MCID: LMB009
MIFTS: 20

Lambdoid Synostosis

Categories: Rare diseases

Aliases & Classifications for Lambdoid Synostosis

MalaCards integrated aliases for Lambdoid Synostosis:

Name: Lambdoid Synostosis 53
Lambdoidal Craniosynostosis 29 6
Synostotic Posterior Plagiocephaly 73
Craniosynostosis, Lambdoidal 53

Classifications:



External Ids:

UMLS 73 C1833340

Summaries for Lambdoid Synostosis

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 3267Disease definitionFamilial lambdoid synostosis is a rare, genetic cranial malformation characterized by unilateral or bilateral synostosis of the lambdoid suture in multiple members of a single family. Unilateral cases typically present ipsilateral occipitomastoid bulge, compensatory contralateral parietal and frontal bossing, displacement of one ear, lateral deviation of jaw and compensatory deformation of cervical spine while bilateral cases usually manifest with flat and widened occiput, displacement of both ears and frequent occurrence of raised intracranial pressure.Visit the Orphanet disease page for more resources.

MalaCards based summary : Lambdoid Synostosis, also known as lambdoidal craniosynostosis, is related to craniosynostosis 4 and synostosis. An important gene associated with Lambdoid Synostosis is ERF (ETS2 Repressor Factor). Affiliated tissues include brain and bone, and related phenotype is craniofacial.

Related Diseases for Lambdoid Synostosis

Diseases related to Lambdoid Synostosis via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 craniosynostosis 4 11.3
2 synostosis 11.0
3 plagiocephaly 10.6
4 craniosynostosis 10.2
5 humeroradioulnar synostosis 10.2
6 basal cell nevus syndrome 10.1

Graphical network of the top 20 diseases related to Lambdoid Synostosis:



Diseases related to Lambdoid Synostosis

Symptoms & Phenotypes for Lambdoid Synostosis

MGI Mouse Phenotypes related to Lambdoid Synostosis:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 8.62 ERF MAP2K2

Drugs & Therapeutics for Lambdoid Synostosis

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 MRI for Non-invasive Evaluation of Brain Stress Completed NCT01898650 Not Applicable

Search NIH Clinical Center for Lambdoid Synostosis

Genetic Tests for Lambdoid Synostosis

Genetic tests related to Lambdoid Synostosis:

# Genetic test Affiliating Genes
1 Lambdoidal Craniosynostosis 29 ERF

Anatomical Context for Lambdoid Synostosis

MalaCards organs/tissues related to Lambdoid Synostosis:

41
Brain, Bone

Publications for Lambdoid Synostosis

Articles related to Lambdoid Synostosis:

(show all 38)
# Title Authors Year
1
Treated Unilateral Lambdoid Synostosis Using Cranium Distraction Osteogenesis With Z-shaped Osteotomy. ( 28059851 )
2017
2
Surgical correction of lambdoid synostosis - New technique and first results. ( 27595190 )
2016
3
Concurrent occurrence of an inherited 16p13.11 microduplication and a de novo 19p13.3 microdeletion involving MAP2K2 in a patient with developmental delay, distinctive facial features, and lambdoid synostosis. ( 27751966 )
2016
4
Lambdoid Synostosis Versus Positional Posterior Plagiocephaly, a Comparison of Skull Base and Shape of Calvarium Using Computed Tomography Imaging. ( 26335322 )
2015
5
Occipital plagiocephaly: unilateral lambdoid synostosis versus positional plagiocephaly. ( 25275089 )
2015
6
Surgical correction for unilateral lambdoid synostosis: a systematic review. ( 24978452 )
2014
7
Clinical and imaging findings in children with non-syndromic lambdoid synostosis. ( 24162514 )
2013
8
Does conventional posterior vault remodeling alter endocranial morphology in patients with true lambdoid synostosis? ( 23348266 )
2013
9
Suitable indication for the application of distraction osteogenesis: occipital enlargement for lambdoid synostosis. ( 24036720 )
2013
10
Craniosynostosis: posterior two-third cranial vault reconstruction using bioresorbable plates and a PDS suture lattice in sagittal and lambdoid synostosis. ( 22872255 )
2012
11
Lambdoid synostosis and craniofacial dysmorphism with normal intellect: A novel syndrome? ( 21204239 )
2011
12
Analysis of differences in the cranial base and facial skeleton of patients with lambdoid synostosis and deformational plagiocephaly. ( 20871483 )
2011
13
The variable position of the ear in lambdoid synostosis. ( 20948412 )
2011
14
Forward position of the ear in a patient with true lambdoid synostosis. ( 20124803 )
2010
15
Comparison of computed tomographic imaging measurements with clinical findings in children with unilateral lambdoid synostosis. ( 19116566 )
2009
16
Regarding true lambdoid synostosis: long-term results of surgical and conservative therapy. ( 18626400 )
2008
17
Treatment of unilateral lambdoid synostosis with cranial distraction. ( 15213539 )
2004
18
Preliminary results of standardized occipital advancement in the treatment of lambdoid synostosis. ( 12425988 )
2002
19
Update on craniofacial surgery: the differential diagnosis of lambdoid synostosis/posterior plagiocephaly. ( 11197708 )
2000
20
Obstetrical factors governing the etiopathogenesis of lambdoid synostosis. ( 9643631 )
1998
21
Unilateral lambdoid synostosis: morphological characteristics. ( 9693555 )
1998
22
Lambdoid synostosis and occipital plagiocephaly: clinical decision rules for surgical intervention. ( 15096021 )
1997
23
Occipital plagiocephaly: deformation or lambdoid synostosis? II. A unifying theory regarding pathogenesis. ( 8841076 )
1996
24
Lambdoid synostosis is an overdiagnosed condition. ( 8741932 )
1996
25
The differential diagnosis of posterior plagiocephaly: true lambdoid synostosis versus positional molding. ( 8823012 )
1996
26
Occipital plagiocephaly: deformation or lambdoid synostosis? I. Morphometric analysis and results of unilateral lambdoid craniectomy. ( 8841075 )
1996
27
Recurrent lambdoid synostosis within two families. ( 8533829 )
1995
28
Lambdoid synostosis. ( 7813157 )
1994
29
Humeroradioulnar synostosis in a patient with lambdoid synostosis. ( 8380873 )
1993
30
Surgical correction of unilateral lambdoid synostosis: occipital rotation flap. ( 1391241 )
1992
31
Radiological case of the month. Sagittal and lambdoidal craniosynostosis. ( 1415068 )
1992
32
Treatment of functional lambdoid synostosis. ( 1821312 )
1991
33
The deformed petrous bone: a new plain film sign of premature lambdoid synostosis. ( 2028870 )
1991
34
Lambdoid synostosis: surgical considerations. ( 3375348 )
1988
35
Cranial asymmetry and lambdoid synostosis in a sibship. ( 4010909 )
1985
36
Lambdoid synostosis. Part 1. The lambdoid suture: normal development and pathology of "synostosis". ( 6737058 )
1984
37
Lambdoid synostosis. Part 2: Review of cases managed at The Hospital for Sick Children, 1972-1982. ( 6737059 )
1984
38
Bilateral coronal and right lambdoidal craniosynostosis. Case report and review of the literature. ( 5804093 )
1969

Variations for Lambdoid Synostosis

ClinVar genetic disease variations for Lambdoid Synostosis:

6 (show all 16)
# Gene Variation Type Significance SNP ID Assembly Location
1 ERF NM_006494.3(ERF): c.547C> T (p.Arg183Ter) single nucleotide variant Pathogenic rs587777006 GRCh37 Chromosome 19, 42753717: 42753717
2 ERF NM_006494.3(ERF): c.547C> T (p.Arg183Ter) single nucleotide variant Pathogenic rs587777006 GRCh38 Chromosome 19, 42249565: 42249565
3 ERF NM_006494.3(ERF): c.891_892delAG (p.Gly299Argfs) deletion Pathogenic rs587777007 GRCh37 Chromosome 19, 42753372: 42753373
4 ERF NM_006494.3(ERF): c.891_892delAG (p.Gly299Argfs) deletion Pathogenic rs587777007 GRCh38 Chromosome 19, 42249220: 42249221
5 ERF NM_006494.3(ERF): c.256C> T (p.Arg86Cys) single nucleotide variant Pathogenic rs587777008 GRCh37 Chromosome 19, 42754484: 42754484
6 ERF NM_006494.3(ERF): c.256C> T (p.Arg86Cys) single nucleotide variant Pathogenic rs587777008 GRCh38 Chromosome 19, 42250332: 42250332
7 ERF NM_006494.3(ERF): c.194G> A (p.Arg65Gln) single nucleotide variant Pathogenic rs587777009 GRCh37 Chromosome 19, 42754546: 42754546
8 ERF NM_006494.3(ERF): c.194G> A (p.Arg65Gln) single nucleotide variant Pathogenic rs587777009 GRCh38 Chromosome 19, 42250394: 42250394
9 ERF NM_006494.3(ERF): c.1270C> T (p.Gln424Ter) single nucleotide variant Pathogenic rs587777010 GRCh37 Chromosome 19, 42752994: 42752994
10 ERF NM_006494.3(ERF): c.1270C> T (p.Gln424Ter) single nucleotide variant Pathogenic rs587777010 GRCh38 Chromosome 19, 42248842: 42248842
11 MYH7 NM_000257.3(MYH7): c.3667G> A (p.Glu1223Lys) single nucleotide variant Uncertain significance rs794727410 GRCh37 Chromosome 14, 23889113: 23889113
12 MYH7 NM_000257.3(MYH7): c.3667G> A (p.Glu1223Lys) single nucleotide variant Uncertain significance rs794727410 GRCh38 Chromosome 14, 23419904: 23419904
13 ERF NM_006494.3(ERF): c.23_257del235 single nucleotide variant Pathogenic rs864321680 GRCh37 Chromosome 19, 42754719: 42754719
14 ERF NM_006494.3(ERF): c.23_257del235 single nucleotide variant Pathogenic rs864321680 GRCh38 Chromosome 19, 42250567: 42250567
15 ERF NM_006494.3(ERF): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic rs864321681 GRCh37 Chromosome 19, 42759151: 42759151
16 ERF NM_006494.3(ERF): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic rs864321681 GRCh38 Chromosome 19, 42254999: 42254999

Expression for Lambdoid Synostosis

Search GEO for disease gene expression data for Lambdoid Synostosis.

Pathways for Lambdoid Synostosis

GO Terms for Lambdoid Synostosis

Sources for Lambdoid Synostosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....