MCID: LMB009
MIFTS: 18

Lambdoid Synostosis

Categories: Rare diseases
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Aliases & Classifications for Lambdoid Synostosis

MalaCards integrated aliases for Lambdoid Synostosis:

Name: Lambdoid Synostosis 19 5
Synostotic Posterior Plagiocephaly 71
Craniosynostosis, Lambdoidal 19

Classifications:



External Ids:

UMLS 71 C1833340

Summaries for Lambdoid Synostosis

GARD: 19 Familial 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.

MalaCards based summary: Lambdoid Synostosis, also known as synostotic posterior plagiocephaly, is related to craniofacial dyssynostosis with short stature and non-syndromic bilambdoid craniosynostosis. An important gene associated with Lambdoid Synostosis is ERF (ETS2 Repressor Factor). Affiliated tissues include bone.

Related Diseases for Lambdoid Synostosis

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

(show all 15)
# Related Disease Score Top Affiliating Genes
1 craniofacial dyssynostosis with short stature 11.2
2 non-syndromic bilambdoid craniosynostosis 11.2
3 non-syndromic unilambdoid craniosynostosis 11.2
4 synostosis 10.9
5 craniosynostosis 10.7
6 plagiocephaly 10.7
7 craniosynostosis 4 10.2
8 cardiofaciocutaneous syndrome 1 10.1
9 hemifacial hyperplasia 10.1
10 torticollis 10.1
11 sudden infant death syndrome 10.1
12 scoliosis 10.1
13 hydrocephalus 10.1
14 humeroradioulnar synostosis 10.1
15 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

Drugs & Therapeutics for Lambdoid Synostosis

Search Clinical Trials, NIH Clinical Center for Lambdoid Synostosis

Genetic Tests for Lambdoid Synostosis

Anatomical Context for Lambdoid Synostosis

Organs/tissues related to Lambdoid Synostosis:

MalaCards : Bone

Publications for Lambdoid Synostosis

Articles related to Lambdoid Synostosis:

(show top 50) (show all 118)
# Title Authors PMID Year
1
ERF-related craniosynostosis: The phenotypic and developmental profile of a new craniosynostosis syndrome. 5
30758909 2019
2
Chitayat syndrome: hyperphalangism, characteristic facies, hallux valgus and bronchomalacia results from a recurrent c.266A>G p.(Tyr89Cys) variant in the ERF gene. 5
27738187 2017
3
Heterozygous mutations in ERF cause syndromic craniosynostosis with multiple suture involvement. 5
26097063 2015
4
Reduced dosage of ERF causes complex craniosynostosis in humans and mice and links ERK1/2 signaling to regulation of osteogenesis. 5
23354439 2013
5
Rotation Advancement Distraction Osteogenesis Technique is Attributed to Unilateral Lambdoid Synostosis and is Used to Correct Posterior Plagiocephaly. 62
35946830 2022
6
Clinical and Genetic Studies of the First Monozygotic Twins with Pfeiffer Syndrome. 62
36292735 2022
7
Cognitive Development in Lambdoid Craniosynostosis: A Systematic Review and Meta-Analysis. 62
36177519 2022
8
Lambdoid Craniosynostosis in an Infant With Congenital Cystic Adenomatoid Malformation (CCAM). 62
35200206 2022
9
Premature Fusion of the Posterior Intraoccipital Synchondrosis, A Minor Suture Mimic of Lambdoid Craniosynostosis. 62
35758472 2022
10
Does the association between abnormal anatomy of the skull base and cerebellar tonsillar position also exist in syndromic craniosynostosis? 62
34799294 2022
11
Unexpected role of SIX1 variants in craniosynostosis: expanding the phenotype of SIX1-related disorders. 62
33436522 2022
12
Clinical Features and the Use of Three-Dimensional Imaging for Unilateral Lambdoid Synostosis. 62
34538783 2022
13
Conventional posterior cranial vault expansion: indications and results-review of the literature. 62
34604916 2021
14
Synostosis of the lambdoid suture: a spectrum. 62
33404727 2021
15
Lambdoid synostosis: endoscopic craniectomy. 62
36284846 2021
16
Partial suturectomy for phenotypical craniosynostosis caused by incomplete fusion of cranial sutures: a novel surgical solution. 62
33794501 2021
17
Isolated Frontosphenoidal Craniosynostosis: The Alder Hey Experience and a Novel Algorithm to Aid Diagnosis. 62
33055560 2021
18
A Novel Sand Dollar and Staves Technique for Unilateral Lambdoid Craniosynostosis. 62
32796305 2021
19
Distinguishing Craniomorphometric Characteristics of Unilateral Lambdoid Craniosynostosis. 62
33156173 2021
20
Endoscopic Spring-Mediated Distraction for Unilambdoid Craniosynostosis. 62
32804827 2020
21
Cortical Thickness in Crouzon-Pfeiffer Syndrome: Findings in Relation to Primary Cranial Vault Expansion. 62
33173703 2020
22
Posterior calvarial distraction for complex craniosynostosis and cerebellar tonsillar herniation. 62
32650306 2020
23
Three-Dimensional Volumetric Changes in Posterior Vault Distraction With Distraction Osteogenesis. 62
32282486 2020
24
Comparison of Black Bone MRI and 3D-CT in the preoperative evaluation of patients with craniosynostosis. 62
31917189 2020
25
Comparative analysis of cranial vault remodeling versus endoscopic suturectomy in the treatment of unilateral lambdoid craniosynostosis. 62
32302983 2020
26
Isolated Lambdoid Craniosynostosis. 62
31633668 2019
27
Can Head Circumference Be Used as a Proxy for Intracranial Volume in Patients With Craniosynostosis? 62
30973835 2019
28
Short- and Long-Term Outcomes by Procedure Type for Nonsagittal Single-Suture Craniosynostosis. 62
30640851 2019
29
Classification of Subtypes of Apert Syndrome, Based on the Type of Vault Suture Synostosis. 62
31044122 2019
30
A systematic review of endoscopic versus open treatment of craniosynostosis. Part 2: the nonsagittal single sutures. 62
29979132 2018
31
Novel 1q22-q23.1 duplication in a patient with lambdoid and metopic craniosynostosis, muscular hypotonia, and psychomotor retardation. 62
29845577 2018
32
The Role of Preoperative Imaging in the Management of Nonsyndromic Lambdoid Craniosynostosis. 62
29040146 2018
33
Treatment of Unilateral Lambdoid Synostosis Using Cranium Distraction Osteogenesis With Z-shaped Osteotomy. 62
28059851 2017
34
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. 62
27751966 2016
35
Biallelic mutations in CYP26B1: A differential diagnosis for Pfeiffer and Antley-Bixler syndromes. 62
27410456 2016
36
Surgical correction of lambdoid synostosis - New technique and first results. 62
27595190 2016
37
Neosuture formation after endoscope-assisted craniosynostosis repair. 62
27128960 2016
38
Differential spatial regulation of BMP molecules is associated with single-suture craniosynostosis. 62
27035551 2016
39
Physiological Changes and Clinical Implications of Syndromic Craniosynostosis. 62
27226850 2016
40
[DEMOGRAPHIC AND ANATOMIC CHARACTERISTICS AND SURGERY RESULTS IN CHILDREN WHO WERE TREATED IN SOROKA FOR CRANIOSYNOSTOSIS]. 62
27526554 2016
41
Lambdoid Craniosynostosis: The Relationship with Chiari Deformations and an Analysis of Surgical Outcomes. 62
26910678 2016
42
Oculo-auriculo-vertebral spectrum with craniosynostosis and osteo-cartilagineous multiple defects: a diffuse chondro-membranous-osteo-dysplasia. 62
26714781 2015
43
Diagnostic features of prematurely fused cranial sutures on plain skull X-rays. 62
26298825 2015
44
Lambdoid Synostosis Versus Positional Posterior Plagiocephaly, a Comparison of Skull Base and Shape of Calvarium Using Computed Tomography Imaging. 62
26335322 2015
45
Maternofetal Trauma in Craniosynostosis. 62
26218396 2015
46
Cranial Base and Posterior Cranial Vault Asymmetry After Open and Endoscopic Repair of Isolated Lambdoid Craniosynostosis. 62
26114505 2015
47
Intellectual and academic functioning of school-age children with single-suture craniosynostosis. 62
25713274 2015
48
Occipital plagiocephaly: unilateral lambdoid synostosis versus positional plagiocephaly. 62
25275089 2015
49
Craniosynostosis of the lambdoid suture. 62
25210507 2014
50
Surgical correction for unilateral lambdoid synostosis: a systematic review. 62
24978452 2014

Variations for Lambdoid Synostosis

ClinVar genetic disease variations for Lambdoid Synostosis:

5 (show all 20)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ERF NM_006494.4(ERF):c.547C>T (p.Arg183Ter) SNV Pathogenic
Pathogenic
55923 rs587777006 GRCh37: 19:42753717-42753717
GRCh38: 19:42249565-42249565
2 ERF NM_006494.4(ERF):c.194G>A (p.Arg65Gln) SNV Pathogenic
55926 rs587777009 GRCh37: 19:42754546-42754546
GRCh38: 19:42250394-42250394
3 ERF NM_006494.4(ERF):c.1270C>T (p.Gln424Ter) SNV Pathogenic
55927 rs587777010 GRCh37: 19:42752994-42752994
GRCh38: 19:42248842-42248842
4 ERF NM_006494.4(ERF):c.23-2A>G SNV Pathogenic
218956 rs864321680 GRCh37: 19:42754719-42754719
GRCh38: 19:42250567-42250567
5 ERF NM_006494.4(ERF):c.1A>G (p.Met1Val) SNV Pathogenic
218957 rs864321681 GRCh37: 19:42759151-42759151
GRCh38: 19:42254999-42254999
6 ERF NM_006494.4(ERF):c.22+2T>G SNV Pathogenic
1224302 GRCh37: 19:42759128-42759128
GRCh38: 19:42254976-42254976
7 ERF NM_006494.4(ERF):c.566_567del (p.Asp188_Cys189insTer) DEL Pathogenic
543070 rs1555750816 GRCh37: 19:42753697-42753698
GRCh38: 19:42249545-42249546
8 ERF NM_006494.4(ERF):c.256C>T (p.Arg86Cys) SNV Pathogenic
55925 rs587777008 GRCh37: 19:42754484-42754484
GRCh38: 19:42250332-42250332
9 ERF NM_006494.4(ERF):c.1201_1202del (p.Lys401fs) DEL Pathogenic
420168 rs1064794325 GRCh37: 19:42753062-42753063
GRCh38: 19:42248910-42248911
10 ERF NM_006494.4(ERF):c.891_892del (p.Gly299fs) DEL Likely Pathogenic
55924 rs587777007 GRCh37: 19:42753372-42753373
GRCh38: 19:42249220-42249221
11 ERF NM_006494.4(ERF):c.41G>A (p.Trp14Ter) SNV Likely Pathogenic
1031051 rs2036427390 GRCh37: 19:42754699-42754699
GRCh38: 19:42250547-42250547
12 ERF NM_006494.4(ERF):c.517_521dup (p.Ala175fs) DUP Likely Pathogenic
1199415 GRCh37: 19:42753742-42753743
GRCh38: 19:42249590-42249591
13 ERF NM_006494.4(ERF):c.939C>A (p.Tyr313Ter) SNV Likely Pathogenic
1334510 GRCh37: 19:42753325-42753325
GRCh38: 19:42249173-42249173
14 ERF NM_006494.4(ERF):c.286A>T (p.Lys96Ter) SNV Likely Pathogenic
635528 rs1599823350 GRCh37: 19:42754066-42754066
GRCh38: 19:42249914-42249914
15 ERF NM_006494.4(ERF):c.1049del (p.Leu350fs) DEL Likely Pathogenic
977100 rs2036390617 GRCh37: 19:42753215-42753215
GRCh38: 19:42249063-42249063
16 ERF NM_006494.4(ERF):c.1030C>G (p.Arg344Gly) SNV Uncertain Significance
1031050 rs1395870549 GRCh37: 19:42753234-42753234
GRCh38: 19:42249082-42249082
17 ERF NM_006494.4(ERF):c.373+8C>T SNV Uncertain Significance
1696540 GRCh37: 19:42753971-42753971
GRCh38: 19:42249819-42249819
18 ERF NM_006494.4(ERF):c.398C>T (p.Pro133Leu) SNV Uncertain Significance
1696620 GRCh37: 19:42753866-42753866
GRCh38: 19:42249714-42249714
19 ERF NM_006494.4(ERF):c.226A>G (p.Met76Val) SNV Uncertain Significance
1707521 GRCh37: 19:42754514-42754514
GRCh38: 19:42250362-42250362
20 MYH7 NM_000257.4(MYH7):c.3667G>A (p.Glu1223Lys) SNV Uncertain Significance
195928 rs794727410 GRCh37: 14:23889113-23889113
GRCh38: 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

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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