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

MCID: SPN141 MIFTS: 23	Spondyloepiphyseal Dysplasia-Brachydactyly and Distinctive Speech Categories: Bone diseases, Fetal diseases, Rare diseases
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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 ⁵⁶ ⁵² ⁷¹

Sed-Bds ⁵⁶ ⁵² ⁵⁸

Fantasy Island Syndrome ⁵⁶ ⁵²

Tattoo Dysplasia ⁵² ⁵⁸

Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome ⁵⁸

Spondyloepiphyseal Dysplasia, Cantu Type ⁵⁸

Tatoo Dysplasia ⁵⁶

Characteristics:

Orphanet epidemiological data:

⁵⁸

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

OMIM:

⁵⁶

Inheritance:
autosomal dominant

HPO:

³¹

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: ³³

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: ⁵⁸

Rare bone diseases

Developmental anomalies during embryogenesis

External Ids:

OMIM ⁵⁶ 611717

ICD10 via Orphanet ³³ Q77.7

UMLS via Orphanet ⁷² C2673649

Orphanet ⁵⁸ ORPHA163654

MedGen ⁴¹ C2673649

UMLS ⁷¹ C2673649

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Summaries for Spondyloepiphyseal Dysplasia-Brachydactyly and Distinctive...

NIH Rare Diseases : ⁵² The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 163654 Definition Spondyloepiphyseal 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, also known as sed-bds, is related to acromicric dysplasia and odontochondrodysplasia. Affiliated tissues include bone, eye and lung, and related phenotypes are short neck and pectus excavatum

More information from OMIM: 611717

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

Diseases related to Spondyloepiphyseal Dysplasia-Brachydactyly and Distinctive Speech via text searches within MalaCards or GeneCards Suite gene sharing:

#	Related Disease	Score
1	acromicric dysplasia	9.9
2	odontochondrodysplasia	9.9
3	blepharophimosis	9.9
4	dwarfism	9.9

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

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

⁵⁸ ³¹ (show top 50) (show all 65)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	short neck ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000470
2	pectus excavatum ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000767
3	delayed skeletal maturation ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0002750
4	depressed nasal bridge ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0005280
5	wide nasal bridge ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000431
6	microtia ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0008551
7	brachydactyly ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0001156
8	cryptorchidism ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000028
9	anteverted nares ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000463
10	thick eyebrow ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000574
11	long philtrum ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000343
12	thick lower lip vermilion ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000179
13	short long bone ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0003026
14	short thorax ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0010306
15	enlarged thorax ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0100625
16	cubitus valgus ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0002967
17	broad neck ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000475
18	low posterior hairline ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0002162
19	wide mouth ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000154
20	upslanted palpebral fissure ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000582
21	abnormality of the voice ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0001608
22	blepharophimosis ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000581
23	abnormal palate morphology ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000174
24	thick upper lip vermilion ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000215
25	abnormality of the chin ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000306
26	nail dysplasia ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0002164
27	curly hair ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0002212
28	cuboid-shaped vertebral bodies ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0004634
29	rhizo-meso-acromelic limb shortening ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0005069
30	broad long bones ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0005622
31	limited pronation/supination of forearm ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0006394
32	curly eyelashes ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0007665
33	multiple rows of eyelashes ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0008496
34	hypoplastic pelvis ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0008839
35	facial hirsutism ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0009937
36	narrow philtrum ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0011829
37	abnormal metatarsal morphology ³¹	frequent (33%)		HP:0001832
38	malar flattening ³¹			HP:0000272
39	coarse facial features ³¹			HP:0000280
40	short stature ⁵⁸		Frequent (79-30%)
41	short metacarpal ³¹			HP:0010049
42	flexion contracture ³¹			HP:0001371
43	midface retrusion ³¹			HP:0011800
44	platyspondyly ³¹			HP:0000926
45	short palm ³¹			HP:0004279
46	carpal bone hypoplasia ³¹			HP:0001498
47	short foot ³¹			HP:0001773
48	restrictive ventilatory defect ³¹			HP:0002091
49	postnatal growth retardation ³¹			HP:0008897
50	short toe ³¹			HP:0001831

Symptoms via clinical synopsis from OMIM:

⁵⁶

Head And Neck Neck:
short neck
wide neck

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

Skeletal Feet:
brachydactyly
short feet
brachymetatarsals

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

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

Skeletal Hands:
brachydactyly
single interphalangeal crease of fifth finger
short hands
small carpals
short, tapered phalanges
more

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

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:

⁴⁰

Bone, Eye, Lung

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Publications for Spondyloepiphyseal Dysplasia-Brachydactyly and Distinctive...

Articles related to Spondyloepiphyseal Dysplasia-Brachydactyly and Distinctive Speech:

#	Title	Authors	PMID	Year
1	SED-brachydactyly and distinctive speech: report of two new cases. ⁶¹ ⁵⁶	Garcia-Cruz D...Cantu JM	17515304	2007
2	[The "Fantasy Island" syndrome. Identification of a new osteochondrodysplasia probably of autosomal dominant type]. ⁵⁶	Cantu JM	7493737	1995

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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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