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

Diseases in the Syngnathia family:

Syngnathia Multiple Anomalies

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

(show all 34)
# Related Disease Score Top Affiliating Genes
1 cleft palate, isolated 30.0 ALX3 BMP4 FOXC2 IRF6 MSX1
2 syngnathia multiple anomalies 12.3
3 syngnathia cleft palate 12.3
4 isolated congenital syngnathia 12.1
5 popliteal pterygium syndrome 11.5
6 dobrow syndrome 11.5
7 cleft lip and alveolus 10.3 IRF6 MSX1
8 isolated cleft lip 10.3 IRF6 MSX1
9 fryns syndrome 10.3
10 widow's peak 10.2 ALX1 ALX3
11 ankyloglossia 10.2 FOXC2 IRF6
12 tooth size 10.2 BMP4 FGF8 MSX1
13 coloboma of macula 10.2
14 microcephaly 10.2
15 cleft palate with or without ankyloglossia, x-linked 10.2 BMP4 FGF8 MSX1
16 cleft lip 10.2 BMP4 IRF6 MSX1
17 cleft lip/palate 10.1 BMP4 IRF6 MSX1
18 orofacial cleft 10.1 BMP4 IRF6 MSX1
19 distichiasis 10.1 FOXC1 FOXC2
20 physical disorder 10.0 BMP4 FGF8 IRF6 MSX1
21 hypothyroidism, thyroidal or athyroidal, with spiky hair and cleft palate 10.0 DLX2 MSX1
22 van der woude syndrome 1 10.0
23 fryns microphthalmia syndrome 10.0
24 choanal atresia, posterior 10.0
25 brachydactyly 10.0
26 hypospadias 10.0
27 ankylosis 10.0
28 tracheoesophageal fistula 10.0
29 hard palate cancer 10.0 BARX1 MSX1
30 agnathia-otocephaly complex 10.0 ALX3 BMP4 FGF8 MSX1
31 split-hand/foot malformation 2 10.0 DLX2 DLX5 FGF8
32 hereditary lymphedema 10.0 FOXC1 FOXC2
33 split-hand/foot malformation 5 10.0 DLX2 DLX5
34 tooth agenesis 9.9 BMP4 DLX2 IRF6 MSX1

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

GenomeRNAi Phenotypes related to Syngnathia according to GeneCards Suite gene sharing:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability with carboplatin GR00207-A-7 9.23 EDNRA FOXC1
2 Decreased viability with carboplatin GR00207-A-9 9.23 EDNRA FOXC1

MGI Mouse Phenotypes related to Syngnathia:

47 (show all 19)
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 10.46 ALX1 ALX3 BARX1 BMP4 CHL1 DLX2
2 digestive/alimentary MP:0005381 10.42 ALX1 ALX3 BARX1 BMP4 DLX2 DLX5
3 growth/size/body region MP:0005378 10.41 ALX1 ALX3 BARX1 BMP4 CHL1 DLX2
4 behavior/neurological MP:0005386 10.36 ALX1 ALX3 BMP4 CHL1 DLX2 DLX5
5 cardiovascular system MP:0005385 10.35 BMP4 DLX2 DLX5 EDNRA FGF8 FOXC1
6 embryo MP:0005380 10.35 ALX1 ALX3 BMP4 DLX5 EDNRA FGF8
7 mortality/aging MP:0010768 10.34 ALX1 ALX3 BARX1 BMP4 DLX2 DLX5
8 cellular MP:0005384 10.31 ALX3 BARX1 BMP4 DLX5 EDNRA FGF8
9 hearing/vestibular/ear MP:0005377 10.27 ALX1 BMP4 DLX2 DLX5 EDNRA FGF8
10 nervous system MP:0003631 10.21 ALX1 ALX3 BMP4 CHL1 DLX2 DLX5
11 limbs/digits/tail MP:0005371 10.2 ALX1 ALX3 BMP4 DLX5 FGF8 FOXC1
12 endocrine/exocrine gland MP:0005379 10.18 ALX3 BMP4 EDNRA FGF8 FOXC1 HAND2
13 muscle MP:0005369 10.14 BMP4 DLX2 DLX5 EDNRA FGF8 FOXC1
14 normal MP:0002873 10.06 ALX1 BMP4 DLX5 EDNRA FGF8 FOXC1
15 integument MP:0010771 10.02 BMP4 DLX5 EDNRA FOXC1 IRF6 MSX1
16 respiratory system MP:0005388 9.93 ALX1 ALX3 BMP4 CHL1 DLX2 DLX5
17 renal/urinary system MP:0005367 9.8 BMP4 EDNRA FGF8 FOXC1 FOXC2 SIX1
18 skeleton MP:0005390 9.8 ALX1 ALX3 BMP4 DLX2 DLX5 EDNRA
19 vision/eye MP:0005391 9.32 ALX1 ALX3 BMP4 EDNRA FGF8 FOXC1

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, Thyroid

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
Congenital Synechia and Syngnathia: Two Case Reports. ( 29394978 )
2018
3
Syngnathia-Congenital Maxillomandibular fusion: Case Report and Literature Review. ( 29447830 )
2018
4
Oral malformation with complete maxillomandibular bone fusion (Congenital Syngnathia). ( 29673683 )
2018
5
Maxillomandibular Syngnathia: 3D Planning and Review of the Literature. ( 29892327 )
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
Popliteal Pterygium Syndrome With Syngnathia. ( 28468208 )
2017
9
Unilateral complex syngnathia of the maxilla, mandible, and zygomatic complex in a newborn baby. ( 27372233 )
2017
10
Congenital Syngnathia; Turmoils and Tragedy. ( 28083498 )
2017
11
Complete Maxillo-Mandibular Syngnathia in a Newborn with Multiple Congenital Malformations. ( 23778189 )
2016
12
Isolated bony syngnathia. ( 26803438 )
2016
13
Fiber optic intubation of a neonate with Syngnathia under local anesthesia and sedation. ( 27006567 )
2016
14
Anesthesia-airway management in a newborn with syngnathia. ( 27687459 )
2016
15
Congenital bilateral syngnathia and tracheoesophageal fistula: A rare presentation. ( 27994431 )
2016
16
Syngnathia Between the Palate and Mouth Floor, Cleft Palate, and Funnel Chest. ( 28005814 )
2016
17
Postnatal Diagnosis of a Baby With Multiple Rare Congenital Anomalies Including Syngnathia, Brain Dysmorphism, and Skin Pigmentation. ( 25325328 )
2015
18
Journey to chew: a case of maxillary duplication and bony syngnathia. ( 25487671 )
2015
19
Congenital maxillomandibular syngnathia: a new management technique using distraction techniques. ( 25569423 )
2015
20
Congenital intra-oral adhesions: a surgical approach to cleft palate lateral synechia syndrome. ( 25819497 )
2015
21
Syngnathia and obstructive apnea in a case of popliteal pterygium syndrome. ( 25388409 )
2014
22
Directed Bmp4 expression in neural crest cells generates a genetic model for the rare human bony syngnathia birth defect. ( 24785830 )
2014
23
Bilateral maxillo-mandibular syngnathia in a newborn. ( 25426216 )
2014
24
Bilateral maxillo-mandibular syngnathia in a newborn. ( 26023524 )
2014
25
Interaction between Foxc1 and Fgf8 during mammalian jaw patterning and in the pathogenesis of syngnathia. ( 24385915 )
2013
26
Prenatal diagnosis of congenital syngnathia by 3D ultrasound and pathological correlation. ( 27276933 )
2013
27
Cleft palate lateral synechia syndrome. ( 24163560 )
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
Choanal atresia, syngnathia, brachydactyly, mental retardation and short stature: an X-linked syndrome? ( 19730370 )
2010
31
Congenital syngnathia: case report and review of literature. ( 20500072 )
2010
32
Congenital fusion of the maxilla and mandible (congenital bony syngnathia). ( 20537862 )
2010
33
Congenital bony syngnathia with unilateral palatal shelf and soft palate agenesis. ( 20856069 )
2010
34
Congenital unilateral maxillo-mandibulo-zygomatic fusion (syngnathia): a case report in an 8-year-old boy. ( 20097541 )
2010
35
"Bochdalek" skull (syngnathia): CT examination. ( 20196476 )
2009
36
Congenital maxillomandibular syngnathia: case report. ( 19231229 )
2009
37
Cleft palate lateral synechia syndrome: an opportunity for unique surgical closure. ( 19368978 )
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
Popliteal pterygium syndrome with syngnathia. ( 12535046 )
2003
44
Syngnathia and Van der Woude syndrome: a case report and literature review. ( 12498614 )
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
11.94 BMP4 FGF8 FOXC1 FOXC2
2 11.56 BMP4 IRF6 MSX1
3 11.36 BMP4 DLX5 FGF8 MSX1 MSX2
4 10.68 BMP4 FGF8 FOXC1 FOXC2 HAND2

GO Terms for Syngnathia

Cellular components related to Syngnathia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 9.77 ALX1 ALX3 BARX1 DLX2 DLX5 FOXC1
2 transcription factor complex GO:0005667 8.92 ALX1 HAND2 SIX1 SIX2

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

(show top 50) (show all 93)
# Name GO ID Score Top Affiliating Genes
1 anatomical structure morphogenesis GO:0009653 9.99 FGF8 FOXC1 FOXC2 SIX2
2 ossification GO:0001503 9.97 BMP4 DLX5 FOXC1 FOXC2 MSX2
3 anterior/posterior pattern specification GO:0009952 9.96 ALX1 BARX1 MSX1 MSX2
4 negative regulation of neuron apoptotic process GO:0043524 9.95 CHL1 FGF8 SIX1
5 BMP signaling pathway GO:0030509 9.95 BMP4 DLX5 FGF8 MSX1 MSX2
6 cartilage development GO:0051216 9.94 BMP4 DLX2 MSX1 MSX2
7 osteoblast differentiation GO:0001649 9.93 BMP4 DLX5 MSX2
8 roof of mouth development GO:0060021 9.93 ALX1 DLX5 HAND2 MSX1
9 epithelial cell differentiation GO:0030855 9.92 BARX1 DLX5 SIX1
10 camera-type eye development GO:0043010 9.92 BMP4 FOXC1 FOXC2
11 embryonic digit morphogenesis GO:0042733 9.92 BMP4 HAND2 MSX1 MSX2
12 odontogenesis of dentin-containing tooth GO:0042475 9.92 BMP4 DLX2 FOXC1 HAND2 MSX1
13 inner ear morphogenesis GO:0042472 9.91 DLX5 FGF8 SIX1
14 outflow tract morphogenesis GO:0003151 9.91 BMP4 FGF8 MSX2 SIX1
15 embryonic limb morphogenesis GO:0030326 9.91 ALX1 BMP4 DLX5 MSX1 MSX2
16 kidney development GO:0001822 9.91 BMP4 FGF8 FOXC1 FOXC2 SIX1 SIX2
17 blood vessel development GO:0001568 9.9 BMP4 FOXC1 FOXC2
18 ureteric bud development GO:0001657 9.9 BMP4 FOXC1 FOXC2 SIX1
19 positive regulation of cell differentiation GO:0045597 9.89 BMP4 DLX2 FGF8
20 positive regulation of epithelial to mesenchymal transition GO:0010718 9.89 ALX1 BMP4 FOXC1
21 branching involved in ureteric bud morphogenesis GO:0001658 9.89 BMP4 FGF8 SIX1
22 heart morphogenesis GO:0003007 9.89 FGF8 FOXC1 FOXC2 HAND2 MSX1
23 bone morphogenesis GO:0060349 9.88 DLX5 MSX1 MSX2
24 metanephros development GO:0001656 9.88 BMP4 FGF8 FOXC2 SIX2
25 odontogenesis GO:0042476 9.88 BMP4 FGF8 MSX1 MSX2
26 positive regulation of BMP signaling pathway GO:0030513 9.87 BMP4 MSX1 MSX2
27 protein localization to nucleus GO:0034504 9.87 BMP4 MSX1 SIX1
28 embryonic forelimb morphogenesis GO:0035115 9.87 ALX3 MSX1 MSX2
29 blood vessel remodeling GO:0001974 9.86 FGF8 FOXC1 FOXC2
30 branching involved in blood vessel morphogenesis GO:0001569 9.86 EDNRA FGF8 FOXC2
31 outflow tract septum morphogenesis GO:0003148 9.85 BMP4 FGF8 MSX2
32 embryonic skeletal system morphogenesis GO:0048704 9.85 ALX1 ALX3 BMP4 FOXC2 SIX1 SIX2
33 anatomical structure development GO:0048856 9.84 BARX1 SIX1 SIX2
34 endochondral ossification GO:0001958 9.84 BMP4 DLX5 FOXC1
35 neural crest cell development GO:0014032 9.84 EDNRA FOXC1 FOXC2 HAND2
36 embryonic heart tube development GO:0035050 9.83 FGF8 FOXC1 FOXC2
37 middle ear morphogenesis GO:0042474 9.83 MSX1 SIX1 SIX2
38 signal transduction involved in regulation of gene expression GO:0023019 9.82 FGF8 MSX1 MSX2
39 embryonic hindlimb morphogenesis GO:0035116 9.8 ALX3 BMP4 FGF8 MSX1 MSX2
40 organ induction GO:0001759 9.79 BMP4 FGF8 SIX1
41 thyroid gland development GO:0030878 9.77 FGF8 SIX1
42 ventricular cardiac muscle tissue morphogenesis GO:0055010 9.77 FOXC1 FOXC2
43 anatomical structure formation involved in morphogenesis GO:0048646 9.77 BMP4 DLX5
44 artery morphogenesis GO:0048844 9.77 FOXC1 FOXC2
45 BMP signaling pathway involved in heart development GO:0061312 9.77 BMP4 MSX1 MSX2
46 tissue development GO:0009888 9.76 BARX1 BMP4
47 lung morphogenesis GO:0060425 9.76 BMP4 FGF8
48 head development GO:0060322 9.76 DLX5 EDNRA
49 pharyngeal system development GO:0060037 9.76 FGF8 SIX1
50 regulation of blood vessel size GO:0050880 9.76 FOXC1 FOXC2

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

# Name GO ID Score Top Affiliating Genes
1 transcription regulatory region DNA binding GO:0044212 9.91 DLX5 FOXC1 FOXC2 HAND2 IRF6 MSX2
2 DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001228 9.8 ALX1 BARX1 DLX2 FOXC1 FOXC2 IRF6
3 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.77 ALX1 ALX3 BARX1 DLX2 DLX5 FOXC1
4 transcription factor binding GO:0008134 9.76 FOXC1 HAND2 MSX2 SIX2
5 RNA polymerase II regulatory region sequence-specific DNA binding GO:0000977 9.76 ALX1 BARX1 DLX2 FOXC1 FOXC2 HAND2
6 sequence-specific DNA binding GO:0043565 9.44 ALX1 ALX3 BARX1 DLX2 DLX5 FOXC1
7 transcription coactivator binding GO:0001223 9.43 FOXC1 SIX1
8 DNA binding GO:0003677 10.13 ALX1 ALX3 BARX1 DLX2 DLX5 FOXC1
9 DNA-binding transcription factor activity GO:0003700 10.01 ALX1 BARX1 DLX2 FOXC1 FOXC2 IRF6

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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