MCID: SPN141
MIFTS: 20

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 58 54 74
Sed-Bds 58 54 60
Fantasy Island Syndrome 58 54
Tattoo Dysplasia 54 60
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome 60
Spondyloepiphyseal Dysplasia, Cantu Type 60
Tatoo Dysplasia 58

Characteristics:

Orphanet epidemiological data:

60
spondyloepiphyseal dysplasia, cantu type
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
spondyloepiphyseal dysplasia-brachydactyly and distinctive speech:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Spondyloepiphyseal Dysplasia-Brachydactyly and Distinctive...

NIH Rare Diseases : 54 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.

MalaCards based summary : Spondyloepiphyseal Dysplasia-Brachydactyly and Distinctive Speech, is also known as sed-bds. Affiliated tissues include bone and eye, and related phenotypes are short neck and pectus excavatum

Description from OMIM: 611717

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

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

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

60 33 (show top 50) (show all 65)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short neck 60 33 frequent (33%) Frequent (79-30%) HP:0000470
2 pectus excavatum 60 33 frequent (33%) Frequent (79-30%) HP:0000767
3 delayed skeletal maturation 60 33 frequent (33%) Frequent (79-30%) HP:0002750
4 depressed nasal bridge 60 33 frequent (33%) Frequent (79-30%) HP:0005280
5 wide nasal bridge 60 33 frequent (33%) Frequent (79-30%) HP:0000431
6 microtia 60 33 frequent (33%) Frequent (79-30%) HP:0008551
7 anteverted nares 60 33 frequent (33%) Frequent (79-30%) HP:0000463
8 thick eyebrow 60 33 frequent (33%) Frequent (79-30%) HP:0000574
9 long philtrum 60 33 frequent (33%) Frequent (79-30%) HP:0000343
10 thick lower lip vermilion 60 33 frequent (33%) Frequent (79-30%) HP:0000179
11 short long bone 60 33 frequent (33%) Frequent (79-30%) HP:0003026
12 short thorax 60 33 frequent (33%) Frequent (79-30%) HP:0010306
13 cryptorchidism 60 33 frequent (33%) Frequent (79-30%) HP:0000028
14 enlarged thorax 60 33 frequent (33%) Frequent (79-30%) HP:0100625
15 cubitus valgus 60 33 frequent (33%) Frequent (79-30%) HP:0002967
16 broad neck 60 33 frequent (33%) Frequent (79-30%) HP:0000475
17 low posterior hairline 60 33 frequent (33%) Frequent (79-30%) HP:0002162
18 wide mouth 60 33 frequent (33%) Frequent (79-30%) HP:0000154
19 abnormality of the voice 60 33 frequent (33%) Frequent (79-30%) HP:0001608
20 upslanted palpebral fissure 60 33 frequent (33%) Frequent (79-30%) HP:0000582
21 brachydactyly 60 33 frequent (33%) Frequent (79-30%) HP:0001156
22 blepharophimosis 60 33 frequent (33%) Frequent (79-30%) HP:0000581
23 abnormal palate morphology 60 33 frequent (33%) Frequent (79-30%) HP:0000174
24 thick upper lip vermilion 60 33 frequent (33%) Frequent (79-30%) HP:0000215
25 abnormality of the chin 60 33 frequent (33%) Frequent (79-30%) HP:0000306
26 nail dysplasia 60 33 frequent (33%) Frequent (79-30%) HP:0002164
27 curly hair 60 33 frequent (33%) Frequent (79-30%) HP:0002212
28 cuboid-shaped vertebral bodies 60 33 frequent (33%) Frequent (79-30%) HP:0004634
29 rhizo-meso-acromelic limb shortening 60 33 frequent (33%) Frequent (79-30%) HP:0005069
30 broad long bones 60 33 frequent (33%) Frequent (79-30%) HP:0005622
31 limited pronation/supination of forearm 60 33 frequent (33%) Frequent (79-30%) HP:0006394
32 curly eyelashes 60 33 frequent (33%) Frequent (79-30%) HP:0007665
33 multiple rows of eyelashes 60 33 frequent (33%) Frequent (79-30%) HP:0008496
34 hypoplastic pelvis 60 33 frequent (33%) Frequent (79-30%) HP:0008839
35 facial hirsutism 60 33 frequent (33%) Frequent (79-30%) HP:0009937
36 narrow philtrum 60 33 frequent (33%) Frequent (79-30%) HP:0011829
37 abnormal metatarsal morphology 33 frequent (33%) HP:0001832
38 malar flattening 33 HP:0000272
39 coarse facial features 33 HP:0000280
40 short stature 60 Frequent (79-30%)
41 flexion contracture 33 HP:0001371
42 platyspondyly 33 HP:0000926
43 short palm 33 HP:0004279
44 carpal bone hypoplasia 33 HP:0001498
45 short foot 33 HP:0001773
46 postnatal growth retardation 33 HP:0008897
47 short toe 33 HP:0001831
48 hypoplastic iliac wing 33 HP:0002866
49 round face 33 HP:0000311
50 hoarse voice 33 HP:0001609

Symptoms via clinical synopsis from OMIM:

58
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

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

Chest Ribs Sternum 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

Skeletal:
small epiphyses
spondyloepiphyseal dysplasia
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

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:

42
Bone, Eye

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
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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