MCID: SPN346
MIFTS: 15

Spondyloepiphyseal Dysplasia with Atlantoaxial Instability

Categories: Bone diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Spondyloepiphyseal Dysplasia with Atlantoaxial Instability

MalaCards integrated aliases for Spondyloepiphyseal Dysplasia with Atlantoaxial Instability:

Name: Spondyloepiphyseal Dysplasia with Atlantoaxial Instability 56
Spondyloepiphyseal Dysplasia, Reardon Type 58

Characteristics:

Orphanet epidemiological data:

58
spondyloepiphyseal dysplasia, reardon type
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
spondyloepiphyseal dysplasia with atlantoaxial instability:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


Summaries for Spondyloepiphyseal Dysplasia with Atlantoaxial Instability

MalaCards based summary : Spondyloepiphyseal Dysplasia with Atlantoaxial Instability, is also known as spondyloepiphyseal dysplasia, reardon type. Affiliated tissues include bone and tongue, and related phenotypes are delayed skeletal maturation and short stature

More information from OMIM: 600561

Related Diseases for Spondyloepiphyseal Dysplasia with Atlantoaxial Instability

Symptoms & Phenotypes for Spondyloepiphyseal Dysplasia with Atlantoaxial Instability

Human phenotypes related to Spondyloepiphyseal Dysplasia with Atlantoaxial Instability:

31 (show all 20)
# Description HPO Frequency HPO Source Accession
1 delayed skeletal maturation 31 HP:0002750
2 short stature 31 HP:0004322
3 tongue fasciculations 31 HP:0001308
4 hand muscle atrophy 31 HP:0009130
5 joint laxity 31 HP:0001388
6 respiratory failure 31 HP:0002878
7 limb muscle weakness 31 HP:0003690
8 brisk reflexes 31 HP:0001348
9 ankle clonus 31 HP:0011448
10 hemiparesis 31 HP:0001269
11 bulbar palsy 31 HP:0001283
12 tetraparesis 31 HP:0002273
13 lumbar hyperlordosis 31 HP:0002938
14 atlantoaxial dislocation 31 HP:0003414
15 spondyloepiphyseal dysplasia 31 HP:0002655
16 atlantoaxial instability 31 HP:0003467
17 hypoplasia of the capital femoral epiphysis 31 HP:0003090
18 spondylolysis 31 HP:0003304
19 spondylolisthesis at l5-s1 31 HP:0008489
20 os odontoideum 31 HP:0005667

Symptoms via clinical synopsis from OMIM:

56
Growth Height:
short stature

Skeletal Spine:
lumbar lordosis
irregular vertebral end plates
atlanto-axial subluxation
os odontoideum and atlanto-axial instability
spondylolysis and spondylolisthesis of l5

Skeletal Limbs:
small femoral capital epiphyses

Skeletal Pelvis:
flat femoral head with subluxation and sloping acetabulum

Neurologic Peripheral Nervous System:
tongue fasciculations
brisk reflexes
hemiparesis
bulbar palsy
quadriparesis
more
Skeletal:
delayed bone maturation
mild joint laxity

Respiratory:
progressive breathing difficulty

Muscle Soft Tissue:
hand muscle wasting

Clinical features from OMIM:

600561

Drugs & Therapeutics for Spondyloepiphyseal Dysplasia with Atlantoaxial Instability

Search Clinical Trials , NIH Clinical Center for Spondyloepiphyseal Dysplasia with Atlantoaxial Instability

Genetic Tests for Spondyloepiphyseal Dysplasia with Atlantoaxial Instability

Anatomical Context for Spondyloepiphyseal Dysplasia with Atlantoaxial Instability

MalaCards organs/tissues related to Spondyloepiphyseal Dysplasia with Atlantoaxial Instability:

40
Bone, Tongue

Publications for Spondyloepiphyseal Dysplasia with Atlantoaxial Instability

Articles related to Spondyloepiphyseal Dysplasia with Atlantoaxial Instability:

# Title Authors PMID Year
1
New autosomal dominant form of spondyloepiphyseal dysplasia presenting with atlanto-axial instability. 56
7747755 1994

Variations for Spondyloepiphyseal Dysplasia with Atlantoaxial Instability

Expression for Spondyloepiphyseal Dysplasia with Atlantoaxial Instability

Search GEO for disease gene expression data for Spondyloepiphyseal Dysplasia with Atlantoaxial Instability.

Pathways for Spondyloepiphyseal Dysplasia with Atlantoaxial Instability

GO Terms for Spondyloepiphyseal Dysplasia with Atlantoaxial Instability

Sources for Spondyloepiphyseal Dysplasia with Atlantoaxial Instability

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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