MCID: LMB009
MIFTS: 19

Lambdoid Synostosis

Categories: Rare diseases

Aliases & Classifications for Lambdoid Synostosis

MalaCards integrated aliases for Lambdoid Synostosis:

Name: Lambdoid Synostosis 20 6
Synostotic Posterior Plagiocephaly 71
Craniosynostosis, Lambdoidal 20

Classifications:



External Ids:

UMLS 71 C1833340

Summaries for Lambdoid Synostosis

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 3267DefinitionFamilial 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 synostotic posterior plagiocephaly, is related to craniosynostosis 4 and synostosis. An important gene associated with Lambdoid Synostosis is ERF (ETS2 Repressor Factor). Related phenotype is craniofacial.

Related Diseases for Lambdoid Synostosis

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

(show all 11)
# Related Disease Score Top Affiliating Genes
1 craniosynostosis 4 11.2
2 synostosis 10.8
3 plagiocephaly 10.7
4 craniosynostosis 10.6
5 isolated plagiocephaly 10.2
6 torticollis 10.1
7 sudden infant death syndrome 10.1
8 scoliosis 10.1
9 hydrocephalus 10.1
10 humeroradioulnar synostosis 10.1
11 syndromic craniosynostosis 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

Search NIH Clinical Center for Lambdoid Synostosis

Genetic Tests for Lambdoid Synostosis

Anatomical Context for Lambdoid Synostosis

Publications for Lambdoid Synostosis

Articles related to Lambdoid Synostosis:

(show top 50) (show all 103)
# Title Authors PMID Year
1
Heterozygous mutations in ERF cause syndromic craniosynostosis with multiple suture involvement. 6
26097063 2015
2
Reduced dosage of ERF causes complex craniosynostosis in humans and mice and links ERK1/2 signaling to regulation of osteogenesis. 6
23354439 2013
3
Synostosis of the lambdoid suture: a spectrum. 61
33404727 2021
4
Unexpected role of SIX1 variants in craniosynostosis: expanding the phenotype of SIX1-related disorders. 61
33436522 2021
5
Distinguishing Craniomorphometric Characteristics of Unilateral Lambdoid Craniosynostosis. 61
33156173 2021
6
A Novel Sand Dollar and Staves Technique for Unilateral Lambdoid Craniosynostosis. 61
32796305 2021
7
Isolated Frontosphenoidal Craniosynostosis: The Alder Hey Experience and a Novel Algorithm to Aid Diagnosis. 61
33055560 2021
8
Endoscopic Spring-Mediated Distraction for Unilambdoid Craniosynostosis. 61
32804827 2020
9
Cortical Thickness in Crouzon-Pfeiffer Syndrome: Findings in Relation to Primary Cranial Vault Expansion. 61
33173703 2020
10
Posterior calvarial distraction for complex craniosynostosis and cerebellar tonsillar herniation. 61
32650306 2020
11
Three-Dimensional Volumetric Changes in Posterior Vault Distraction With Distraction Osteogenesis. 61
32282486 2020
12
Comparison of Black Bone MRI and 3D-CT in the preoperative evaluation of patients with craniosynostosis. 61
31917189 2020
13
Comparative analysis of cranial vault remodeling versus endoscopic suturectomy in the treatment of unilateral lambdoid craniosynostosis. 61
32302983 2020
14
Isolated Lambdoid Craniosynostosis. 61
31633668 2019
15
Can Head Circumference Be Used as a Proxy for Intracranial Volume in Patients With Craniosynostosis? 61
30973835 2019
16
Short- and Long-Term Outcomes by Procedure Type for Nonsagittal Single-Suture Craniosynostosis. 61
30640851 2019
17
Classification of Subtypes of Apert Syndrome, Based on the Type of Vault Suture Synostosis. 61
31044122 2019
18
A systematic review of endoscopic versus open treatment of craniosynostosis. Part 2: the nonsagittal single sutures. 61
29979132 2018
19
Novel 1q22-q23.1 duplication in a patient with lambdoid and metopic craniosynostosis, muscular hypotonia, and psychomotor retardation. 61
29845577 2018
20
The Role of Preoperative Imaging in the Management of Nonsyndromic Lambdoid Craniosynostosis. 61
29040146 2018
21
Treatment of Unilateral Lambdoid Synostosis Using Cranium Distraction Osteogenesis With Z-shaped Osteotomy. 61
28059851 2017
22
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. 61
27751966 2016
23
Surgical correction of lambdoid synostosis - New technique and first results. 61
27595190 2016
24
Biallelic mutations in CYP26B1: A differential diagnosis for Pfeiffer and Antley-Bixler syndromes. 61
27410456 2016
25
Neosuture formation after endoscope-assisted craniosynostosis repair. 61
27128960 2016
26
Differential spatial regulation of BMP molecules is associated with single-suture craniosynostosis. 61
27035551 2016
27
[DEMOGRAPHIC AND ANATOMIC CHARACTERISTICS AND SURGERY RESULTS IN CHILDREN WHO WERE TREATED IN SOROKA FOR CRANIOSYNOSTOSIS]. 61
27526554 2016
28
Physiological Changes and Clinical Implications of Syndromic Craniosynostosis. 61
27226850 2016
29
Lambdoid Craniosynostosis: The Relationship with Chiari Deformations and an Analysis of Surgical Outcomes. 61
26910678 2016
30
Oculo-auriculo-vertebral spectrum with craniosynostosis and osteo-cartilagineous multiple defects: a diffuse chondro-membranous-osteo-dysplasia. 61
26714781 2015
31
Diagnostic features of prematurely fused cranial sutures on plain skull X-rays. 61
26298825 2015
32
Lambdoid Synostosis Versus Positional Posterior Plagiocephaly, a Comparison of Skull Base and Shape of Calvarium Using Computed Tomography Imaging. 61
26335322 2015
33
Maternofetal Trauma in Craniosynostosis. 61
26218396 2015
34
Cranial Base and Posterior Cranial Vault Asymmetry After Open and Endoscopic Repair of Isolated Lambdoid Craniosynostosis. 61
26114505 2015
35
Intellectual and academic functioning of school-age children with single-suture craniosynostosis. 61
25713274 2015
36
Occipital plagiocephaly: unilateral lambdoid synostosis versus positional plagiocephaly. 61
25275089 2015
37
Craniosynostosis of the lambdoid suture. 61
25210507 2014
38
Surgical correction for unilateral lambdoid synostosis: a systematic review. 61
24978452 2014
39
Clinical and imaging findings in children with non-syndromic lambdoid synostosis. 61
24162514 2014
40
Suitable indication for the application of distraction osteogenesis: occipital enlargement for lambdoid synostosis. 61
24036720 2013
41
Laypersons' ratings of appearance in children with and without single-suture craniosynostosis. 61
23851801 2013
42
Benign radiographic coronal synostosis after sagittal synostosis repair. 61
23714915 2013
43
Does conventional posterior vault remodeling alter endocranial morphology in patients with true lambdoid synostosis? 61
23348266 2013
44
Chiari malformation in nonsyndromal single craniosynostosis--much ado about nothing? 61
22790904 2012
45
Posterior plagiocephaly. 61
22872253 2012
46
Craniosynostosis: posterior two-third cranial vault reconstruction using bioresorbable plates and a PDS suture lattice in sagittal and lambdoid synostosis. 61
22872255 2012
47
Chiari malformation associated with craniosynostosis. 61
21882907 2011
48
Analysis of differences in the cranial base and facial skeleton of patients with lambdoid synostosis and deformational plagiocephaly. 61
20871483 2011
49
Lambdoid synostosis and craniofacial dysmorphism with normal intellect: A novel syndrome? 61
21204239 2011
50
The variable position of the ear in lambdoid synostosis. 61
20948412 2011

Variations for Lambdoid Synostosis

ClinVar genetic disease variations for Lambdoid Synostosis:

6 (show all 13)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ERF NM_006494.4(ERF):c.256C>T (p.Arg86Cys) SNV Pathogenic 55925 rs587777008 19:42754484-42754484 19:42250332-42250332
2 ERF NM_006494.4(ERF):c.194G>A (p.Arg65Gln) SNV Pathogenic 55926 rs587777009 19:42754546-42754546 19:42250394-42250394
3 ERF NM_006494.4(ERF):c.1270C>T (p.Gln424Ter) SNV Pathogenic 55927 rs587777010 19:42752994-42752994 19:42248842-42248842
4 ERF NM_006494.4(ERF):c.23-2A>G SNV Pathogenic 218956 rs864321680 19:42754719-42754719 19:42250567-42250567
5 ERF NM_006494.4(ERF):c.1A>G (p.Met1Val) SNV Pathogenic 218957 rs864321681 19:42759151-42759151 19:42254999-42254999
6 ERF NM_006494.4(ERF):c.547C>T (p.Arg183Ter) SNV Pathogenic 55923 rs587777006 19:42753717-42753717 19:42249565-42249565
7 ERF NM_006494.4(ERF):c.547C>T (p.Arg183Ter) SNV Pathogenic 55923 rs587777006 19:42753717-42753717 19:42249565-42249565
8 ERF NM_006494.4(ERF):c.566_567del (p.Asp188_Cys189insTer) Deletion Pathogenic 543070 rs1555750816 19:42753697-42753698 19:42249545-42249546
9 ERF NM_006494.4(ERF):c.1201_1202del (p.Lys401fs) Deletion Pathogenic 420168 rs1064794325 19:42753062-42753063 19:42248910-42248911
10 ERF NM_006494.4(ERF):c.1049del (p.Leu350fs) Deletion Likely pathogenic 977100 19:42753215-42753215 19:42249063-42249063
11 ERF NM_006494.4(ERF):c.891_892del (p.Gly299fs) Deletion Likely pathogenic 55924 rs587777007 19:42753372-42753373 19:42249220-42249221
12 ERF NM_006494.4(ERF):c.286A>T (p.Lys96Ter) SNV Likely pathogenic 635528 rs1599823350 19:42754066-42754066 19:42249914-42249914
13 MYH7 NM_000257.4(MYH7):c.3667G>A (p.Glu1223Lys) SNV Uncertain significance 195928 rs794727410 14:23889113-23889113 14:23419904-23419904

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 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-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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