MCID: SYN075
MIFTS: 48

Syngnathia

Categories: Fetal diseases, Rare diseases

Aliases & Classifications for Syngnathia

MalaCards integrated aliases for Syngnathia:

Name: Syngnathia 57 12
Cleft Palate-Lateral Synechia Syndrome 57 12 59 29 44 15 73
Cpls Syndrome 57 12 59
Cleft Palate Lateral Synechia Syndrome 53

Characteristics:

Orphanet epidemiological data:

59
cleft palate-lateral synechia syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal;

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
syngnathia:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 119550
Disease Ontology 12 DOID:0080313
ICD10 33 Q87.8
MeSH 44 C563047
Orphanet 59 ORPHA2016
UMLS via Orphanet 74 C0795898
ICD10 via Orphanet 34 Q87.8
MedGen 42 C0795898
UMLS 73 C0795898

Summaries for Syngnathia

OMIM : 57 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 van der woude syndrome 1 and cleft palate, isolated. 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 full cheeks and cleft palate

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

Wikipedia : 76 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 36)
# Related Disease Score Top Affiliating Genes
1 van der woude syndrome 1 30.0 SATB2 IRF6
2 cleft palate, isolated 29.8 SATB2 MSX1 IRF6 FOXC2 BMP4
3 syngnathia multiple anomalies 12.3
4 syngnathia cleft palate 12.3
5 isolated congenital syngnathia 12.0
6 popliteal pterygium syndrome 11.5
7 dobrow syndrome 11.4
8 fryns syndrome 10.3
9 cleft lip and alveolus 10.1 MSX1 IRF6
10 ankyloglossia 10.1 IRF6 FOXC2
11 isolated cleft lip 10.1 MSX1 IRF6
12 microcephaly 10.1
13 hard palate cancer 10.1 MSX1 BARX1
14 distichiasis 10.1 FOXC2 FOXC1
15 hereditary lymphedema 10.1 FOXC2 FOXC1
16 axenfeld-rieger syndrome, type 1 10.1 FGF8 BMP4
17 split-hand/foot malformation 2 10.0 FGF8 DLX2
18 hypothyroidism, thyroidal or athyroidal, with spiky hair and cleft palate 10.0 MSX1 DLX2
19 cleft lip 10.0 MSX1 IRF6 BMP4
20 tooth size 10.0 MSX1 FGF8 BMP4
21 cleft palate with or without ankyloglossia, x-linked 10.0 MSX1 FGF8 BMP4
22 cleft lip/palate 10.0 MSX1 IRF6 BMP4
23 agnathia-otocephaly complex 10.0 MSX1 FGF8 BMP4
24 fryns microphthalmia syndrome 10.0
25 choanal atresia, posterior 10.0
26 brachydactyly 10.0
27 hypospadias 10.0
28 ankylosis 10.0
29 tracheoesophageal fistula 10.0
30 lymphedema, hereditary, ii 10.0 FOXC2 FOXC1
31 thrombocytopenia-absent radius syndrome 9.9 SATB2 FGF8
32 split-hand/foot malformation 4 9.9 SATB2 DLX2
33 lacrimoauriculodentodigital syndrome 9.8 SATB2 FGF8
34 physical disorder 9.7 SATB2 MSX1 IRF6 FGF8 BMP4
35 tooth agenesis 9.6 SATB2 MSX1 IRF6 DLX2 BMP4
36 orofacial cleft 9.5 SATB2 MSX1 IRF6 FGF8 DLX2 BMP4

Graphical network of the top 20 diseases related to Syngnathia:



Diseases related to Syngnathia

Symptoms & Phenotypes for Syngnathia

Symptoms via clinical synopsis from OMIM:

57
Mouth:
cleft palate
lateral synechia
cord-like adhesions between tongue and floor of mouth


Clinical features from OMIM:

119550

Human phenotypes related to Syngnathia:

59 32 (show all 8)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 full cheeks 59 32 occasional (7.5%) Occasional (29-5%) HP:0000293
2 cleft palate 59 32 hallmark (90%) Very frequent (99-80%) HP:0000175
3 micrognathia 59 32 frequent (33%) Frequent (79-30%) HP:0000347
4 everted lower lip vermilion 59 32 frequent (33%) Frequent (79-30%) HP:0000232
5 abnormality of the voice 59 32 frequent (33%) Frequent (79-30%) HP:0001608
6 narrow mouth 59 32 occasional (7.5%) Occasional (29-5%) HP:0000160
7 blepharophimosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000581
8 oral synechia 59 32 frequent (33%) Frequent (79-30%) HP:0010285

MGI Mouse Phenotypes related to Syngnathia:

46 (show all 16)
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 10.28 BARX1 BMP4 CHL1 DLX2 FGF8 FOXC1
2 digestive/alimentary MP:0005381 10.22 BARX1 BMP4 DLX2 FGF8 FOXC1 FOXC2
3 growth/size/body region MP:0005378 10.22 BARX1 BMP4 CHL1 DLX2 FGF8 FOXC1
4 cardiovascular system MP:0005385 10.16 BMP4 DLX2 FGF8 FOXC1 FOXC2 HAND2
5 embryo MP:0005380 10.11 BMP4 FGF8 FOXC1 FOXC2 HAND2 IRF6
6 cellular MP:0005384 10.09 BARX1 BMP4 FGF8 FOXC1 HAND2 IRF6
7 mortality/aging MP:0010768 10.07 BARX1 BMP4 DLX2 FGF8 FOXC1 FOXC2
8 hearing/vestibular/ear MP:0005377 10 BMP4 DLX2 FGF8 FOXC2 HAND2 IRF6
9 limbs/digits/tail MP:0005371 9.98 BMP4 FGF8 FOXC1 HAND2 IRF6 MSX1
10 endocrine/exocrine gland MP:0005379 9.97 BMP4 FGF8 FOXC1 HAND2 MSX1 SATB2
11 nervous system MP:0003631 9.91 BMP4 CHL1 DLX2 FGF8 FOXC1 FOXC2
12 muscle MP:0005369 9.87 BMP4 DLX2 FGF8 FOXC1 FOXC2 HAND2
13 liver/biliary system MP:0005370 9.8 BMP4 FOXC1 FOXC2 HAND2 MSX1
14 normal MP:0002873 9.63 BMP4 FGF8 FOXC1 FOXC2 HAND2 MSX1
15 respiratory system MP:0005388 9.56 BMP4 CHL1 DLX2 FGF8 FOXC1 FOXC2
16 skeleton MP:0005390 9.28 BMP4 DLX2 FGF8 FOXC1 FOXC2 HAND2

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:

41
Tongue, Skin, Brain, Bone, Thyroid

Publications for Syngnathia

Articles related to Syngnathia:

(show top 50) (show all 54)
# Title Authors Year
1
Oral malformation with complete maxillomandibular bone fusion (Congenital Syngnathia). ( 29673683 )
2018
2
Syngnathia-Congenital Maxillomandibular fusion: Case Report and Literature Review. ( 29447830 )
2018
3
Maxillomandibular Syngnathia: 3D Planning and Review of the Literature. ( 29892327 )
2018
4
Congenital Synechia and Syngnathia: Two Case Reports. ( 29394978 )
2018
5
Syngnathia. ( 30106810 )
2018
6
Release of syngnathia by anticlockwise rotation and mandibular advancement using bilateral alloplastic temporomandibular joint prostheses: a new approach. ( 30139703 )
2018
7
Congenital Syngnathia; Turmoils and Tragedy. ( 28083498 )
2017
8
Popliteal Pterygium Syndrome With Syngnathia. ( 28468208 )
2017
9
Complete Maxillo-Mandibular Syngnathia in a Newborn with Multiple Congenital Malformations. ( 23778189 )
2016
10
Fiber optic intubation of a neonate with Syngnathia under local anesthesia and sedation. ( 27006567 )
2016
11
Anesthesia-airway management in a newborn with syngnathia. ( 27687459 )
2016
12
Isolated bony syngnathia. ( 26803438 )
2016
13
Congenital bilateral syngnathia and tracheoesophageal fistula: A rare presentation. ( 27994431 )
2016
14
Syngnathia Between the Palate and Mouth Floor, Cleft Palate, and Funnel Chest. ( 28005814 )
2016
15
Unilateral complex syngnathia of the maxilla, mandible, and zygomatic complex in a newborn baby. ( 27372233 )
2016
16
Congenital maxillomandibular syngnathia: a new management technique using distraction techniques. ( 25569423 )
2015
17
Journey to chew: a case of maxillary duplication and bony syngnathia. ( 25487671 )
2015
18
Congenital intra-oral adhesions: A surgical approach to cleft palate lateral synechia syndrome. ( 25819497 )
2015
19
Postnatal Diagnosis of a Baby With Multiple Rare Congenital Anomalies Including Syngnathia, Brain Dysmorphism, and Skin Pigmentation. ( 25325328 )
2015
20
Bilateral maxillo-mandibular syngnathia in a newborn. ( 25426216 )
2014
21
Directed Bmp4 expression in neural crest cells generates a genetic model for the rare human bony syngnathia birth defect. ( 24785830 )
2014
22
Syngnathia and obstructive apnea in a case of popliteal pterygium syndrome. ( 25388409 )
2014
23
Bilateral maxillo-mandibular syngnathia in a newborn. ( 26023524 )
2014
24
Prenatal diagnosis of congenital syngnathia by 3D ultrasound and pathological correlation. ( 27276933 )
2013
25
Cleft palate lateral synechia syndrome. ( 24163560 )
2013
26
Interaction between Foxc1 and Fgf8 during mammalian jaw patterning and in the pathogenesis of syngnathia. ( 24385915 )
2013
27
A case of syngnathia, cleft palate and hypospadias: an isolated case or syndromic syngnathism? ( 21501960 )
2012
28
Congenital zygomatico-mandibular fusion (pseudo-syngnathia?) in conjunction with unilateral anophthalmia: review of terminology and classification. ( 21438651 )
2012
29
Congenital fusion of the maxilla and mandible (congenital bony syngnathia). ( 20537862 )
2010
30
Choanal atresia, syngnathia, brachydactyly, mental retardation and short stature: an X-linked syndrome? ( 19730370 )
2010
31
Congenital bony syngnathia with unilateral palatal shelf and soft palate agenesis. ( 20856069 )
2010
32
Congenital unilateral maxillo-mandibulo-zygomatic fusion (syngnathia): a case report in an 8-year-old boy. ( 20097541 )
2010
33
Congenital syngnathia: case report and review of literature. ( 20500072 )
2010
34
Cleft palate lateral synechia syndrome: an opportunity for unique surgical closure. ( 19368978 )
2009
35
Congenital maxillomandibular syngnathia: case report. ( 19231229 )
2009
36
"Bochdalek" skull (syngnathia): CT examination. ( 20196476 )
2009
37
Popliteal pterygium syndrome (PPS) with intra-alveolar syngnathia: a discussion of anesthetic and surgical considerations. ( 17651819 )
2007
38
Complete bony syngnathia: Report of a case and review. ( 17309989 )
2007
39
Bony syngnathia, vertebral segmentation defect, coloboma, microcephaly and mental retardation: confirmation of Dobrow syndrome and review of syndromal syngnathias. ( 15365455 )
2004
40
Acquired syngnathia. ( 15336772 )
2004
41
Cleft-palate lateral synechia syndrome: insight into the phenotypic spectrum of Fryns syndrome? ( 12962292 )
2003
42
Syngnathia and Van der Woude syndrome: a case report and literature review. ( 12498614 )
2003
43
Popliteal pterygium syndrome with syngnathia. ( 12535046 )
2003
44
Cleft palate lateral synechia syndrome. ( 11604632 )
2001
45
Complete congenital bony syngnathia in a case of oromandibular limb hypogenesis syndrome. ( 11314391 )
2000
46
Congenital bony syngnathia: a proposed classification. ( 9138509 )
1997
47
Congenital oral adhesion (syngnathia) with total cleft palate in a Nigerian child. ( 8547298 )
1995
48
Syngnathia: a report of two cases. ( 8280738 )
1993
49
[Source studies on the etiology, diagnosis and treatment of TMJ ankylosis and syngnathia. 1. From classical antiquity to mid-19th century]. ( 1816952 )
1991
50
Cleft palate lateral synechia syndrome. Review of the literature and case report. ( 2682426 )
1989

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 68)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of gene expression GO:0010628 9.99 BMP4 FGF8 FOXC1 HAND2
2 positive regulation of transcription by RNA polymerase II GO:0045944 9.97 BARX1 BMP4 DLX2 FOXC1 FOXC2 HAND2
3 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.91 BMP4 FGF8 HAND2
4 multicellular organism development GO:0007275 9.91 BMP4 CHL1 DLX2 FGF8 FOXC1 FOXC2
5 angiogenesis GO:0001525 9.9 BMP4 FOXC1 HAND2
6 in utero embryonic development GO:0001701 9.9 FOXC1 HAND2 MSX1
7 skeletal system development GO:0001501 9.87 BMP4 FOXC1 FOXC2
8 anatomical structure morphogenesis GO:0009653 9.86 FGF8 FOXC1 FOXC2
9 ossification GO:0001503 9.85 BMP4 FOXC1 FOXC2
10 heart development GO:0007507 9.85 BMP4 FGF8 FOXC1 FOXC2 HAND2 MSX1
11 BMP signaling pathway GO:0030509 9.84 BMP4 FGF8 MSX1
12 camera-type eye development GO:0043010 9.82 BMP4 FOXC1 FOXC2
13 roof of mouth development GO:0060021 9.81 HAND2 MSX1 SATB2
14 kidney development GO:0001822 9.81 BMP4 FGF8 FOXC1 FOXC2
15 embryonic digit morphogenesis GO:0042733 9.8 BMP4 HAND2 MSX1
16 blood vessel development GO:0001568 9.79 BMP4 FOXC1 FOXC2
17 embryonic skeletal system morphogenesis GO:0048704 9.79 BMP4 FOXC2 SATB2
18 positive regulation of cell differentiation GO:0045597 9.78 BMP4 DLX2 FGF8
19 ureteric bud development GO:0001657 9.77 BMP4 FOXC1 FOXC2
20 embryonic cranial skeleton morphogenesis GO:0048701 9.76 BMP4 DLX2 FOXC2
21 cartilage development GO:0051216 9.76 BMP4 DLX2 MSX1 SATB2
22 metanephros development GO:0001656 9.75 BMP4 FGF8 FOXC2
23 positive regulation of endothelial cell migration GO:0010595 9.74 BMP4 FOXC2
24 positive chemotaxis GO:0050918 9.74 BMP4 FGF8
25 collagen fibril organization GO:0030199 9.74 FOXC1 FOXC2
26 positive regulation of epithelial to mesenchymal transition GO:0010718 9.74 BMP4 FOXC1
27 branching involved in ureteric bud morphogenesis GO:0001658 9.73 BMP4 FGF8
28 embryonic skeletal system development GO:0048706 9.73 BMP4 DLX2
29 positive regulation of BMP signaling pathway GO:0030513 9.73 BMP4 MSX1
30 protein localization to nucleus GO:0034504 9.73 BMP4 MSX1
31 odontogenesis GO:0042476 9.73 BMP4 FGF8 MSX1
32 negative regulation of DNA binding GO:0043392 9.72 HAND2 MSX1
33 pituitary gland development GO:0021983 9.72 BMP4 MSX1
34 telencephalon development GO:0021537 9.72 BMP4 FGF8
35 branching involved in blood vessel morphogenesis GO:0001569 9.71 FGF8 FOXC2
36 outflow tract septum morphogenesis GO:0003148 9.71 BMP4 FGF8
37 endochondral ossification GO:0001958 9.71 BMP4 FOXC1
38 ventricular cardiac muscle tissue morphogenesis GO:0055010 9.71 FOXC1 FOXC2
39 artery morphogenesis GO:0048844 9.71 FOXC1 FOXC2
40 blood vessel remodeling GO:0001974 9.71 FGF8 FOXC1 FOXC2
41 tissue development GO:0009888 9.7 BARX1 BMP4
42 lung morphogenesis GO:0060425 9.7 BMP4 FGF8
43 signal transduction involved in regulation of gene expression GO:0023019 9.7 FGF8 MSX1
44 embryonic hindlimb morphogenesis GO:0035116 9.7 BMP4 FGF8 MSX1
45 regulation of blood vessel size GO:0050880 9.69 FOXC1 FOXC2
46 cardiac muscle cell proliferation GO:0060038 9.69 FOXC1 FOXC2
47 mesonephros development GO:0001823 9.68 BMP4 FGF8
48 lymph vessel development GO:0001945 9.68 FOXC1 FOXC2
49 organ induction GO:0001759 9.68 BMP4 FGF8
50 regulation of organ growth GO:0046620 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 9.92 BARX1 DLX2 FOXC1 FOXC2 HAND2 IRF6
2 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.86 BARX1 DLX2 FOXC1 FOXC2 HAND2 IRF6
3 DNA-binding transcription factor activity GO:0003700 9.8 BARX1 DLX2 FOXC1 FOXC2 IRF6
4 transcription regulatory region DNA binding GO:0044212 9.67 FOXC1 FOXC2 HAND2 IRF6
5 DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001228 9.63 BARX1 DLX2 FOXC1 FOXC2 IRF6 MSX1
6 sequence-specific DNA binding GO:0043565 9.56 BARX1 DLX2 FOXC1 FOXC2 HAND2 IRF6
7 promoter-specific chromatin binding GO:1990841 9.46 FOXC1 FOXC2
8 chemoattractant activity GO:0042056 9.43 BMP4 FGF8
9 RNA polymerase II regulatory region sequence-specific DNA binding GO:0000977 9.17 BARX1 DLX2 FOXC1 FOXC2 HAND2 MSX1

Sources for Syngnathia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....