MCID: SYN075
MIFTS: 47

Syngnathia

Categories: Fetal diseases, Rare diseases

Aliases & Classifications for Syngnathia

MalaCards integrated aliases for Syngnathia:

Name: Syngnathia 58 12
Cleft Palate-Lateral Synechia Syndrome 58 12 60 30 45 15 74
Cpls Syndrome 58 12 60
Cleft Palate Lateral Synechia Syndrome 54

Characteristics:

Orphanet epidemiological data:

60
cleft palate-lateral synechia syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal;

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
syngnathia:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0080313
OMIM 58 119550
MeSH 45 C563047
ICD10 34 Q87.8
ICD10 via Orphanet 35 Q87.8
UMLS via Orphanet 75 C0795898
Orphanet 60 ORPHA2016
MedGen 43 C0795898
UMLS 74 C0795898

Summaries for Syngnathia

OMIM : 58 Syngnathia refers to congenital fusion of the maxilla and mandible. The fusion can be classified depending on the nature of the connecting tissue as either fibrous or bony fusion. Laster et al. (2001) proposed a classification for bony syngnathia into 4 types. Type 1a is simple anterior syngnathia characterized by bony fusion of the alveolar ridge only; type 1b is complex anterior syngnathia characterized by bony fusion of the alveolar ridges and also associated with other congenital malformations in the head and neck region; type 2a is simple mandibulozygomatic syngnathia characterized by bony fusion of the mandible to zygoma; and type 2b is complex mandibulozygomatic syngnathia characterized by bony fusion of the mandible to the zygoma and associated with cleft palate and/or temporomandibular joint ankylosis. (119550)

MalaCards based summary : Syngnathia, also known as cleft palate-lateral synechia syndrome, is related to cleft palate, isolated and syngnathia multiple anomalies. An important gene associated with Syngnathia is IRF6 (Interferon Regulatory Factor 6), and among its related pathways/superpathways are Mesodermal Commitment Pathway and Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers. Affiliated tissues include tongue, skin and brain, and related phenotypes are cleft palate and micrognathia

Disease Ontology : 12 A physical disorder that is characterized by fusion of maxilla and mandible with autosomal dominant inheritance.

Wikipedia : 77 Syngnathia is a congenital adhesion of the maxilla and mandible by fibrous... more...

Related Diseases for Syngnathia

Graphical network of the top 20 diseases related to Syngnathia:



Diseases related to Syngnathia

Symptoms & Phenotypes for Syngnathia

Human phenotypes related to Syngnathia:

60 33 (show all 8)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cleft palate 60 33 hallmark (90%) Very frequent (99-80%) HP:0000175
2 micrognathia 60 33 frequent (33%) Frequent (79-30%) HP:0000347
3 everted lower lip vermilion 60 33 frequent (33%) Frequent (79-30%) HP:0000232
4 abnormality of the voice 60 33 frequent (33%) Frequent (79-30%) HP:0001608
5 oral synechia 60 33 frequent (33%) Frequent (79-30%) HP:0010285
6 full cheeks 60 33 occasional (7.5%) Occasional (29-5%) HP:0000293
7 narrow mouth 60 33 occasional (7.5%) Occasional (29-5%) HP:0000160
8 blepharophimosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0000581

Symptoms via clinical synopsis from OMIM:

58
Mouth:
cleft palate
lateral synechia
cord-like adhesions between tongue and floor of mouth

Clinical features from OMIM:

119550

MGI Mouse Phenotypes related to Syngnathia:

47 (show all 15)
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 10.24 BARX1 BMP4 CHL1 DLX2 FGF8 FOXC1
2 growth/size/body region MP:0005378 10.19 BARX1 BMP4 CHL1 DLX2 FGF8 FOXC1
3 digestive/alimentary MP:0005381 10.18 BARX1 BMP4 DLX2 FGF8 FOXC1 FOXC2
4 cardiovascular system MP:0005385 10.09 BMP4 DLX2 FGF8 FOXC1 FOXC2 HAND2
5 mortality/aging MP:0010768 10.06 BARX1 BMP4 DLX2 FGF8 FOXC1 FOXC2
6 embryo MP:0005380 10.05 BMP4 FGF8 FOXC1 FOXC2 HAND2 IRF6
7 hearing/vestibular/ear MP:0005377 10.02 BMP4 DLX2 FGF8 FOXC2 HAND2 IRF6
8 limbs/digits/tail MP:0005371 9.93 BMP4 FGF8 FOXC1 HAND2 IRF6 MSX1
9 nervous system MP:0003631 9.92 BMP4 CHL1 DLX2 FGF8 FOXC1 FOXC2
10 muscle MP:0005369 9.91 BMP4 DLX2 FGF8 FOXC1 FOXC2 HAND2
11 liver/biliary system MP:0005370 9.83 BMP4 FOXC1 FOXC2 HAND2 MSX1
12 normal MP:0002873 9.73 BMP4 FGF8 FOXC1 FOXC2 HAND2 MSX1
13 respiratory system MP:0005388 9.7 BMP4 CHL1 DLX2 FGF8 FOXC1 FOXC2
14 skeleton MP:0005390 9.56 BMP4 DLX2 FGF8 FOXC1 FOXC2 HAND2
15 vision/eye MP:0005391 9.02 BMP4 FGF8 FOXC1 FOXC2 MSX1

Drugs & Therapeutics for Syngnathia

Search Clinical Trials , NIH Clinical Center for Syngnathia

Cochrane evidence based reviews: cleft palate-lateral synechia syndrome

Genetic Tests for Syngnathia

Genetic tests related to Syngnathia:

# Genetic test Affiliating Genes
1 Cleft Palate-Lateral Synechia Syndrome 30

Anatomical Context for Syngnathia

MalaCards organs/tissues related to Syngnathia:

42
Tongue, Skin, Brain, Bone

Publications for Syngnathia

Articles related to Syngnathia:

(show top 50) (show all 55)
# Title Authors Year
1
Application of computer-assisted navigation in treating congenital maxillomandibular syngnathia: A case report. ( 30863765 )
2019
2
Oral malformation with complete maxillomandibular bone fusion (Congenital Syngnathia). ( 29673683 )
2018
3
Syngnathia-Congenital Maxillomandibular fusion: Case Report and Literature Review. ( 29447830 )
2018
4
Maxillomandibular Syngnathia: 3D Planning and Review of the Literature. ( 29892327 )
2018
5
Congenital Synechia and Syngnathia: Two Case Reports. ( 29394978 )
2018
6
Syngnathia. ( 30106810 )
2018
7
Release of syngnathia by anticlockwise rotation and mandibular advancement using bilateral alloplastic temporomandibular joint prostheses: a new approach. ( 30139703 )
2018
8
Congenital Syngnathia; Turmoils and Tragedy. ( 28083498 )
2017
9
Popliteal Pterygium Syndrome With Syngnathia. ( 28468208 )
2017
10
Complete Maxillo-Mandibular Syngnathia in a Newborn with Multiple Congenital Malformations. ( 23778189 )
2016
11
Fiber optic intubation of a neonate with Syngnathia under local anesthesia and sedation. ( 27006567 )
2016
12
Anesthesia-airway management in a newborn with syngnathia. ( 27687459 )
2016
13
Isolated bony syngnathia. ( 26803438 )
2016
14
Congenital bilateral syngnathia and tracheoesophageal fistula: A rare presentation. ( 27994431 )
2016
15
Syngnathia Between the Palate and Mouth Floor, Cleft Palate, and Funnel Chest. ( 28005814 )
2016
16
Unilateral complex syngnathia of the maxilla, mandible, and zygomatic complex in a newborn baby. ( 27372233 )
2016
17
Congenital maxillomandibular syngnathia: a new management technique using distraction techniques. ( 25569423 )
2015
18
Journey to chew: a case of maxillary duplication and bony syngnathia. ( 25487671 )
2015
19
Congenital intra-oral adhesions: A surgical approach to cleft palate lateral synechia syndrome. ( 25819497 )
2015
20
Postnatal Diagnosis of a Baby With Multiple Rare Congenital Anomalies Including Syngnathia, Brain Dysmorphism, and Skin Pigmentation. ( 25325328 )
2015
21
Bilateral maxillo-mandibular syngnathia in a newborn. ( 25426216 )
2014
22
Directed Bmp4 expression in neural crest cells generates a genetic model for the rare human bony syngnathia birth defect. ( 24785830 )
2014
23
Syngnathia and obstructive apnea in a case of popliteal pterygium syndrome. ( 25388409 )
2014
24
Bilateral maxillo-mandibular syngnathia in a newborn. ( 26023524 )
2014
25
Prenatal diagnosis of congenital syngnathia by 3D ultrasound and pathological correlation. ( 27276933 )
2013
26
Cleft palate lateral synechia syndrome. ( 24163560 )
2013
27
Interaction between Foxc1 and Fgf8 during mammalian jaw patterning and in the pathogenesis of syngnathia. ( 24385915 )
2013
28
A case of syngnathia, cleft palate and hypospadias: an isolated case or syndromic syngnathism? ( 21501960 )
2012
29
Congenital zygomatico-mandibular fusion (pseudo-syngnathia?) in conjunction with unilateral anophthalmia: review of terminology and classification. ( 21438651 )
2012
30
Congenital fusion of the maxilla and mandible (congenital bony syngnathia). ( 20537862 )
2010
31
Choanal atresia, syngnathia, brachydactyly, mental retardation and short stature: an X-linked syndrome? ( 19730370 )
2010
32
Congenital bony syngnathia with unilateral palatal shelf and soft palate agenesis. ( 20856069 )
2010
33
Congenital unilateral maxillo-mandibulo-zygomatic fusion (syngnathia): a case report in an 8-year-old boy. ( 20097541 )
2010
34
Congenital syngnathia: case report and review of literature. ( 20500072 )
2010
35
Cleft palate lateral synechia syndrome: an opportunity for unique surgical closure. ( 19368978 )
2009
36
Congenital maxillomandibular syngnathia: case report. ( 19231229 )
2009
37
"Bochdalek" skull (syngnathia): CT examination. ( 20196476 )
2009
38
Popliteal pterygium syndrome (PPS) with intra-alveolar syngnathia: a discussion of anesthetic and surgical considerations. ( 17651819 )
2007
39
Complete bony syngnathia: Report of a case and review. ( 17309989 )
2007
40
Bony syngnathia, vertebral segmentation defect, coloboma, microcephaly and mental retardation: confirmation of Dobrow syndrome and review of syndromal syngnathias. ( 15365455 )
2004
41
Acquired syngnathia. ( 15336772 )
2004
42
Cleft-palate lateral synechia syndrome: insight into the phenotypic spectrum of Fryns syndrome? ( 12962292 )
2003
43
Syngnathia and Van der Woude syndrome: a case report and literature review. ( 12498614 )
2003
44
Popliteal pterygium syndrome with syngnathia. ( 12535046 )
2003
45
Cleft palate lateral synechia syndrome. ( 11604632 )
2001
46
Complete congenital bony syngnathia in a case of oromandibular limb hypogenesis syndrome. ( 11314391 )
2000
47
Congenital bony syngnathia: a proposed classification. ( 9138509 )
1997
48
Congenital oral adhesion (syngnathia) with total cleft palate in a Nigerian child. ( 8547298 )
1995
49
Syngnathia: a report of two cases. ( 8280738 )
1993
50
[Source studies on the etiology, diagnosis and treatment of TMJ ankylosis and syngnathia. 1. From classical antiquity to mid-19th century]. ( 1816952 )
1991

Variations for Syngnathia

Expression for Syngnathia

Search GEO for disease gene expression data for Syngnathia.

Pathways for Syngnathia

Pathways related to Syngnathia according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.74 BMP4 FGF8 FOXC1 FOXC2
2 11.56 BMP4 IRF6 MSX1
3 11.34 BMP4 FGF8 MSX1
4 11.05 BMP4 FGF8
5 10.8 FGF8 MSX1
6 10.68 BMP4 FGF8 FOXC1 FOXC2 HAND2

GO Terms for Syngnathia

Biological processes related to Syngnathia according to GeneCards Suite gene sharing:

(show top 50) (show all 70)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of gene expression GO:0010628 9.98 BMP4 FGF8 FOXC1 HAND2
2 positive regulation of transcription by RNA polymerase II GO:0045944 9.97 BARX1 BMP4 DLX2 FOXC1 FOXC2 HAND2
3 multicellular organism development GO:0007275 9.92 BMP4 CHL1 DLX2 FGF8 FOXC1 FOXC2
4 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.9 BMP4 FGF8 HAND2
5 angiogenesis GO:0001525 9.9 BMP4 FOXC1 HAND2
6 in utero embryonic development GO:0001701 9.89 FOXC1 HAND2 MSX1
7 skeletal system development GO:0001501 9.86 BMP4 FOXC1 FOXC2
8 cell differentiation GO:0030154 9.86 BMP4 CHL1 DLX2 FGF8 FOXC1 FOXC2
9 anatomical structure morphogenesis GO:0009653 9.85 FGF8 FOXC1 FOXC2
10 ossification GO:0001503 9.83 BMP4 FOXC1 FOXC2
11 BMP signaling pathway GO:0030509 9.83 BMP4 FGF8 MSX1
12 cartilage development GO:0051216 9.81 BMP4 DLX2 MSX1
13 camera-type eye development GO:0043010 9.8 BMP4 FOXC1 FOXC2
14 embryonic digit morphogenesis GO:0042733 9.77 BMP4 HAND2 MSX1
15 blood vessel development GO:0001568 9.77 BMP4 FOXC1 FOXC2
16 positive regulation of cell differentiation GO:0045597 9.76 BMP4 DLX2 FGF8
17 kidney development GO:0001822 9.76 BMP4 FGF8 FOXC1 FOXC2
18 ureteric bud development GO:0001657 9.75 BMP4 FOXC1 FOXC2
19 embryonic limb morphogenesis GO:0030326 9.74 BMP4 MSX1
20 bone development GO:0060348 9.74 BMP4 FGF8
21 somitogenesis GO:0001756 9.74 FOXC1 FOXC2
22 embryonic skeletal system morphogenesis GO:0048704 9.74 BMP4 FOXC2
23 outflow tract morphogenesis GO:0003151 9.74 BMP4 FGF8
24 positive regulation of endothelial cell migration GO:0010595 9.74 BMP4 FOXC2
25 positive chemotaxis GO:0050918 9.73 BMP4 FGF8
26 collagen fibril organization GO:0030199 9.73 FOXC1 FOXC2
27 positive regulation of epithelial to mesenchymal transition GO:0010718 9.73 BMP4 FOXC1
28 branching involved in ureteric bud morphogenesis GO:0001658 9.73 BMP4 FGF8
29 embryonic skeletal system development GO:0048706 9.73 BMP4 DLX2
30 embryonic cranial skeleton morphogenesis GO:0048701 9.73 BMP4 DLX2 FOXC2
31 positive regulation of BMP signaling pathway GO:0030513 9.72 BMP4 MSX1
32 protein localization to nucleus GO:0034504 9.72 BMP4 MSX1
33 negative regulation of DNA binding GO:0043392 9.72 HAND2 MSX1
34 pituitary gland development GO:0021983 9.72 BMP4 MSX1
35 metanephros development GO:0001656 9.72 BMP4 FGF8 FOXC2
36 telencephalon development GO:0021537 9.71 BMP4 FGF8
37 branching involved in blood vessel morphogenesis GO:0001569 9.71 FGF8 FOXC2
38 outflow tract septum morphogenesis GO:0003148 9.71 BMP4 FGF8
39 odontogenesis GO:0042476 9.71 BMP4 FGF8 MSX1
40 endochondral ossification GO:0001958 9.7 BMP4 FOXC1
41 ventricular cardiac muscle tissue morphogenesis GO:0055010 9.7 FOXC1 FOXC2
42 artery morphogenesis GO:0048844 9.7 FOXC1 FOXC2
43 tissue development GO:0009888 9.7 BARX1 BMP4
44 lung morphogenesis GO:0060425 9.69 BMP4 FGF8
45 signal transduction involved in regulation of gene expression GO:0023019 9.69 FGF8 MSX1
46 blood vessel remodeling GO:0001974 9.69 FGF8 FOXC1 FOXC2
47 regulation of blood vessel size GO:0050880 9.68 FOXC1 FOXC2
48 cardiac muscle cell proliferation GO:0060038 9.68 FOXC1 FOXC2
49 mesonephros development GO:0001823 9.68 BMP4 FGF8
50 lymph vessel development GO:0001945 9.67 FOXC1 FOXC2

Molecular functions related to Syngnathia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 9.91 BARX1 DLX2 FOXC1 FOXC2 HAND2 IRF6
2 DNA-binding transcription factor activity GO:0003700 9.8 BARX1 DLX2 FOXC1 FOXC2 IRF6
3 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.8 BARX1 DLX2 FOXC1 FOXC2 HAND2 IRF6
4 sequence-specific DNA binding GO:0043565 9.7 BARX1 DLX2 FOXC1 FOXC2 HAND2 IRF6
5 transcription regulatory region DNA binding GO:0044212 9.62 FOXC1 FOXC2 HAND2 IRF6
6 promoter-specific chromatin binding GO:1990841 9.46 FOXC1 FOXC2
7 chemoattractant activity GO:0042056 9.43 BMP4 FGF8
8 RNA polymerase II regulatory region sequence-specific DNA binding GO:0000977 9.43 BARX1 DLX2 FOXC1 FOXC2 HAND2 MSX1
9 DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001228 9.1 BARX1 DLX2 FOXC1 FOXC2 IRF6 MSX1

Sources for Syngnathia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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