MCID: SPN345
MIFTS: 14

Spondyloepiphyseal Dysplasia, Myopia, and Sensorineural Deafness

Categories: Bone diseases, Ear diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Spondyloepiphyseal Dysplasia, Myopia, and Sensorineural Deafness

MalaCards integrated aliases for Spondyloepiphyseal Dysplasia, Myopia, and Sensorineural Deafness:

Name: Spondyloepiphyseal Dysplasia, Myopia, and Sensorineural Deafness 57
Spondyloepiphyseal Dysplasia-Myopia-Sensorineural Hearing Loss Syndrome 58
Spondyloepiphyseal Dysplasia-Myopia-Sensorineural Deafness Syndrome 58
Spondyloepiphyseal Dysplasia, Macdermot Type 58

Characteristics:

Orphanet epidemiological data:

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

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

Miscellaneous:
based on four patients in a four generation family


HPO:

31
spondyloepiphyseal dysplasia, myopia, and sensorineural deafness:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare otorhinolaryngological diseases
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM® 57 184000
ICD10 via Orphanet 33 Q77.7
UMLS via Orphanet 71 C1866719
Orphanet 58 ORPHA163668
MedGen 41 C1866719

Summaries for Spondyloepiphyseal Dysplasia, Myopia, and Sensorineural Deafness

MalaCards based summary : Spondyloepiphyseal Dysplasia, Myopia, and Sensorineural Deafness, is also known as spondyloepiphyseal dysplasia-myopia-sensorineural hearing loss syndrome. Related phenotypes are blue sclerae and short neck

More information from OMIM: 184000

Related Diseases for Spondyloepiphyseal Dysplasia, Myopia, and Sensorineural Deafness

Symptoms & Phenotypes for Spondyloepiphyseal Dysplasia, Myopia, and Sensorineural Deafness

Human phenotypes related to Spondyloepiphyseal Dysplasia, Myopia, and Sensorineural Deafness:

31 (show all 15)
# Description HPO Frequency HPO Source Accession
1 blue sclerae 31 occasional (7.5%) HP:0000592
2 short neck 31 HP:0000470
3 pes planus 31 HP:0001763
4 sensorineural hearing impairment 31 HP:0000407
5 short stature 31 HP:0004322
6 epiphyseal dysplasia 31 HP:0002656
7 myopia 31 HP:0000545
8 waddling gait 31 HP:0002515
9 retinal detachment 31 HP:0000541
10 platyspondyly 31 HP:0000926
11 flattened femoral head 31 HP:0008812
12 clinodactyly 31 HP:0030084
13 hypoplasia of the capital femoral epiphysis 31 HP:0003090
14 lumbar hyperlordosis 31 HP:0002938
15 spondyloepiphyseal dysplasia 31 HP:0002655

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Neck:
short neck

Growth Height:
short stature

Skeletal Spine:
platyspondyly
lumbar lordosis, mild

Head And Neck Ears:
sensorineural deafness

Skeletal Feet:
pes planus
prominent heel

Skeletal Pelvis:
waddling gait
sloping acetabula
flattened femoral heads
small capital femoral epiphyses

Skeletal Hands:
clinodactyly

Head And Neck Eyes:
myopia (onset in teens)
retinal detachment (in 1 patient)
bluish sclerae (in 1 patient)

Clinical features from OMIM®:

184000 (Updated 05-Apr-2021)

Drugs & Therapeutics for Spondyloepiphyseal Dysplasia, Myopia, and Sensorineural Deafness

Search Clinical Trials , NIH Clinical Center for Spondyloepiphyseal Dysplasia, Myopia, and Sensorineural Deafness

Genetic Tests for Spondyloepiphyseal Dysplasia, Myopia, and Sensorineural Deafness

Anatomical Context for Spondyloepiphyseal Dysplasia, Myopia, and Sensorineural Deafness

Publications for Spondyloepiphyseal Dysplasia, Myopia, and Sensorineural Deafness

Articles related to Spondyloepiphyseal Dysplasia, Myopia, and Sensorineural Deafness:

# Title Authors PMID Year
1
Epiphyseal dysplasia of the femoral head, mild vertebral abnormality, myopia, and sensorineural deafness: report of a pedigree with autosomal dominant inheritance. 57
3681905 1987

Variations for Spondyloepiphyseal Dysplasia, Myopia, and Sensorineural Deafness

Expression for Spondyloepiphyseal Dysplasia, Myopia, and Sensorineural Deafness

Search GEO for disease gene expression data for Spondyloepiphyseal Dysplasia, Myopia, and Sensorineural Deafness.

Pathways for Spondyloepiphyseal Dysplasia, Myopia, and Sensorineural Deafness

GO Terms for Spondyloepiphyseal Dysplasia, Myopia, and Sensorineural Deafness

Sources for Spondyloepiphyseal Dysplasia, Myopia, and Sensorineural Deafness

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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