MCID: SYN075
MIFTS: 43

Syngnathia

Categories: Fetal diseases, Rare diseases

Aliases & Classifications for Syngnathia

MalaCards integrated aliases for Syngnathia:

Name: Syngnathia 56 12
Cleft Palate-Lateral Synechia Syndrome 56 12 58 29 43 15 71
Cpls Syndrome 56 12 58
Cleft Palate Lateral Synechia Syndrome 52

Characteristics:

Orphanet epidemiological data:

58
cleft palate-lateral synechia syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal;

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
syngnathia:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0080313
OMIM 56 119550
MeSH 43 C563047
ICD10 32 Q87.8
ICD10 via Orphanet 33 Q87.8
UMLS via Orphanet 72 C0795898
Orphanet 58 ORPHA2016
MedGen 41 C0795898
UMLS 71 C0795898

Summaries for Syngnathia

OMIM : 56 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 popliteal pterygium syndrome and van der woude syndrome 1. An important gene associated with Syngnathia is IRF6 (Interferon Regulatory Factor 6), and among its related pathways/superpathways are Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers and Neural Crest Differentiation. Affiliated tissues include bone, tongue and heart, and related phenotypes are cleft palate and micrognathia

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

Wikipedia : 74 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 top 50) (show all 69)
# Related Disease Score Top Affiliating Genes
1 popliteal pterygium syndrome 32.6 MSX1 IRF6
2 van der woude syndrome 1 30.2 MSX1 IRF6 FGF8 BMP4
3 cleft lip/palate 30.0 MSX1 IRF6 BMP4
4 coloboma of macula 30.0 MSX1 FOXC1 FGF8 BMP4
5 cleft lip 29.9 MSX1 IRF6 FGF8 BMP4
6 hemifacial microsomia 29.8 MSX2 MSX1 FGF8 BMP4
7 hard palate cancer 29.4 MSX1 IRF6 FGF8 BMP4 BARX1
8 chromosome 2q35 duplication syndrome 28.7 MSX2 MSX1 IRF6 FGF8 DLX6 BMP4
9 cleft palate, isolated 28.6 MSX2 MSX1 IRF6 FGF8 DLX6 BMP4
10 syngnathia multiple anomalies 12.5
11 syngnathia cleft palate 12.4
12 isolated congenital syngnathia 12.2
13 dobrow syndrome 11.6
14 synostosis 10.3
15 choanal atresia, posterior 10.3
16 microcephaly 10.3
17 ankylosis 10.3
18 fryns syndrome 10.3
19 hydrocephalus 10.3
20 facial cleft 10.3 IRF6 ALX1
21 cleft lip and alveolus 10.3 MSX1 IRF6
22 isolated cleft lip 10.2 MSX1 IRF6
23 witkop syndrome 10.2 MSX1 BARX1
24 hypothyroidism, thyroidal or athyroidal, with spiky hair and cleft palate 10.2 MSX1 IRF6
25 rapp-hodgkin syndrome 10.2 IRF6 DLX6
26 ankyloglossia with or without tooth anomalies 10.1 MSX1 IRF6
27 chromosome 10q23 deletion syndrome 10.1 MSX1 BMP4
28 split-hand/foot malformation 1 with sensorineural hearing loss, autosomal recessive 10.1 FGF8 DLX6
29 ankyloblepharon-ectodermal defects-cleft lip/palate 10.1 IRF6 DLX6
30 treacher collins syndrome 1 10.0
31 myositis 10.0
32 optic nerve hypoplasia, bilateral 10.0
33 pectus excavatum 10.0
34 polykaryocytosis inducer 10.0
35 tracheoesophageal fistula with or without esophageal atresia 10.0
36 hypomelanosis of ito 10.0
37 fryns microphthalmia syndrome 10.0
38 branchiootic syndrome 1 10.0
39 brachydactyly 10.0
40 hypospadias 10.0
41 holoprosencephaly 10.0
42 myositis ossificans 10.0
43 situs inversus 10.0
44 dextrocardia 10.0
45 irf6-related disorders 10.0
46 temporomandibular ankylosis 10.0
47 obsolete: ito hypomelanosis 10.0
48 midline interhemispheric variant of holoprosencephaly 10.0
49 branchiooculofacial syndrome 10.0 MSX1 IRF6
50 cleft lip with or without cleft palate 10.0 MSX1 IRF6 BMP4

Graphical network of the top 20 diseases related to Syngnathia:



Diseases related to Syngnathia

Symptoms & Phenotypes for Syngnathia

Human phenotypes related to Syngnathia:

58 31 (show all 8)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cleft palate 58 31 hallmark (90%) Very frequent (99-80%) HP:0000175
2 micrognathia 58 31 frequent (33%) Frequent (79-30%) HP:0000347
3 everted lower lip vermilion 58 31 frequent (33%) Frequent (79-30%) HP:0000232
4 abnormality of the voice 58 31 frequent (33%) Frequent (79-30%) HP:0001608
5 oral synechia 58 31 frequent (33%) Frequent (79-30%) HP:0010285
6 full cheeks 58 31 occasional (7.5%) Occasional (29-5%) HP:0000293
7 narrow mouth 58 31 occasional (7.5%) Occasional (29-5%) HP:0000160
8 blepharophimosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000581

Symptoms via clinical synopsis from OMIM:

56
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:

45 (show all 16)
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 10.33 ALX1 BARX1 BMP4 DLX2 DLX6 FGF8
2 digestive/alimentary MP:0005381 10.31 ALX1 BARX1 BMP4 DLX2 DLX6 FGF8
3 growth/size/body region MP:0005378 10.27 ALX1 BARX1 BMP4 DLX2 DLX6 FGF8
4 embryo MP:0005380 10.22 ALX1 BMP4 DLX6 FGF8 FOXC1 HAND2
5 hearing/vestibular/ear MP:0005377 10.18 ALX1 BMP4 DLX2 DLX6 FGF8 HAND2
6 mortality/aging MP:0010768 10.18 ALX1 BARX1 BMP4 DLX2 DLX6 FGF8
7 limbs/digits/tail MP:0005371 10.13 ALX1 BMP4 DLX6 FGF8 FOXC1 HAND2
8 cardiovascular system MP:0005385 10.1 BMP4 DLX2 FGF8 FOXC1 HAND2 MSX1
9 endocrine/exocrine gland MP:0005379 10.05 BMP4 FGF8 FOXC1 HAND2 MSX1 MSX2
10 nervous system MP:0003631 10.02 ALX1 BMP4 DLX2 DLX6 FGF8 FOXC1
11 muscle MP:0005369 9.97 BMP4 DLX2 FGF8 FOXC1 HAND2 MSX1
12 integument MP:0010771 9.93 BMP4 DLX6 FOXC1 IRF6 MSX1 MSX2
13 normal MP:0002873 9.86 ALX1 BMP4 FGF8 FOXC1 HAND2 MSX1
14 respiratory system MP:0005388 9.76 ALX1 BMP4 DLX2 DLX6 FGF8 FOXC1
15 skeleton MP:0005390 9.7 ALX1 BMP4 DLX2 DLX6 FGF8 FOXC1
16 vision/eye MP:0005391 9.1 ALX1 BMP4 FGF8 FOXC1 MSX1 MSX2

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 29

Anatomical Context for Syngnathia

MalaCards organs/tissues related to Syngnathia:

40
Bone, Tongue, Heart, Brain, Skin, Thyroid

Publications for Syngnathia

Articles related to Syngnathia:

(show top 50) (show all 89)
# Title Authors PMID Year
1
Congenital unilateral maxillo-mandibulo-zygomatic fusion (syngnathia): a case report in an 8-year-old boy. 61 56
20097541 2010
2
Complete bony fusion of the mandible to the zygomatic complex and maxillary tuberosity: case report and review. 61 56
11289626 2001
3
Familial occurrence of syngnathia congenita syndrome. 61 56
421363 1979
4
Syngnathism in an infant born to consanguineous parents. 56
19725127 2009
5
Fusion of maxillary and mandibular alveolar process together with a median mandibular cleft: a rare congenital anomaly. 56
10342147 1999
6
Hypoglossia congenita with anterior maxillo-mandibular fusion. 56
8149059 1994
7
[Autosomal dominant inheritance of cleft palate and synechias between the palate and floor of the mouth or tongue]. 56
5052209 1972
8
Congenital syngnathia: review of clinical profile and proposal of a new classification-based management protocol. 61
31590998 2019
9
Congenital Unilateral Zygomatico-Maxillo-Mandibular Fusion. 61
30921067 2019
10
Crucial and Overlapping Roles of Six1 and Six2 in Craniofacial Development. 61
30905259 2019
11
Application of computer-assisted navigation in treating congenital maxillomandibular syngnathia: A case report. 61
30863765 2019
12
Syngnathia. 61
30106810 2018
13
Release of syngnathia by anticlockwise rotation and mandibular advancement using bilateral alloplastic temporomandibular joint prostheses: a new approach. 61
30139703 2018
14
[Congenital syngnathia]. 61
29519706 2018
15
Maxillomandibular Syngnathia: 3D Planning and Review of the Literature. 61
29892327 2018
16
Syngnathia-Congenital Maxillomandibular fusion: Case Report and Literature Review. 61
29447830 2018
17
Oral malformation with complete maxillomandibular bone fusion (Congenital Syngnathia). 61
29673683 2018
18
Congenital Synechia and Syngnathia: Two Case Reports. 61
29394978 2018
19
Popliteal Pterygium Syndrome With Syngnathia. 61
28468208 2017
20
Unilateral complex syngnathia of the maxilla, mandible, and zygomatic complex in a newborn baby. 61
27372233 2017
21
Congenital Syngnathia; Turmoils and Tragedy. 61
28083498 2017
22
Separate development of the maxilla and mandible is controlled by regional signaling of the maxillomandibular junction during avian development. 61
27756109 2017
23
Anesthesia-airway management in a newborn with syngnathia. 61
27687459 2016
24
Syngnathia Between the Palate and Mouth Floor, Cleft Palate, and Funnel Chest. 61
28005814 2016
25
Congenital bilateral syngnathia and tracheoesophageal fistula: A rare presentation. 61
27994431 2016
26
Isolated bony syngnathia. 61
26803438 2016
27
Complete Maxillo-Mandibular Syngnathia in a Newborn with Multiple Congenital Malformations. 61
23778189 2016
28
Correction of Unilateral Congenital Zygomatico-Mandibular Fusion. 61
26745197 2016
29
Congenital Bilateral Zygomatico-Maxillo-Mandibular Fusion Associated With Gum Fusion. 61
26703053 2016
30
Fiber optic intubation of a neonate with Syngnathia under local anesthesia and sedation. 61
27006567 2016
31
Postnatal Diagnosis of a Baby With Multiple Rare Congenital Anomalies Including Syngnathia, Brain Dysmorphism, and Skin Pigmentation. 61
25325328 2015
32
Isolated congenital maxillomandibular synechiae. 61
25957707 2015
33
Congenital intra-oral adhesions: a surgical approach to cleft palate lateral synechia syndrome. 61
25819497 2015
34
Nonsyndromic palate Synechia with floor of mouth. 61
26389045 2015
35
Congenital maxillomandibular syngnathia: a new management technique using distraction techniques. 61
25569423 2015
36
Journey to chew: a case of maxillary duplication and bony syngnathia. 61
25487671 2015
37
Mouse Models of Rare Craniofacial Disorders. 61
26589934 2015
38
Syngnathia and obstructive apnea in a case of popliteal pterygium syndrome. 61
25388409 2014
39
Bilateral maxillo-mandibular syngnathia in a newborn. 61
26023524 2014
40
Directed Bmp4 expression in neural crest cells generates a genetic model for the rare human bony syngnathia birth defect. 61
24785830 2014
41
Bilateral maxillo-mandibular syngnathia in a newborn. 61
25426216 2014
42
Van der Woude syndrome: report of two cases with supplementary findings. 61
24025891 2013
43
Prenatal diagnosis of congenital syngnathia by 3D ultrasound and pathological correlation. 61
27276933 2013
44
Cleft palate lateral synechia syndrome. 61
24163560 2013
45
Interaction between Foxc1 and Fgf8 during mammalian jaw patterning and in the pathogenesis of syngnathia. 61
24385915 2013
46
"Bochdalek's" skull: morphology report and reconstruction of face. 61
22918853 2012
47
Congenital maxillomandibular fusion: a report of three cases. 61
22658496 2012
48
Congenital zygomatico-mandibular fusion (pseudo-syngnathia?) in conjunction with unilateral anophthalmia: review of terminology and classification. 61
21438651 2012
49
A case of syngnathia, cleft palate and hypospadias: an isolated case or syndromic syngnathism? 61
21501960 2012
50
Atypical case of congenital maxillomandibular fusion with duplication of the craniofacial midline. 61
22655122 2011

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 11.46 MSX1 IRF6 BMP4
2 11.27 MSX2 MSX1 FGF8 BMP4
3 10.73 MSX1 FGF8
4 10.59 HAND2 FOXC1 FGF8 BMP4

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 9.65 NKX3-2 MSX2 MSX1 IRF6 HAND2 FOXC1
2 nuclear chromatin GO:0000790 9.32 NKX3-2 MSX2 MSX1 IRF6 HAND2 FOXC1

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

(show top 50) (show all 73)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of transcription by RNA polymerase II GO:0000122 10.08 NKX3-2 MSX2 MSX1 FOXC1 DLX2 BMP4
2 positive regulation of transcription, DNA-templated GO:0045893 10.07 IRF6 HAND2 FOXC1 BMP4 ALX1
3 cell differentiation GO:0030154 10.06 NKX3-2 IRF6 HAND2 FOXC1 FGF8 DLX6
4 multicellular organism development GO:0007275 10.06 MSX2 MSX1 HAND2 FOXC1 FGF8 DLX6
5 negative regulation of apoptotic process GO:0043066 10.04 NKX3-2 MSX2 MSX1 HAND2 FGF8 BMP4
6 negative regulation of transcription, DNA-templated GO:0045892 10.03 MSX2 MSX1 BMP4 ALX1
7 positive regulation of gene expression GO:0010628 10.02 HAND2 FOXC1 FGF8 BMP4
8 negative regulation of cell proliferation GO:0008285 10.01 MSX2 MSX1 IRF6 BMP4
9 heart development GO:0007507 9.96 MSX1 HAND2 FOXC1 FGF8 BMP4
10 regulation of transcription, DNA-templated GO:0006355 9.96 NKX3-2 MSX2 MSX1 IRF6 HAND2 FOXC1
11 angiogenesis GO:0001525 9.92 HAND2 FOXC1 BMP4
12 in utero embryonic development GO:0001701 9.92 MSX1 HAND2 FOXC1
13 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.92 HAND2 FGF8 BMP4
14 skeletal system development GO:0001501 9.92 NKX3-2 FOXC1 DLX6 BMP4
15 anterior/posterior pattern specification GO:0009952 9.89 MSX2 MSX1 BARX1 ALX1
16 kidney development GO:0001822 9.87 FOXC1 FGF8 BMP4
17 ossification GO:0001503 9.86 MSX2 FOXC1 BMP4
18 BMP signaling pathway GO:0030509 9.86 MSX2 MSX1 BMP4
19 cartilage development GO:0051216 9.85 MSX2 MSX1 DLX2 BMP4
20 embryonic digit morphogenesis GO:0042733 9.83 MSX2 MSX1 HAND2 BMP4
21 outflow tract morphogenesis GO:0003151 9.82 MSX2 FGF8 BMP4
22 positive regulation of cell differentiation GO:0045597 9.82 FGF8 DLX2 BMP4
23 positive regulation of epithelial to mesenchymal transition GO:0010718 9.81 FOXC1 BMP4 ALX1
24 embryonic skeletal system development GO:0048706 9.81 NKX3-2 DLX2 BMP4
25 heart morphogenesis GO:0003007 9.81 MSX1 HAND2 FOXC1 FGF8
26 positive regulation of BMP signaling pathway GO:0030513 9.79 MSX2 MSX1 BMP4
27 odontogenesis GO:0042476 9.78 MSX2 MSX1 FGF8 BMP4
28 outflow tract septum morphogenesis GO:0003148 9.77 MSX2 FGF8 BMP4
29 roof of mouth development GO:0060021 9.77 MSX1 IRF6 HAND2 DLX6 ALX1
30 embryonic morphogenesis GO:0048598 9.76 MSX2 MSX1 BMP4
31 branching involved in ureteric bud morphogenesis GO:0001658 9.75 FGF8 BMP4
32 signal transduction involved in regulation of gene expression GO:0023019 9.75 MSX2 MSX1 FGF8
33 ureteric bud development GO:0001657 9.74 FOXC1 BMP4
34 bone morphogenesis GO:0060349 9.74 MSX2 MSX1
35 protein localization to nucleus GO:0034504 9.74 MSX1 BMP4
36 metanephros development GO:0001656 9.74 FGF8 BMP4
37 embryonic cranial skeleton morphogenesis GO:0048701 9.74 DLX2 BMP4
38 spleen development GO:0048536 9.73 NKX3-2 BARX1
39 negative regulation of DNA binding GO:0043392 9.73 MSX1 HAND2
40 embryonic forelimb morphogenesis GO:0035115 9.73 MSX2 MSX1
41 stem cell differentiation GO:0048863 9.73 MSX2 MSX1
42 blood vessel remodeling GO:0001974 9.73 FOXC1 FGF8
43 embryonic hindlimb morphogenesis GO:0035116 9.73 MSX2 MSX1 FGF8 BMP4
44 pituitary gland development GO:0021983 9.72 MSX1 BMP4
45 telencephalon development GO:0021537 9.72 FGF8 BMP4
46 endochondral ossification GO:0001958 9.72 FOXC1 BMP4
47 neural crest cell development GO:0014032 9.72 HAND2 FOXC1
48 odontogenesis of dentin-containing tooth GO:0042475 9.72 MSX1 HAND2 FOXC1 DLX2 BMP4
49 lung morphogenesis GO:0060425 9.71 FGF8 BMP4
50 middle ear morphogenesis GO:0042474 9.71 NKX3-2 MSX1

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

# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 10.02 NKX3-2 MSX2 MSX1 IRF6 HAND2 FOXC1
2 DNA-binding transcription factor activity GO:0003700 9.91 NKX3-2 IRF6 FOXC1 DLX6 DLX2 BARX1
3 DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001228 9.8 MSX1 IRF6 HAND2 FOXC1 DLX2 BARX1
4 transcription regulatory region DNA binding GO:0044212 9.71 MSX2 IRF6 HAND2 FOXC1
5 RNA polymerase II regulatory region sequence-specific DNA binding GO:0000977 9.7 MSX2 MSX1 HAND2 FOXC1 DLX2 BARX1
6 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.65 NKX3-2 MSX2 MSX1 IRF6 HAND2 FOXC1
7 chemoattractant activity GO:0042056 9.43 FGF8 BMP4
8 sequence-specific DNA binding GO:0043565 9.32 NKX3-2 MSX2 MSX1 IRF6 HAND2 FOXC1

Sources for Syngnathia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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