydactyly and Distinctive Speech

Categories: Rare diseases, Bone diseases, Fetal 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 53 49 69
Sed-Bds 53 49 55
Fantasy Island Syndrome 53 49
Tattoo Dysplasia 49 55
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome 55
Spondyloepiphyseal Dysplasia, Cantu Type 55
Tatoo Dysplasia 53

Characteristics:

Orphanet epidemiological data:

55
spondyloepiphyseal dysplasia, cantu type
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

53
Inheritance:
autosomal dominant


HPO:

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


Classifications:



Summaries for Spondyloepiphyseal Dysplasia-Brachydactyly and Distinctive...

NIH Rare Diseases : 49 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 163654Disease definitionSpondyloepiphyseal 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. Last updated: 2/29/2012

MalaCards based summary : Spondyloepiphyseal Dysplasia-Brachydactyly and Distinctive Speech, is also known as sed-bds, and has symptoms including short neck, pectus excavatum and delayed skeletal maturation. Affiliated tissues include bone, eye and lung.

Description from OMIM: 611717

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

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

Symptoms via clinical synopsis from OMIM:

53
Head And Neck Neck:
short neck
wide neck

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

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

Skeletal Feet:
brachydactyly
short feet
brachymetatarsals

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

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

Head And Neck Mouth:
large mouth
thick lower lip

Skeletal Pelvis:
hypoplastic iliac wings

Growth Other:
growth retardation, progressive

Voice:
high-pitched, coarse voice

Chest RibsSternum Clavicles And Scapulae:
pectus excavatum
thickened clavicles

Head And Neck Face:
long philtrum
round face
midface hypoplasia
coarse facies

Skeletal Hands:
brachydactyly
short hands
small carpals
short, tapered phalanges
single interphalangeal crease of fifth finger
more
Head And Neck Eyes:
blepharophimosis
curly eyelashes
upslanting palpebral fissures
curly eyebrows

Respiratory Lung:
restrictive lung disease

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

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

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

55 31 (show top 50) (show all 64)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short neck 55 31 frequent (33%) Frequent (79-30%) HP:0000470
2 pectus excavatum 55 31 frequent (33%) Frequent (79-30%) HP:0000767
3 delayed skeletal maturation 55 31 frequent (33%) Frequent (79-30%) HP:0002750
4 depressed nasal bridge 55 31 frequent (33%) Frequent (79-30%) HP:0005280
5 wide nasal bridge 55 31 frequent (33%) Frequent (79-30%) HP:0000431
6 microtia 55 31 frequent (33%) Frequent (79-30%) HP:0008551
7 anteverted nares 55 31 frequent (33%) Frequent (79-30%) HP:0000463
8 thick eyebrow 55 31 frequent (33%) Frequent (79-30%) HP:0000574
9 long philtrum 55 31 frequent (33%) Frequent (79-30%) HP:0000343
10 thick lower lip vermilion 55 31 frequent (33%) Frequent (79-30%) HP:0000179
11 short long bone 55 31 frequent (33%) Frequent (79-30%) HP:0003026
12 short thorax 55 31 frequent (33%) Frequent (79-30%) HP:0010306
13 cryptorchidism 55 31 frequent (33%) Frequent (79-30%) HP:0000028
14 enlarged thorax 55 31 frequent (33%) Frequent (79-30%) HP:0100625
15 cubitus valgus 55 31 frequent (33%) Frequent (79-30%) HP:0002967
16 broad neck 55 31 frequent (33%) Frequent (79-30%) HP:0000475
17 low posterior hairline 55 31 frequent (33%) Frequent (79-30%) HP:0002162
18 wide mouth 55 31 frequent (33%) Frequent (79-30%) HP:0000154
19 abnormality of the voice 55 31 frequent (33%) Frequent (79-30%) HP:0001608
20 upslanted palpebral fissure 55 31 frequent (33%) Frequent (79-30%) HP:0000582
21 brachydactyly 55 31 frequent (33%) Frequent (79-30%) HP:0001156
22 blepharophimosis 55 31 frequent (33%) Frequent (79-30%) HP:0000581
23 abnormality of the palate 55 31 frequent (33%) Frequent (79-30%) HP:0000174
24 thick upper lip vermilion 55 31 frequent (33%) Frequent (79-30%) HP:0000215
25 abnormality of the chin 55 31 frequent (33%) Frequent (79-30%) HP:0000306
26 abnormality of the metatarsal bones 55 31 frequent (33%) Frequent (79-30%) HP:0001832
27 nail dysplasia 55 31 frequent (33%) Frequent (79-30%) HP:0002164
28 curly hair 55 31 frequent (33%) Frequent (79-30%) HP:0002212
29 cuboid-shaped vertebral bodies 55 31 frequent (33%) Frequent (79-30%) HP:0004634
30 rhizo-meso-acromelic limb shortening 55 31 frequent (33%) Frequent (79-30%) HP:0005069
31 broad long bones 55 31 frequent (33%) Frequent (79-30%) HP:0005622
32 limited pronation/supination of forearm 55 31 frequent (33%) Frequent (79-30%) HP:0006394
33 curly eyelashes 55 31 frequent (33%) Frequent (79-30%) HP:0007665
34 multiple rows of eyelashes 55 31 frequent (33%) Frequent (79-30%) HP:0008496
35 hypoplastic pelvis 55 31 frequent (33%) Frequent (79-30%) HP:0008839
36 facial hirsutism 55 31 frequent (33%) Frequent (79-30%) HP:0009937
37 narrow philtrum 55 31 frequent (33%) Frequent (79-30%) HP:0011829
38 malar flattening 31 HP:0000272
39 coarse facial features 31 HP:0000280
40 short stature 55 Frequent (79-30%)
41 flexion contracture 31 HP:0001371
42 platyspondyly 31 HP:0000926
43 short palm 31 HP:0004279
44 carpal bone hypoplasia 31 HP:0001498
45 short foot 31 HP:0001773
46 postnatal growth retardation 31 HP:0008897
47 short toe 31 HP:0001831
48 hypoplastic iliac wing 31 HP:0002866
49 round face 31 HP:0000311
50 hoarse voice 31 HP:0001609

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:

38
Bone, Eye, Lung

Publications for Spondyloepiphyseal Dysplasia-Brachydactyly and Distinctive...

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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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