MCID: FCL090
MIFTS: 34

Facial Cleft

Categories: Fetal diseases, Rare diseases

Aliases & Classifications for Facial Cleft

MalaCards integrated aliases for Facial Cleft:

Name: Facial Cleft 58 29
Craniofacial Cleft 58

Classifications:

Orphanet: 58  
Developmental anomalies during embryogenesis


External Ids:

ICD10 via Orphanet 33 Q18.8
UMLS via Orphanet 72 C0685787
Orphanet 58 ORPHA141229

Summaries for Facial Cleft

MalaCards based summary : Facial Cleft, also known as craniofacial cleft, is related to acromelic frontonasal dysostosis and cleft lip/palate. An important gene associated with Facial Cleft is SPECC1L (Sperm Antigen With Calponin Homology And Coiled-Coil Domains 1 Like). The drugs leucovorin and Folic acid have been mentioned in the context of this disorder. Affiliated tissues include bone, skin and eye, and related phenotypes are craniofacial and embryo

Wikipedia : 74 A facial cleft is an opening or gap in the face, or a malformation of a part of the face. Facial clefts... more...

Related Diseases for Facial Cleft

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

(show top 50) (show all 202)
# Related Disease Score Top Affiliating Genes
1 acromelic frontonasal dysostosis 31.4 ZSWIM6 ALX3
2 cleft lip/palate 30.7 SPECC1L IRF6
3 van der woude syndrome 1 29.8 SPECC1L IRF6
4 cleft palate, isolated 29.3 SPECC1L IRF6 ALX4 ALX3 ALX1
5 hypertelorism 29.2 SPECC1L ALX4 ALX3 ALX1
6 orbital cyst 29.1 ZSWIM6 ALX3
7 neural tube defects 29.0 ALX4 ALX3 ALX1
8 orofacial cleft 28.9 IRF6 ALX4 ALX3
9 synostosis 28.7 ALX4 ALX3
10 dysostosis 28.5 ZSWIM6 SPECC1L ALX4 ALX3
11 widow's peak 27.7 ZSWIM6 SPECC1L ALX4 ALX3 ALX1
12 facial clefting, oblique, 1 12.8
13 hypertelorism, microtia, facial clefting syndrome 12.6
14 paramedian facial cleft 12.4
15 lateral facial cleft 12.4
16 tessier number 5 facial cleft 12.3
17 microphthalmia with cyst, bilateral facial clefts, and limb anomalies 12.3
18 frontonasal dysplasia 1 12.2
19 facial clefting corpus callosum agenesis 12.2
20 tessier number 6 facial cleft 12.2
21 genetic facial cleft 12.2
22 macrostomia, isolated 12.1
23 oculomaxillofacial dysostosis 12.0
24 frontonasal dysplasia 3 12.0
25 3mc syndrome 3 11.8
26 fryns microphthalmia syndrome 11.8
27 brachial amelia, cleft lip, and holoprosencephaly 11.5
28 microcephaly, corpus callosum dysgenesis, and cleft lip/palate 11.5
29 samson viljoen syndrome 11.5
30 3mc syndrome 11.3
31 ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 1 11.3
32 bartsocas-papas syndrome 11.3
33 adult syndrome 11.1
34 oculoauriculofrontonasal syndrome 11.1
35 ectrodactyly and ectodermal dysplasia without cleft lip/palate 11.0
36 ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 11.0
37 frontonasal dysplasia 2 11.0
38 limb-body wall complex 11.0
39 cleft lip 10.8
40 cleft lip with or without cleft palate 10.5
41 isolated cleft lip 10.3
42 constricting bands, congenital 10.2
43 hemifacial microsomia 10.2
44 teeth, supernumerary 10.2
45 polydactyly 10.2
46 microphthalmia 10.2
47 amelia 10.2
48 microtia 10.2
49 choanal atresia, posterior 10.1
50 microcephaly 10.1

Graphical network of the top 20 diseases related to Facial Cleft:



Diseases related to Facial Cleft

Symptoms & Phenotypes for Facial Cleft

MGI Mouse Phenotypes related to Facial Cleft:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.77 ALX1 ALX3 ALX4 IRF6 SPECC1L
2 embryo MP:0005380 9.65 ALX1 ALX3 ALX4 IRF6 SPECC1L
3 digestive/alimentary MP:0005381 9.62 ALX1 ALX3 ALX4 IRF6
4 limbs/digits/tail MP:0005371 9.46 ALX1 ALX3 ALX4 IRF6
5 mortality/aging MP:0010768 9.43 ALX1 ALX3 ALX4 IRF6 SPECC1L ZSWIM6
6 nervous system MP:0003631 9.02 ALX1 ALX3 ALX4 SPECC1L ZSWIM6

Drugs & Therapeutics for Facial Cleft

Drugs for Facial Cleft (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 6)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
leucovorin Approved 58-05-9 6006 143
2
Folic acid Approved, Nutraceutical, Vet_approved 59-30-3 6037
3 Anesthetics
4 Vitamin B Complex
5 Folate
6 Vitamin B9

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Transverse Facial Cleft (Macrostomia) Repair: Modification of a Traditional Technique Completed NCT03282721
2 FaceBase Biorepository Completed NCT01252264
3 Use of Computer Aided Design and 3D Printing for Anesthesiology Management in a Pediatric Patient With Cleft Facial Defect: Pilot Trial Recruiting NCT04422964
4 Use of Computer Aided Design and 3D Printing for Anesthesiology Management in a Pediatric Patient With Cleft Facial Defect Not yet recruiting NCT04422847
5 Genetic Analysis of Neural Tube and Orofacial Cleft Defects in the Irish Population Terminated NCT00341068

Search NIH Clinical Center for Facial Cleft

Genetic Tests for Facial Cleft

Genetic tests related to Facial Cleft:

# Genetic test Affiliating Genes
1 Facial Cleft 29

Anatomical Context for Facial Cleft

MalaCards organs/tissues related to Facial Cleft:

40
Bone, Skin, Eye, Heart, Tongue, Brain, Cortex

Publications for Facial Cleft

Articles related to Facial Cleft:

(show top 50) (show all 503)
# Title Authors PMID Year
1
True Median Cleft Lip-15 Years of Review and Prevalence. 61
32476501 2020
2
Wolf-Hirschhorn syndrome: Prenatal diagnosis and molecular cytogenetic characterization of a de novo distal deletion of 4p (4p16.1 → pter) in a fetus with facial cleft and preaxial polydactyly. 61
32416892 2020
3
Proatlas anomalies in craniofacial malformations: 5-year experience in King Chulalongkorn Memorial Hospital. 61
32253491 2020
4
Image-guided navigation surgery for bilateral choanal atresia with a Tessier number 3 facial cleft in an adult. 61
32126624 2020
5
Transverse facial cleft (macrostomia) repair: Modification of a traditional technique. 61
31562029 2019
6
Frontonasal dysplasia: A case report. 61
31914496 2019
7
Surgical Management of Median Cleft Lip Extending as Far as Alveolus Using Bone Grafting. 61
31761879 2019
8
Orbicularis oris muscle reconstruction and cheiloplasty with Z-plasty in a patient with a transverse facial cleft. 61
31844633 2019
9
Median Facial Cleft. 61
31679592 2019
10
Facial Cleft in a Mayan Figurine. 61
31689728 2019
11
Craniofacial Cleft: A Case of Tessier 10 Cleft With a Novel Method to Repair Large Bilateral Colobomas. 61
31159559 2019
12
Tessier 30 Median Mandibular Hard and Soft Tissue Cleft, One-Stage Reconstruction Using a Template-Guided Resorbable "U"-Shaped Plate. 61
30971098 2019
13
Bifid Tongue and Cleft Palate With and Without a Tessier 30 Facial Cleft: Cases of Rare Congenital Anomalies and a Review of Management and Literature. 61
31092003 2019
14
Fgfr1 conditional-knockout in neural crest cells induces heterotopic chondrogenesis and osteogenesis in mouse frontal bones. 61
30499042 2019
15
Lateral Canthal Clefts of the Eyelid. 61
30865066 2019
16
Oral and dental findings in emanuel syndrome. 61
30980693 2019
17
Mosaic trisomy 22 at amniocentesis: Prenatal diagnosis and literature review. 61
31542095 2019
18
Surgical repair for transverse facial cleft: two flaps with a superiorly rotated single Z-plasty lateral to the commissure. 61
31116613 2019
19
Soft tissue reconstruction in wide Tessier number 3 cleft using the straight-line advanced release technique. 61
31462018 2019
20
A rare case of bilateral oblique facial cleft and accessory maxilla with repaired unilateral cleft lip and palate. 61
31798265 2019
21
[Application of modified vermillion flap and orbicularoris oris bundle anastomosis in repair of transverse facial cleft]. 61
31901023 2019
22
Complete bilateral Tessier's facial cleft number 5: surgical strategy for a rare case report. 61
30656417 2019
23
A Rare Case of a Combination of Tessier Cleft 0 and 3 in a 4-Year-Old Child-A Case Report. 61
31602145 2019
24
Crucial and Overlapping Roles of Six1 and Six2 in Craniofacial Development. 61
30905259 2019
25
Atypical Facial Clefts From Northcentral Nigeria, Review of 36 Cases. 61
30045630 2019
26
New Technologies in Rhinoplasty: A Comprehensive Workflow for Computer-assisted Planning and Execution. 61
31044106 2019
27
Diagnostic criteria in Pai syndrome: results of a case series and a literature review. 61
30195458 2019
28
Surgical correction for Tessier number 7 craniofacial cleft using a medially overcorrected design. 61
30685937 2019
29
The oculoauriculofrontonasal syndrome: Further clinical characterization and additional evidence suggesting a nontraditional mode of inheritance. 61
30548201 2018
30
Anatomical repair of a bilateral Tessier No. 3 cleft by midfacial advancement. 61
29744331 2018
31
Approach to Half-Nose and Proboscis Lateralis. 61
30320674 2018
32
Intra- and Postoperative Complications of Le Fort I Maxillary Osteotomy. 61
30277955 2018
33
Single Stage Repair of #30 Facial Cleft with Bone Morphogenic Protein. 61
30881779 2018
34
Lateral Lower Lip Cleft: A Report of a Rare Craniofacial Cleft in a Child. 61
29894460 2018
35
The Arkansas Tessier Number 3 Cleft Experience: Soft Tissue and Skeletal Findings With Primary Surgical Management: Four-Step Approach. 61
29877978 2018
36
Double limbal dermoid with Tessier's paramedian facial cleft. 61
29758316 2018
37
Surgical Alternative for Repair of Bilateral Macrostomia. 61
29916981 2018
38
Repairing a Facial Cleft by Polyether-Ether-Ketone Implant Combined With Titanium Mesh. 61
29771829 2018
39
Reconstruction of the oral commissure in patients with unilateral transverse facial cleft. 61
30017577 2018
40
Could fetal reduction induce facial cleft? Report of a case. 61
29859779 2018
41
Rotational Advancement in Cleft Nose Rhinoplasty - Buccal Mucosal Grafts Serve as a Powerful Tool. 61
28072550 2018
42
The "Double" Tessier 7 Cleft: An Unusual Presentation of a Transverse Facial Cleft. 61
27959587 2018
43
Tessier number 4 bilateral craniofacial cleft associated with amniotic band syndrome: 22 years of follow-up. 61
29246756 2018
44
A Descriptive Study of Chlorhexidine as a Disinfectant in Cleft Palate Surgery. 61
29724746 2018
45
Scar Management After Surgical Repair of Lateral Facial Clefts. 61
29618886 2018
46
Prenatal 3D sonography of an isolated lateral facial cleft. 61
28961312 2018
47
Computer-Assisted Surgery in Facial Bipartition Surgery. 61
29353636 2018
48
Effect of Using Ringer's Lactate, with and without Addition of Dextrose, on Intra-Operative Blood Sugar Levels in Infants Undergoing Facial Cleft Surgeries. 61
29962586 2018
49
Compound mutations in Bmpr1a and Tak1 synergize facial deformities via increased cell death. 61
29411501 2018
50
Phenotypic spectrum of Tessier facial cleft number 5. 61
29239768 2018

Variations for Facial Cleft

Expression for Facial Cleft

Search GEO for disease gene expression data for Facial Cleft.

Pathways for Facial Cleft

GO Terms for Facial Cleft

Cellular components related to Facial Cleft according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nuclear chromatin GO:0000790 8.92 IRF6 ALX4 ALX3 ALX1

Biological processes related to Facial Cleft according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 regulation of transcription, DNA-templated GO:0006355 9.67 IRF6 ALX4 ALX3 ALX1
2 anterior/posterior pattern specification GO:0009952 9.4 ALX4 ALX1
3 pattern specification process GO:0007389 9.32 ALX4 ALX3
4 embryonic forelimb morphogenesis GO:0035115 9.26 ALX4 ALX3
5 embryonic hindlimb morphogenesis GO:0035116 9.16 ALX4 ALX3
6 roof of mouth development GO:0060021 9.13 IRF6 ALX4 ALX1
7 embryonic skeletal system morphogenesis GO:0048704 8.8 ALX4 ALX3 ALX1

Molecular functions related to Facial Cleft according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 RNA polymerase II regulatory region sequence-specific DNA binding GO:0000977 9.33 ALX4 ALX3 ALX1
2 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.26 IRF6 ALX4 ALX3 ALX1
3 sequence-specific DNA binding GO:0043565 8.92 IRF6 ALX4 ALX3 ALX1

Sources for Facial Cleft

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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