MCID: VRT011
MIFTS: 13

Vertebral Fusion, Posterior Lumbosacral, with Blepharoptosis

Categories: Fetal diseases, Rare diseases

Aliases & Classifications for Vertebral Fusion, Posterior Lumbosacral, with Blepharoptosis

MalaCards integrated aliases for Vertebral Fusion, Posterior Lumbosacral, with Blepharoptosis:

Name: Vertebral Fusion, Posterior Lumbosacral, with Blepharoptosis 56
Posterior Fusion of Lumbosacral Vertebrae-Blepharoptosis Syndrome 58
Vertebral Fusion Posterior Lumbosacral Blepharoptosis 71
Faulk-Epstein-Jones Syndrome 58

Characteristics:

Orphanet epidemiological data:

58
posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
vertebral fusion, posterior lumbosacral, with blepharoptosis:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Developmental anomalies during embryogenesis


External Ids:

OMIM 56 192800
MESH via Orphanet 44 C536344
ICD10 via Orphanet 33 Q87.5
UMLS via Orphanet 72 C1860464
Orphanet 58 ORPHA2064
MedGen 41 C1860464
UMLS 71 C1860464

Summaries for Vertebral Fusion, Posterior Lumbosacral, with Blepharoptosis

MalaCards based summary : Vertebral Fusion, Posterior Lumbosacral, with Blepharoptosis, is also known as posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome. Related phenotypes are ptosis and abnormal form of the vertebral bodies

More information from OMIM: 192800

Related Diseases for Vertebral Fusion, Posterior Lumbosacral, with Blepharoptosis

Symptoms & Phenotypes for Vertebral Fusion, Posterior Lumbosacral, with Blepharoptosis

Human phenotypes related to Vertebral Fusion, Posterior Lumbosacral, with Blepharoptosis:

58 31 (show all 8)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ptosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000508
2 abnormal form of the vertebral bodies 58 31 hallmark (90%) Very frequent (99-80%) HP:0003312
3 posterior fusion of lumbosacral vertebrae 58 31 hallmark (90%) Very frequent (99-80%) HP:0005626
4 joint stiffness 58 31 frequent (33%) Frequent (79-30%) HP:0001387
5 sacral dimple 58 31 frequent (33%) Frequent (79-30%) HP:0000960
6 tarsal synostosis 58 31 frequent (33%) Frequent (79-30%) HP:0008368
7 abnormality of metabolism/homeostasis 31 HP:0001939
8 congenital ptosis 31 HP:0007970

Symptoms via clinical synopsis from OMIM:

56
Radiology:
posterior fusion of lumbosacral vertebrae

Limbs:
tight heel cords

Eyes:
congenital ptosis

Lab:
elevated serum lactic dehydrogenase

Clinical features from OMIM:

192800

Drugs & Therapeutics for Vertebral Fusion, Posterior Lumbosacral, with Blepharoptosis

Search Clinical Trials , NIH Clinical Center for Vertebral Fusion, Posterior Lumbosacral, with Blepharoptosis

Genetic Tests for Vertebral Fusion, Posterior Lumbosacral, with Blepharoptosis

Anatomical Context for Vertebral Fusion, Posterior Lumbosacral, with Blepharoptosis

Publications for Vertebral Fusion, Posterior Lumbosacral, with Blepharoptosis

Articles related to Vertebral Fusion, Posterior Lumbosacral, with Blepharoptosis:

# Title Authors PMID Year
1
Familial posterior lumbosacral vertebral fusion and eyelid ptosis. 56
5443339 1970

Variations for Vertebral Fusion, Posterior Lumbosacral, with Blepharoptosis

Expression for Vertebral Fusion, Posterior Lumbosacral, with Blepharoptosis

Search GEO for disease gene expression data for Vertebral Fusion, Posterior Lumbosacral, with Blepharoptosis.

Pathways for Vertebral Fusion, Posterior Lumbosacral, with Blepharoptosis

GO Terms for Vertebral Fusion, Posterior Lumbosacral, with Blepharoptosis

Sources for Vertebral Fusion, Posterior Lumbosacral, with Blepharoptosis

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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