MCID: SPN141
MIFTS: 22

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 57 53 73
Sed-Bds 57 53 59
Fantasy Island Syndrome 57 53
Tattoo Dysplasia 53 59
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome 59
Spondyloepiphyseal Dysplasia, Cantu Type 59
Tatoo Dysplasia 57

Characteristics:

Orphanet epidemiological data:

59
spondyloepiphyseal dysplasia, cantu type
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
spondyloepiphyseal dysplasia-brachydactyly and distinctive speech:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Spondyloepiphyseal Dysplasia-Brachydactyly and Distinctive...

NIH Rare Diseases : 53 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, eye and lung, 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...

Symptoms via clinical synopsis from OMIM:

57
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

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

59 32 (show top 50) (show all 66)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short neck 59 32 frequent (33%) Frequent (79-30%) HP:0000470
2 pectus excavatum 59 32 frequent (33%) Frequent (79-30%) HP:0000767
3 delayed skeletal maturation 59 32 frequent (33%) Frequent (79-30%) HP:0002750
4 depressed nasal bridge 59 32 frequent (33%) Frequent (79-30%) HP:0005280
5 wide nasal bridge 59 32 frequent (33%) Frequent (79-30%) HP:0000431
6 microtia 59 32 frequent (33%) Frequent (79-30%) HP:0008551
7 anteverted nares 59 32 frequent (33%) Frequent (79-30%) HP:0000463
8 thick eyebrow 59 32 frequent (33%) Frequent (79-30%) HP:0000574
9 long philtrum 59 32 frequent (33%) Frequent (79-30%) HP:0000343
10 thick lower lip vermilion 59 32 frequent (33%) Frequent (79-30%) HP:0000179
11 short long bone 59 32 frequent (33%) Frequent (79-30%) HP:0003026
12 short thorax 59 32 frequent (33%) Frequent (79-30%) HP:0010306
13 cryptorchidism 59 32 frequent (33%) Frequent (79-30%) HP:0000028
14 enlarged thorax 59 32 frequent (33%) Frequent (79-30%) HP:0100625
15 cubitus valgus 59 32 frequent (33%) Frequent (79-30%) HP:0002967
16 broad neck 59 32 frequent (33%) Frequent (79-30%) HP:0000475
17 low posterior hairline 59 32 frequent (33%) Frequent (79-30%) HP:0002162
18 wide mouth 59 32 frequent (33%) Frequent (79-30%) HP:0000154
19 abnormality of the voice 59 32 frequent (33%) Frequent (79-30%) HP:0001608
20 upslanted palpebral fissure 59 32 frequent (33%) Frequent (79-30%) HP:0000582
21 brachydactyly 59 32 frequent (33%) Frequent (79-30%) HP:0001156
22 blepharophimosis 59 32 frequent (33%) Frequent (79-30%) HP:0000581
23 thick upper lip vermilion 59 32 frequent (33%) Frequent (79-30%) HP:0000215
24 abnormality of the chin 59 32 frequent (33%) Frequent (79-30%) HP:0000306
25 nail dysplasia 59 32 frequent (33%) Frequent (79-30%) HP:0002164
26 curly hair 59 32 frequent (33%) Frequent (79-30%) HP:0002212
27 cuboid-shaped vertebral bodies 59 32 frequent (33%) Frequent (79-30%) HP:0004634
28 rhizo-meso-acromelic limb shortening 59 32 frequent (33%) Frequent (79-30%) HP:0005069
29 broad long bones 59 32 frequent (33%) Frequent (79-30%) HP:0005622
30 limited pronation/supination of forearm 59 32 frequent (33%) Frequent (79-30%) HP:0006394
31 curly eyelashes 59 32 frequent (33%) Frequent (79-30%) HP:0007665
32 multiple rows of eyelashes 59 32 frequent (33%) Frequent (79-30%) HP:0008496
33 hypoplastic pelvis 59 32 frequent (33%) Frequent (79-30%) HP:0008839
34 facial hirsutism 59 32 frequent (33%) Frequent (79-30%) HP:0009937
35 narrow philtrum 59 32 frequent (33%) Frequent (79-30%) HP:0011829
36 malar flattening 32 HP:0000272
37 coarse facial features 32 HP:0000280
38 short stature 59 Frequent (79-30%)
39 flexion contracture 32 HP:0001371
40 platyspondyly 32 HP:0000926
41 short palm 32 HP:0004279
42 carpal bone hypoplasia 32 HP:0001498
43 short foot 32 HP:0001773
44 postnatal growth retardation 32 HP:0008897
45 short toe 32 HP:0001831
46 hypoplastic iliac wing 32 HP:0002866
47 round face 32 HP:0000311
48 hoarse voice 32 HP:0001609
49 midface retrusion 32 HP:0011800
50 abnormality of the palate 59 Frequent (79-30%)

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:

41
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
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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