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

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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 ⁵⁷ ¹¹ ¹⁹ ⁴³ ⁷¹

Sed-Bds ⁵⁷ ¹¹ ¹⁹ ⁵⁸

Fantasy Island Syndrome ⁵⁷ ¹¹ ¹⁹

Tattoo Dysplasia ¹¹ ¹⁹ ⁵⁸

Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome ⁵⁸

Sed-Brachydactyly and Distinctive Speech ¹¹

Spondyloepiphyseal Dysplasia, Cantu Type ¹¹

Tatoo Dysplasia ⁵⁷

Characteristics:

Inheritance:

Autosomal dominant ⁵⁷

Prevelance:

Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome: <1/1000000 (Worldwide) ⁵⁸

Age Of Onset:

Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome: Infancy,Neonatal ⁵⁸

Classifications:

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

See all MalaCards categories (disease lists)

ICD10: ³²

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:

Disease Ontology ¹¹ DOID:0112287

OMIM® ⁵⁷ 611717

MeSH ⁴³ C567128

SNOMED-CT ⁶⁸ 718765003

ICD10 via Orphanet ³² Q77.7

UMLS via Orphanet ⁷² C2673649

Orphanet ⁵⁸ ORPHA163654

MedGen ⁴⁰ C2673649

UMLS ⁷¹ C2673649

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Summaries for Spondyloepiphyseal Dysplasia-Brachydactyly and Distinctive...

GARD: ¹⁹ 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).

MalaCards based summary: Spondyloepiphyseal Dysplasia-Brachydactyly and Distinctive Speech, also known as sed-bds, is related to spondyloepiphyseal dysplasia with congenital joint dislocations and brachydactyly. Affiliated tissues include bone and lung, and related phenotypes are short neck and delayed skeletal maturation

Orphanet: ⁵⁸ 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).

Disease Ontology: ¹¹ A spondyloepiphyseal dysplasia characterized by spondyloepiphyseal dysplasia, brachydactyly, and distinctive speech.

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	spondyloepiphyseal dysplasia with congenital joint dislocations	10.3
2	brachydactyly	10.3
3	acromicric dysplasia	10.0
4	contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a	10.0
5	blepharophimosis	10.0
6	osteochondrodysplasia	10.0

Graphical network of the top 20 diseases related to Spondyloepiphyseal Dysplasia-Brachydactyly and Distinctive Speech:

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

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

⁵⁸ ³⁰ (show top 50) (show all 64)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	short neck ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0000470
2	delayed skeletal maturation ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0002750
3	depressed nasal bridge ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0005280
4	wide nasal bridge ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0000431
5	microtia ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0008551
6	anteverted nares ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0000463
7	thick eyebrow ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0000574
8	thick lower lip vermilion ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0000179
9	short thorax ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0010306
10	enlarged thorax ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0100625
11	cryptorchidism ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0000028
12	cubitus valgus ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0002967
13	broad neck ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0000475
14	low posterior hairline ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0002162
15	pectus excavatum ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0000767
16	upslanted palpebral fissure ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0000582
17	brachydactyly ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0001156
18	long philtrum ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0000343
19	abnormality of the voice ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0001608
20	wide mouth ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0000154
21	blepharophimosis ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0000581
22	nail dysplasia ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0002164
23	curly eyelashes ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0007665
24	abnormal palate morphology ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0000174
25	thick upper lip vermilion ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0000215
26	broad long bones ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0005622
27	short long bone ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0003026
28	cuboid-shaped vertebral bodies ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0004634
29	hypoplastic pelvis ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0008839
30	curly hair ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0002212
31	facial hirsutism ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0009937
32	limited pronation/supination of forearm ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0006394
33	abnormality of the chin ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0000306
34	abnormal metatarsal morphology ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0001832
35	rhizo-meso-acromelic limb shortening ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0005069
36	multiple rows of eyelashes ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0008496
37	narrow philtrum ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0011829
38	coarse facial features ³⁰			HP:0000280
39	short stature ⁵⁸		Frequent (79-30%)
40	flexion contracture ³⁰			HP:0001371
41	postnatal growth retardation ³⁰			HP:0008897
42	short toe ³⁰			HP:0001831
43	platyspondyly ³⁰			HP:0000926
44	malar flattening ³⁰			HP:0000272
45	hoarse voice ³⁰			HP:0001609
46	round face ³⁰			HP:0000311
47	high pitched voice ³⁰			HP:0001620
48	midface retrusion ³⁰			HP:0011800
49	short metacarpal ³⁰			HP:0010049
50	short foot ³⁰			HP:0001773

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 08-Dec-2022)

Head And Neck Neck:
short neck
wide neck

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

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

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

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

Chest Ribs Sternum Clavicles And Scapulae:
pectus excavatum
thickened clavicles

Skeletal Feet:
brachydactyly
short feet
brachymetatarsals

Head And Neck Eyes:
blepharophimosis
curly eyelashes
upslanting palpebral fissures
curly eyebrows

Skeletal:
spondyloepiphyseal dysplasia
small epiphyses
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 (Updated 08-Dec-2022)

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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

Cochrane evidence based reviews: 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...

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

MalaCards : Bone, 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. ⁶² ⁵⁷	Garcia-Cruz D...Cantu JM	17515304	2007
2	[The "Fantasy Island" syndrome. Identification of a new osteochondrodysplasia probably of autosomal dominant type]. ⁶² ⁵⁷	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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MCID: SPN141 MIFTS: 25	Spondyloepiphyseal Dysplasia-Brachydactyly and Distinctive Speech Categories: Bone diseases, Eye diseases, Fetal diseases, Rare diseases	Data Licensing For inquiries, contact: [email protected]
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