Spondyloepiphyseal Dysplasia-Brachydactyly and Distinctive Speech disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: SPN141 MIFTS: 20	Spondyloepiphyseal Dysplasia-Brachydactyly and Distinctive Speech Categories: Bone diseases, Fetal diseases, Rare diseases
Tissues Symptoms & Phenotypes Expand all tables

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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 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:

MalaCards categories:
Global: Rare diseases Fetal diseases
Anatomical: Bone diseases

See all MalaCards categories (disease lists)

ICD10: ³⁵

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations and deformations of the musculoskeletal system

Osteochondrodysplasia with defects of growth of tubular bones and spine

Spondyloepiphyseal dysplasia

Orphanet: ⁶⁰

Rare bone diseases

Developmental anomalies during embryogenesis

External Ids:

OMIM ⁵⁸ 611717

ICD10 via Orphanet ³⁵ Q77.7

UMLS via Orphanet ⁷⁵ C2673649

Orphanet ⁶⁰ ORPHA163654

MedGen ⁴³ C2673649

UMLS ⁷⁴ C2673649

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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

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

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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

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

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

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

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

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

⁴²

Bone, Eye

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Publications for Spondyloepiphyseal Dysplasia-Brachydactyly and Distinctive...

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Genes for Spondyloepiphyseal Dysplasia-Brachydactyly and Distinctive...

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Variations for Spondyloepiphyseal Dysplasia-Brachydactyly and Distinctive...

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Expression for Spondyloepiphyseal Dysplasia-Brachydactyly and Distinctive...

Search GEO for disease gene expression data for Spondyloepiphyseal Dysplasia-Brachydactyly and Distinctive Speech.

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Pathways for Spondyloepiphyseal Dysplasia-Brachydactyly and Distinctive...

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GO Terms for Spondyloepiphyseal Dysplasia-Brachydactyly and Distinctive...

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Sources for Spondyloepiphyseal Dysplasia-Brachydactyly and Distinctive...

¹ BioSystems

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⁷² TGDB

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⁷⁶ UniProtKB/Swiss-Prot

⁷⁷ Wikipedia