MCID: SYN075
MIFTS: 29

Syngnathia

Categories: Rare diseases, Fetal diseases

Aliases & Classifications for Syngnathia

MalaCards integrated aliases for Syngnathia:

Name: Syngnathia 57
Cleft Palate-Lateral Synechia Syndrome 57 59 29 73
Cpls Syndrome 57 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
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 syngnathia cleft palate and syngnathia multiple anomalies. An important gene associated with Syngnathia is IRF6 (Interferon Regulatory Factor 6). Affiliated tissues include tongue, skin and brain, and related phenotypes are narrow mouth and cleft palate

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 14)
# Related Disease Score Top Affiliating Genes
1 syngnathia cleft palate 12.1
2 syngnathia multiple anomalies 11.9
3 isolated congenital syngnathia 11.9
4 popliteal pterygium syndrome 11.3
5 dobrow syndrome 11.3
6 cleft palate, isolated 10.0
7 microcephaly 10.0
8 van der woude syndrome 1 9.8
9 choanal atresia, posterior 9.8
10 brachydactyly 9.8
11 hypospadias 9.8
12 ankylosis 9.8
13 conjunctivitis 9.8
14 tracheoesophageal fistula 9.8

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

Drugs & Therapeutics for Syngnathia

Search Clinical Trials , NIH Clinical Center for Syngnathia

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

Publications for Syngnathia

Articles related to Syngnathia:

(show all 44)
# 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
Congenital Syngnathia; Turmoils and Tragedy. ( 28083498 )
2017
6
Popliteal Pterygium Syndrome With Syngnathia. ( 28468208 )
2017
7
Complete Maxillo-Mandibular Syngnathia in a Newborn with Multiple Congenital Malformations. ( 23778189 )
2016
8
Fiber optic intubation of a neonate with Syngnathia under local anesthesia and sedation. ( 27006567 )
2016
9
Anesthesia-airway management in a newborn with syngnathia. ( 27687459 )
2016
10
Isolated bony syngnathia. ( 26803438 )
2016
11
Congenital bilateral syngnathia and tracheoesophageal fistula: A rare presentation. ( 27994431 )
2016
12
Syngnathia Between the Palate and Mouth Floor, Cleft Palate, and Funnel Chest. ( 28005814 )
2016
13
Unilateral complex syngnathia of the maxilla, mandible, and zygomatic complex in a newborn baby. ( 27372233 )
2016
14
Congenital maxillomandibular syngnathia: a new management technique using distraction techniques. ( 25569423 )
2015
15
Journey to chew: a case of maxillary duplication and bony syngnathia. ( 25487671 )
2015
16
Congenital intra-oral adhesions: A surgical approach to cleft palate lateral synechia syndrome. ( 25819497 )
2015
17
Postnatal Diagnosis of a Baby With Multiple Rare Congenital Anomalies Including Syngnathia, Brain Dysmorphism, and Skin Pigmentation. ( 25325328 )
2015
18
Bilateral maxillo-mandibular syngnathia in a newborn. ( 25426216 )
2014
19
Directed Bmp4 expression in neural crest cells generates a genetic model for the rare human bony syngnathia birth defect. ( 24785830 )
2014
20
Syngnathia and obstructive apnea in a case of popliteal pterygium syndrome. ( 25388409 )
2014
21
Bilateral maxillo-mandibular syngnathia in a newborn. ( 26023524 )
2014
22
Prenatal diagnosis of congenital syngnathia by 3D ultrasound and pathological correlation. ( 27276933 )
2013
23
Cleft palate lateral synechia syndrome. ( 24163560 )
2013
24
Interaction between Foxc1 and Fgf8 during mammalian jaw patterning and in the pathogenesis of syngnathia. ( 24385915 )
2013
25
A case of syngnathia, cleft palate and hypospadias: an isolated case or syndromic syngnathism? ( 21501960 )
2012
26
Congenital zygomatico-mandibular fusion (pseudo-syngnathia?) in conjunction with unilateral anophthalmia: review of terminology and classification. ( 21438651 )
2012
27
Congenital fusion of the maxilla and mandible (congenital bony syngnathia). ( 20537862 )
2010
28
Choanal atresia, syngnathia, brachydactyly, mental retardation and short stature: an X-linked syndrome? ( 19730370 )
2010
29
Congenital bony syngnathia with unilateral palatal shelf and soft palate agenesis. ( 20856069 )
2010
30
Congenital unilateral maxillo-mandibulo-zygomatic fusion (syngnathia): a case report in an 8-year-old boy. ( 20097541 )
2010
31
Congenital syngnathia: case report and review of literature. ( 20500072 )
2010
32
Cleft palate lateral synechia syndrome: an opportunity for unique surgical closure. ( 19368978 )
2009
33
Popliteal pterygium syndrome (PPS) with intra-alveolar syngnathia: a discussion of anesthetic and surgical considerations. ( 17651819 )
2007
34
Bony syngnathia, vertebral segmentation defect, coloboma, microcephaly and mental retardation: confirmation of Dobrow syndrome and review of syndromal syngnathias. ( 15365455 )
2004
35
Cleft-palate lateral synechia syndrome: insight into the phenotypic spectrum of Fryns syndrome? ( 12962292 )
2003
36
Syngnathia and Van der Woude syndrome: a case report and literature review. ( 12498614 )
2003
37
Popliteal pterygium syndrome with syngnathia. ( 12535046 )
2003
38
Cleft palate lateral synechia syndrome. ( 11604632 )
2001
39
Complete congenital bony syngnathia in a case of oromandibular limb hypogenesis syndrome. ( 11314391 )
2000
40
Congenital bony syngnathia: a proposed classification. ( 9138509 )
1997
41
[Source studies on the etiology, diagnosis and treatment of TMJ ankylosis and syngnathia. 1. From classical antiquity to mid-19th century]. ( 1816952 )
1991
42
Cleft palate lateral synechia syndrome. Review of the literature and case report. ( 2682426 )
1989
43
Congenital syngnathia or fusion of the gums and jaws. ( 3920632 )
1985
44
Cleft palate lateral synechia syndrome without the lateral synechia (CP plus or minus LS syndrome). ( 4824743 )
1974

Variations for Syngnathia

Expression for Syngnathia

Search GEO for disease gene expression data for Syngnathia.

Pathways for Syngnathia

GO Terms for Syngnathia

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
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