MCID: SYN075
MIFTS: 43

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 58 29 44 15 70
Cpls Syndrome 57 12 58
Cleft Palate Lateral Synechia Syndrome 20

Characteristics:

Orphanet epidemiological data:

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

OMIM®:

57 (Updated 20-May-2021)
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® 57 119550
MeSH 44 C563047
SNOMED-CT 67 403772000
ICD10 via Orphanet 33 Q87.8
UMLS via Orphanet 71 C0795898
Orphanet 58 ORPHA2016
MedGen 41 C0795898
UMLS 70 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) (Updated 20-May-2021)

MalaCards based summary : Syngnathia, also known as cleft palate-lateral synechia syndrome, is related to popliteal pterygium syndrome and hemifacial microsomia. 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 tongue, heart and bone, and related phenotypes are cleft palate and everted lower lip vermilion

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

Wikipedia : 73 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 31.8 MSX1 IRF6
2 hemifacial microsomia 30.0 MSX1 FGF8
3 van der woude syndrome 1 29.9 MSX1 IRF6 FGF8 BMP4
4 cleft lip 29.9 MSX1 IRF6 BMP4
5 coloboma of macula 29.9 FOXC1 FGF8 BMP4
6 cleft lip/palate 29.7 MSX1 IRF6 BMP4
7 holoprosencephaly 29.1 MSX1 FGF8 DLX2 BMP4
8 cleft palate, isolated 28.9 MSX1 IRF6 FGF8 DLX6 BMP4 BARX1
9 chromosome 2q35 duplication syndrome 28.5 MSX1 IRF6 HAND2 FGF8 DLX6 BMP4
10 syngnathia multiple anomalies 11.3
11 syngnathia cleft palate 11.2
12 dobrow syndrome 11.0
13 isolated congenital syngnathia 10.9
14 fryns syndrome 10.2
15 hydrocephalus 10.2
16 synostosis 10.2
17 cleft lip and alveolus 10.2 MSX1 IRF6
18 isolated cleft lip 10.1 MSX1 IRF6
19 orofacial cleft 8 10.1 IRF6 DLX6
20 hypothyroidism, thyroidal or athyroidal, with spiky hair and cleft palate 10.1 MSX1 IRF6
21 witkop syndrome 10.1 MSX1 BARX1
22 widow's peak 10.1 ALX3 ALX1
23 cleft lip/palate-ectodermal dysplasia syndrome 10.1 IRF6 FGF8
24 split-hand/foot malformation 1 with sensorineural hearing loss, autosomal recessive 10.1 FGF8 DLX6
25 choanal atresia, posterior 10.1
26 ankylosis 10.1
27 ankyloglossia with or without tooth anomalies 10.0 MSX1 IRF6 BARX1
28 vesicoureteral reflux 1 10.0 FOXC1 FGF8 BMP4
29 microcephaly 10.0
30 facial cleft 10.0 IRF6 ALX3 ALX1
31 branchiooculofacial syndrome 10.0 MSX1 IRF6 BMP4
32 tooth size 10.0 MSX1 FGF8 BMP4
33 cleft lip with or without cleft palate 10.0 MSX1 IRF6 BMP4
34 craniofrontonasal syndrome 10.0 ALX3 ALX1
35 chromosome 10q23 deletion syndrome 9.9 MSX1 BMP4 ALX3
36 stickler syndrome 9.9 MSX1 IRF6 BMP4
37 crouzon syndrome 9.9 MSX1 FGF8 BMP4
38 agnathia-otocephaly complex 9.9 NKX3-2 FGF8 DLX6
39 treacher collins syndrome 1 9.8
40 myositis 9.8
41 optic nerve hypoplasia, bilateral 9.8
42 pectus excavatum 9.8
43 polykaryocytosis inducer 9.8
44 tracheoesophageal fistula with or without esophageal atresia 9.8
45 hypomelanosis of ito 9.8
46 fryns microphthalmia syndrome 9.8
47 branchiootic syndrome 1 9.8
48 brachydactyly 9.8
49 hypospadias 9.8
50 myositis ossificans 9.8

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 everted lower lip vermilion 58 31 frequent (33%) Frequent (79-30%) HP:0000232
3 micrognathia 58 31 frequent (33%) Frequent (79-30%) HP:0000347
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®:

57 (Updated 20-May-2021)
Mouth:
cleft palate
lateral synechia
cord-like adhesions between tongue and floor of mouth

Clinical features from OMIM®:

119550 (Updated 20-May-2021)

MGI Mouse Phenotypes related to Syngnathia:

46 (show all 14)
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 10.3 ALX1 ALX3 BARX1 BMP4 DLX2 DLX6
2 digestive/alimentary MP:0005381 10.29 ALX1 ALX3 BARX1 BMP4 DLX2 DLX6
3 growth/size/body region MP:0005378 10.23 ALX1 ALX3 BARX1 BMP4 DLX2 DLX6
4 embryo MP:0005380 10.19 ALX1 ALX3 BMP4 DLX6 FGF8 FOXC1
5 mortality/aging MP:0010768 10.15 ALX1 ALX3 BARX1 BMP4 DLX2 DLX6
6 cellular MP:0005384 10.14 ALX3 BARX1 BMP4 FGF8 FOXC1 HAND2
7 limbs/digits/tail MP:0005371 10.1 ALX1 ALX3 BMP4 DLX6 FGF8 FOXC1
8 hearing/vestibular/ear MP:0005377 10.09 ALX1 BMP4 DLX2 DLX6 FGF8 HAND2
9 endocrine/exocrine gland MP:0005379 10.02 ALX3 BMP4 FGF8 FOXC1 HAND2 MSX1
10 nervous system MP:0003631 9.96 ALX1 ALX3 BMP4 DLX2 DLX6 FGF8
11 muscle MP:0005369 9.87 BMP4 DLX2 FGF8 FOXC1 HAND2 MSX1
12 normal MP:0002873 9.7 ALX1 BMP4 FGF8 FOXC1 HAND2 MSX1
13 respiratory system MP:0005388 9.61 ALX1 ALX3 BMP4 DLX2 DLX6 FGF8
14 skeleton MP:0005390 9.36 ALX1 ALX3 BMP4 DLX2 DLX6 FGF8

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
Tongue, Heart, Bone, Brain, Skin

Publications for Syngnathia

Articles related to Syngnathia:

(show top 50) (show all 93)
# Title Authors PMID Year
1
Congenital unilateral maxillo-mandibulo-zygomatic fusion (syngnathia): a case report in an 8-year-old boy. 61 57
20097541 2010
2
Complete bony fusion of the mandible to the zygomatic complex and maxillary tuberosity: case report and review. 57 61
11289626 2001
3
Familial occurrence of syngnathia congenita syndrome. 57 61
421363 1979
4
Syngnathism in an infant born to consanguineous parents. 57
19725127 2009
5
Fusion of maxillary and mandibular alveolar process together with a median mandibular cleft: a rare congenital anomaly. 57
10342147 1999
6
Hypoglossia congenita with anterior maxillo-mandibular fusion. 57
8149059 1994
7
[Autosomal dominant inheritance of cleft palate and synechias between the palate and floor of the mouth or tongue]. 57
5052209 1972
8
Congenital Maxillomandibular Syngnathia: Review of Literature and Proposed New Classification System. 61
33584038 2021
9
Congenital Isolated Bilateral Soft Tissue Syngnathia In A 4-Day Old Baby Boy. 61
33774975 2021
10
Vertical Distraction for the Treatment of Congenital Syngnathia. 61
32604303 2020
11
Syngnathia in Spectrum of Oromandibular Limb Hypogenesis Syndrome. 61
32168129 2020
12
Congenital syngnathia: review of clinical profile and proposal of a new classification-based management protocol. 61
31590998 2020
13
Congenital Unilateral Zygomatico-Maxillo-Mandibular Fusion. 61
30921067 2019
14
Crucial and Overlapping Roles of Six1 and Six2 in Craniofacial Development. 61
30905259 2019
15
Application of computer-assisted navigation in treating congenital maxillomandibular syngnathia: A case report. 61
30863765 2019
16
Release of syngnathia by anticlockwise rotation and mandibular advancement using bilateral alloplastic temporomandibular joint prostheses: a new approach. 61
30139703 2018
17
Syngnathia. 61
30106810 2018
18
Maxillomandibular Syngnathia: 3D Planning and Review of the Literature. 61
29892327 2018
19
[Congenital syngnathia]. 61
29519706 2018
20
Syngnathia-Congenital Maxillomandibular fusion: Case Report and Literature Review. 61
29447830 2018
21
Oral malformation with complete maxillomandibular bone fusion (Congenital Syngnathia). 61
29673683 2018
22
Congenital Synechia and Syngnathia: Two Case Reports. 61
29394978 2018
23
Popliteal Pterygium Syndrome With Syngnathia. 61
28468208 2017
24
Unilateral complex syngnathia of the maxilla, mandible, and zygomatic complex in a newborn baby. 61
27372233 2017
25
Separate development of the maxilla and mandible is controlled by regional signaling of the maxillomandibular junction during avian development. 61
27756109 2017
26
Congenital Syngnathia; Turmoils and Tragedy. 61
28083498 2017
27
Anesthesia-airway management in a newborn with syngnathia. 61
27687459 2016
28
Syngnathia Between the Palate and Mouth Floor, Cleft Palate, and Funnel Chest. 61
28005814 2016
29
Congenital bilateral syngnathia and tracheoesophageal fistula: A rare presentation. 61
27994431 2016
30
Isolated bony syngnathia. 61
26803438 2016
31
Complete Maxillo-Mandibular Syngnathia in a Newborn with Multiple Congenital Malformations. 61
23778189 2016
32
Congenital Bilateral Zygomatico-Maxillo-Mandibular Fusion Associated With Gum Fusion. 61
26703053 2016
33
Fiber optic intubation of a neonate with Syngnathia under local anesthesia and sedation. 61
27006567 2016
34
Correction of Unilateral Congenital Zygomatico-Mandibular Fusion. 61
26745197 2016
35
Postnatal Diagnosis of a Baby With Multiple Rare Congenital Anomalies Including Syngnathia, Brain Dysmorphism, and Skin Pigmentation. 61
25325328 2015
36
Isolated congenital maxillomandibular synechiae. 61
25957707 2015
37
Congenital intra-oral adhesions: a surgical approach to cleft palate lateral synechia syndrome. 61
25819497 2015
38
Nonsyndromic palate Synechia with floor of mouth. 61
26389045 2015
39
Journey to chew: a case of maxillary duplication and bony syngnathia. 61
25487671 2015
40
Congenital maxillomandibular syngnathia: a new management technique using distraction techniques. 61
25569423 2015
41
Mouse Models of Rare Craniofacial Disorders. 61
26589934 2015
42
Syngnathia and obstructive apnea in a case of popliteal pterygium syndrome. 61
25388409 2014
43
Bilateral maxillo-mandibular syngnathia in a newborn. 61
26023524 2014
44
Directed Bmp4 expression in neural crest cells generates a genetic model for the rare human bony syngnathia birth defect. 61
24785830 2014
45
Bilateral maxillo-mandibular syngnathia in a newborn. 61
25426216 2014
46
Van der Woude syndrome: report of two cases with supplementary findings. 61
24025891 2013
47
Prenatal diagnosis of congenital syngnathia by 3D ultrasound and pathological correlation. 61
27276933 2013
48
Cleft palate lateral synechia syndrome. 61
24163560 2013
49
Interaction between Foxc1 and Fgf8 during mammalian jaw patterning and in the pathogenesis of syngnathia. 61
24385915 2013
50
"Bochdalek's" skull: morphology report and reconstruction of face. 61
22918853 2012

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 11.14 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 MSX1 IRF6 HAND2 FOXC1 DLX6
2 chromatin GO:0000785 9.32 NKX3-2 MSX1 IRF6 HAND2 FOXC1 DLX6

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

(show top 50) (show all 61)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription, DNA-templated GO:0045893 10.05 IRF6 HAND2 FOXC1 BMP4 ALX1
2 positive regulation of transcription by RNA polymerase II GO:0045944 10.04 MSX1 IRF6 HAND2 FOXC1 DLX2 BMP4
3 negative regulation of transcription by RNA polymerase II GO:0000122 10.03 NKX3-2 MSX1 FOXC1 DLX2 BMP4 ALX1
4 negative regulation of apoptotic process GO:0043066 10.02 NKX3-2 MSX1 HAND2 FGF8 BMP4
5 positive regulation of gene expression GO:0010628 9.99 HAND2 FOXC1 FGF8 BMP4
6 cell differentiation GO:0030154 9.97 NKX3-2 IRF6 HAND2 FOXC1 FGF8 DLX6
7 multicellular organism development GO:0007275 9.91 MSX1 HAND2 FOXC1 FGF8 DLX6 DLX2
8 angiogenesis GO:0001525 9.9 HAND2 FOXC1 BMP4
9 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.9 HAND2 FGF8 BMP4
10 in utero embryonic development GO:0001701 9.89 MSX1 HAND2 FOXC1
11 heart development GO:0007507 9.88 MSX1 HAND2 FOXC1 FGF8 BMP4
12 regulation of transcription by RNA polymerase II GO:0006357 9.85 NKX3-2 MSX1 IRF6 HAND2 FOXC1 DLX6
13 kidney development GO:0001822 9.84 FOXC1 FGF8 BMP4
14 cartilage development GO:0051216 9.81 MSX1 DLX2 BMP4
15 skeletal system development GO:0001501 9.81 NKX3-2 FOXC1 DLX6 BMP4
16 embryonic digit morphogenesis GO:0042733 9.77 MSX1 HAND2 BMP4
17 embryonic skeletal system morphogenesis GO:0048704 9.77 BMP4 ALX3 ALX1
18 embryonic limb morphogenesis GO:0030326 9.76 MSX1 DLX6 BMP4
19 positive regulation of epithelial to mesenchymal transition GO:0010718 9.75 FOXC1 BMP4 ALX1
20 positive regulation of cell differentiation GO:0045597 9.74 FGF8 DLX2 BMP4
21 tissue development GO:0009888 9.73 BMP4 BARX1
22 branching involved in ureteric bud morphogenesis GO:0001658 9.73 FGF8 BMP4
23 roof of mouth development GO:0060021 9.73 MSX1 IRF6 HAND2 DLX6
24 ureteric bud development GO:0001657 9.72 FOXC1 BMP4
25 positive regulation of BMP signaling pathway GO:0030513 9.72 MSX1 BMP4
26 blood vessel remodeling GO:0001974 9.72 FOXC1 FGF8
27 embryonic skeletal system development GO:0048706 9.72 NKX3-2 DLX2 BMP4
28 spleen development GO:0048536 9.71 NKX3-2 BARX1
29 protein localization to nucleus GO:0034504 9.71 MSX1 BMP4
30 metanephros development GO:0001656 9.71 FGF8 BMP4
31 negative regulation of DNA binding GO:0043392 9.71 MSX1 HAND2
32 embryonic forelimb morphogenesis GO:0035115 9.71 MSX1 ALX3
33 odontogenesis GO:0042476 9.71 MSX1 FGF8 BMP4
34 heart morphogenesis GO:0003007 9.71 MSX1 HAND2 FOXC1 FGF8
35 endochondral ossification GO:0001958 9.7 FOXC1 BMP4
36 pituitary gland development GO:0021983 9.7 MSX1 BMP4
37 telencephalon development GO:0021537 9.7 FGF8 BMP4
38 outflow tract septum morphogenesis GO:0003148 9.7 FGF8 BMP4
39 embryonic cranial skeleton morphogenesis GO:0048701 9.7 DLX2 BMP4 ALX3
40 neural crest cell development GO:0014032 9.69 HAND2 FOXC1
41 animal organ development GO:0048513 9.69 NKX3-2 BARX1
42 negative regulation of chondrocyte differentiation GO:0032331 9.68 NKX3-2 BMP4
43 lung morphogenesis GO:0060425 9.68 FGF8 BMP4
44 embryonic morphogenesis GO:0048598 9.68 MSX1 BMP4
45 middle ear morphogenesis GO:0042474 9.68 NKX3-2 MSX1
46 signal transduction involved in regulation of gene expression GO:0023019 9.67 MSX1 FGF8
47 anatomical structure formation involved in morphogenesis GO:0048646 9.67 DLX6 BMP4
48 embryonic heart tube development GO:0035050 9.66 FOXC1 FGF8
49 embryo development GO:0009790 9.66 DLX6 DLX2
50 mesonephros development GO:0001823 9.65 FGF8 BMP4

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

# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 9.96 NKX3-2 MSX1 IRF6 HAND2 FOXC1 DLX6
2 DNA-binding transcription factor activity GO:0003700 9.85 IRF6 FOXC1 DLX6 DLX2 BARX1 ALX1
3 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.83 NKX3-2 IRF6 FOXC1 DLX6 DLX2
4 DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001228 9.8 MSX1 IRF6 HAND2 FOXC1 DLX2 ALX1
5 sequence-specific DNA binding GO:0043565 9.71 MSX1 IRF6 HAND2 FOXC1
6 RNA polymerase II regulatory region sequence-specific DNA binding GO:0000977 9.7 MSX1 HAND2 FOXC1 DLX2 BARX1 ALX3
7 transcription regulatory region sequence-specific DNA binding GO:0000976 9.65 IRF6 HAND2 FOXC1
8 sequence-specific double-stranded DNA binding GO:1990837 9.56 NKX3-2 MSX1 IRF6 HAND2 DLX6 DLX2
9 chemoattractant activity GO:0042056 9.46 FGF8 BMP4
10 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.32 NKX3-2 MSX1 IRF6 HAND2 FOXC1 DLX6

Sources for Syngnathia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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