Sed Congenita malady

Genetic diseases, Rare diseases, Bone diseases, Fetal diseases categories

Aliases & Classifications for Sed Congenita

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46OMIM, 9diseasecard, 64Wikipedia, 42NIH Rare Diseases, 21Genetics Home Reference, 44Novoseek, 8Disease Ontology, 20GeneTests, 10DISEASES, 48Orphanet, 22GTR, 61UMLS, 56SNOMED-CT, 34MESH via Orphanet, 26ICD10 via Orphanet, 62UMLS via Orphanet
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Aliases & Descriptions for Sed Congenita:

Name: Sed Congenita 46 9 64 42 21 44
Spondyloepiphyseal Dysplasia Congenita 46 8 64 42 20 21 10 48 22
Sedc 64 42 21 48
Spondyloepiphyseal Dysplasia, Congenital Type 42 21
Spondyloepiphyseal Dysplasia and Spondyloepimetaphyseal Dysplasia 42
Spondyloepiphyseal Dysplasia Tarda, X-Linked; Sedt 8
Spondyloepiphyseal Dysplasia Tarda, X-Linked 61
Spondyloepiphyseal Dysplasia, Congenita 61
Congenital Spondyloepiphyseal Dysplasia 48
Late Spondyloepiphyseal Dysplasia 8
Spranger-Wiedemann Disease 48
Sed, Congenital Type 21
Sed and Semd 42


Characteristics (Orphanet epidemiological data):

spondyloepiphyseal dysplasia congenita:
Inheritance: Autosomal dominant; Prevalence: 1-9/100000 (Europe)

External Ids:

OMIM46 183900
Disease Ontology8 DOID:14789
Orphanet48 94068
SNOMED-CT56 51952004
MESH via Orphanet34 C535788
ICD10 via Orphanet26 Q77.7
UMLS via Orphanet62 C2745959

Summaries for Sed Congenita

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NIH Rare Diseases:42 Spondyloepiphyseal dysplasia congenita is an inherited disorder of bone growth that affects the bones of the spine and ends of the long bones in the arms and legs. features of this condition include short stature (dwarfism); a very short trunk and neck; abnormal curvature of the spine; barrel-shaped chest; shortened limbs; an abnormality of the hip joint; and problems with vision and hearing. arthritis and decreased joint mobility often develop early in life. more than 175 cases have been reported in the scientific literature. this condition is caused by mutations in the col2a1 gene and is inherited in an autosomal dominant pattern. most cases result from new mutations in the gene and occur in people with no family history of the condition. last updated: 1/11/2012

MalaCards based summary: Sed Congenita, also known as spondyloepiphyseal dysplasia congenita, is related to achondroplasia and pseudoachondroplasia, and has symptoms including platyspondyly, abnormality of the metaphyses and skeletal dysplasia. An important gene associated with Sed Congenita is COL2A1 (collagen, type II, alpha 1). Affiliated tissues include bone and lung.

Genetics Home Reference:21 Spondyloepiphyseal dysplasia congenita is an inherited disorder of bone growth that results in short stature (dwarfism), skeletal abnormalities, and problems with vision and hearing. This condition affects the bones of the spine (spondylo-) and the ends (epiphyses) of long bones in the arms and legs. Congenita indicates that the condition is present from birth.

OMIM:46 Spondyloepiphyseal dysplasia congenita is an autosomal dominant chondrodysplasia characterized by disproportionate... (183900) more...

Wikipedia:64 Spondyloepiphyseal dysplasia congenita (abbreviated to SED more often than SDC) is a rare disorder of... more...

Related Diseases for Sed Congenita

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Graphical network of diseases related to Sed Congenita:

Diseases related to sed congenita

Symptoms for Sed Congenita

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Symptoms by clinical synopsis from OMIM:


Clinical features from OMIM:



 48 (show all 26)
  • short neck
  • narrow rib cage/thorax
  • short rib cage/thorax
  • abnormal vertebral size/shape
  • short limbs/micromelia/brachymelia
  • dysostosis/chondrodysplasia/osteodysplasia/osteochondrosis/skeletal dysplasia
  • epiphyseal anomaly
  • autosomal dominant inheritance
  • short stature/dwarfism/nanism
  • broad forehead
  • flat face
  • hypertelorism
  • cleft palate without cleft lip/submucosal cleft palate/bifid uvula
  • lordosis
  • talipes-varus/metatarsal varus
  • osteoarthritis
  • restricted joint mobility/joint stiffness/ankylosis
  • hip dislocation/dysplasia/coxa valga/coxa vara/coxa plana
  • glaucoma
  • cataract/lens opacification
  • retinal detachment
  • myopia
  • nystagmus
  • hearing loss/hypoacusia/deafness
  • kyphosis
  • scoliosis

HPO human phenotypes related to Sed Congenita:

(show all 60)
id Description Frequency HPO Source Accession
1 platyspondyly hallmark (90%) HP:0000926
2 abnormality of the metaphyses hallmark (90%) HP:0000944
3 skeletal dysplasia hallmark (90%) HP:0002652
4 short stature hallmark (90%) HP:0004322
5 abnormality of the epiphyses hallmark (90%) HP:0005930
6 limb undergrowth hallmark (90%) HP:0009826
7 short thorax hallmark (90%) HP:0010306
8 short neck hallmark (90%) HP:0000470
9 narrow chest hallmark (90%) HP:0000774
10 micromelia hallmark (90%) HP:0002983
11 abnormal form of the vertebral bodies hallmark (90%) HP:0003312
12 cleft palate typical (50%) HP:0000175
13 myopia typical (50%) HP:0000545
14 osteoarthritis typical (50%) HP:0002758
15 abnormality of the hip bone typical (50%) HP:0003272
16 hyperlordosis typical (50%) HP:0003307
17 malar flattening typical (50%) HP:0000272
18 hypertelorism typical (50%) HP:0000316
19 broad forehead typical (50%) HP:0000337
20 limitation of joint mobility typical (50%) HP:0001376
21 talipes typical (50%) HP:0001883
22 hearing impairment occasional (7.5%) HP:0000365
23 glaucoma occasional (7.5%) HP:0000501
24 cataract occasional (7.5%) HP:0000518
25 retinal detachment occasional (7.5%) HP:0000541
26 myopia occasional (7.5%) HP:0000545
27 nystagmus occasional (7.5%) HP:0000639
28 scoliosis occasional (7.5%) HP:0002650
29 kyphosis occasional (7.5%) HP:0002808
30 autosomal dominant inheritance HP:0000006
31 cleft palate HP:0000175
32 malar flattening HP:0000272
33 short neck HP:0000470
34 retinal detachment HP:0000541
35 myopia HP:0000545
36 vitreoretinal degeneration HP:0000655
37 pectus carinatum HP:0000768
38 platyspondyly HP:0000926
39 muscular hypotonia HP:0001252
40 barrel-shaped chest HP:0001552
41 talipes equinovarus HP:0001762
42 restrictive lung disease HP:0002091
43 respiratory distress HP:0002098
44 cervical myelopathy HP:0002318
45 waddling gait HP:0002515
46 scoliosis HP:0002650
47 kyphosis HP:0002808
48 coxa vara HP:0002812
49 hip dislocation HP:0002827
50 lumbar hyperlordosis HP:0002938
51 limited elbow movement HP:0002996
52 flattened epiphyses HP:0003071
53 ovoid vertebral bodies HP:0003300
54 hypoplasia of the odontoid process HP:0003311
55 delayed calcaneal ossification HP:0008142
56 delayed pubic bone ossification HP:0008788
57 limited hip movement HP:0008800
58 neonatal short-trunk short stature HP:0008857
59 limitation of knee mobility HP:0010501
60 flat face HP:0012368

Drugs & Therapeutics for Sed Congenita

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Drug clinical trials:

Search ClinicalTrials for Sed Congenita

Search NIH Clinical Center for Sed Congenita

Genetic Tests for Sed Congenita

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Genetic tests related to Sed Congenita:

id Genetic test Affiliating Genes
1 Spondyloepiphyseal Dysplasia Congenita20 22 COL2A1

Anatomical Context for Sed Congenita

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MalaCards organs/tissues related to Sed Congenita:

Bone, Lung

Animal Models for Sed Congenita or affiliated genes

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Publications for Sed Congenita

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Variations for Sed Congenita

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UniProtKB/Swiss-Prot genetic disease variations for Sed Congenita:

id Symbol AA change Variation ID SNP ID

Clinvar genetic disease variations for Sed Congenita:

id Gene Variation Type Significance SNP ID Assembly Location
1COL2A1COL2A1, 390-BP DELdeletionPathogenic
2COL2A1COL2A1, 45-BP DUP, EX48duplicationPathogenic
3COL2A1NM_001844.4(COL2A1): c.3589G> A (p.Gly1197Ser)single nucleotide variantPathogenicrs121912870GRCh37Chr 12, 48369754: 48369754
4COL2A1NM_001844.4(COL2A1): c.2965C> T (p.Arg989Cys)single nucleotide variantPathogenicrs121912874GRCh37Chr 12, 48372112: 48372112
5COL2A1NM_001844.4(COL2A1): c.3517G> C (p.Gly1173Arg)single nucleotide variantPathogenicrs121912883GRCh37Chr 12, 48369826: 48369826
6COL2A1NM_001844.4(COL2A1): c.4316C> T (p.Thr1439Met)single nucleotide variantPathogenicrs121912886GRCh37Chr 12, 48367873: 48367873

Expression for genes affiliated with Sed Congenita

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Search GEO for disease gene expression data for Sed Congenita.

Pathways for genes affiliated with Sed Congenita

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Compounds for genes affiliated with Sed Congenita

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GO Terms for genes affiliated with Sed Congenita

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Sources for Sed Congenita

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26ICD10 via Orphanet
34MESH via Orphanet
47OMIM via Orphanet
57SNOMED-CT via Orphanet
62UMLS via Orphanet