MCID: SPN141
MIFTS: 19

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 54 50 69
Tattoo Dysplasia 50 56
Sed-Bds 50 56
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome 56
Spondyloepiphyseal Dysplasia, Cantu Type 56
Fantasy Island Syndrome 50

Characteristics:

Orphanet epidemiological data:

56
spondyloepiphyseal dysplasia, cantu type
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

54
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 : 50 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 tattoo dysplasia, and has symptoms including brachydactyly, wide mouth and depressed nasal bridge. Affiliated tissues include eye, bone 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:

54

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

Skeletal- Hands:
brachydactyly
short hands
small carpals
short, tapered phalanges
single interphalangeal crease of fifth finger
more
Head And Neck- Nose:
depressed nasal bridge
upturned nose
broad nasal bridge

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

Skeletal- Pelvis:
hypoplastic iliac wings

Head And Neck- Eyes:
blepharophimosis
upslanted palpebral fissures
curly eyebrows
curly eyelashes

Chest- External Features:
small thorax

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

Head And Neck- Ears:
small pinnae

Voice:
high-pitched, coarse voice

Head And Neck- Mouth:
large mouth
thick lower lip

Skeletal- Feet:
brachydactyly
short feet
brachymetatarsals

Head And Neck- Neck:
short neck
wide neck

Chest- Ribs Sternum Clavicles And Scapulae:
pectus excavatum
thickened clavicles

Respiratory- Lung:
restrictive lung disease

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

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

Growth- Other:
growth retardation, progressive

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:

32 (show all 43)
id Description HPO Frequency HPO Source Accession
1 brachydactyly 32 HP:0001156
2 wide mouth 32 HP:0000154
3 depressed nasal bridge 32 HP:0005280
4 coarse facial features 32 HP:0000280
5 round face 32 HP:0000311
6 platyspondyly 32 HP:0000926
7 anteverted nares 32 HP:0000463
8 short neck 32 HP:0000470
9 long philtrum 32 HP:0000343
10 wide nasal bridge 32 HP:0000431
11 pectus excavatum 32 HP:0000767
12 carpal bone hypoplasia 32 HP:0001498
13 midface retrusion 32 HP:0011800
14 postnatal growth retardation 32 HP:0008897
15 blepharophimosis 32 HP:0000581
16 cubitus valgus 32 HP:0002967
17 microtia 32 HP:0008551
18 spondyloepiphyseal dysplasia 32 HP:0002655
19 malar flattening 32 HP:0000272
20 high pitched voice 32 HP:0001620
21 hoarse voice 32 HP:0001609
22 hypoplastic iliac wing 32 HP:0002866
23 thick lower lip vermilion 32 HP:0000179
24 thoracic hypoplasia 32 HP:0005257
25 short metacarpal 32 HP:0010049
26 small epiphyses 32 HP:0010585
27 delayed epiphyseal ossification 32 HP:0002663
28 curly eyelashes 32 HP:0007665
29 cuboid-shaped vertebral bodies 32 HP:0004634
30 rhizo-meso-acromelic limb shortening 32 HP:0005069
31 single interphalangeal crease of fifth finger 32 HP:0006216
32 restrictive ventilatory defect 32 HP:0002091
33 flexion contracture 32 HP:0001371
34 short palm 32 HP:0004279
35 short long bone 32 HP:0003026
36 short foot 32 HP:0001773
37 short toe 32 HP:0001831
38 upslanted palpebral fissure 32 HP:0000582
39 thick upper lip vermilion 32 HP:0000215
40 short phalanx of finger 32 HP:0009803
41 anterior scalloping of vertebral bodies 32 HP:0004580
42 tapered metacarpals 32 HP:0006108
43 tapered phalanx of finger 32 HP:0006192

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:

39
Eye, Bone, 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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