MCID: FCL090
MIFTS: 35

Facial Cleft

Categories: Fetal diseases, Rare diseases

Aliases & Classifications for Facial Cleft

MalaCards integrated aliases for Facial Cleft:

Name: Facial Cleft 59 29
Craniofacial Cleft 59

Classifications:



External Ids:

ICD10 via Orphanet 34 Q18.8
UMLS via Orphanet 73 C0685787
Orphanet 59 ORPHA141229

Summaries for Facial Cleft

MalaCards based summary : Facial Cleft, also known as craniofacial cleft, is related to acromelic frontonasal dysostosis and cleft palate, isolated. 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 : 75 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 208)
# Related Disease Score Top Affiliating Genes
1 acromelic frontonasal dysostosis 31.6 ZSWIM6 ALX3
2 cleft palate, isolated 30.3 IRF6 ALX3
3 cleft lip/palate 29.9 SPECC1L IRF6
4 dysostosis 29.5 ZSWIM6 ALX4
5 widow's peak 28.0 ZSWIM6 ALX4 ALX3 ALX1
6 facial clefting, oblique, 1 12.7
7 hypertelorism, microtia, facial clefting syndrome 12.6
8 paramedian facial cleft 12.4
9 lateral facial cleft 12.3
10 tessier number 5 facial cleft 12.3
11 microphthalmia with cyst, bilateral facial clefts, and limb anomalies 12.3
12 frontonasal dysplasia 1 12.2
13 facial clefting corpus callosum agenesis 12.2
14 frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome 12.2
15 tessier number 6 facial cleft 12.2
16 genetic facial cleft 12.2
17 macrostomia, isolated 12.1
18 oculomaxillofacial dysostosis 12.0
19 3mc syndrome 3 11.9
20 frontonasal dysplasia 3 11.9
21 fryns microphthalmia syndrome 11.7
22 brachial amelia, cleft lip, and holoprosencephaly 11.5
23 microcephaly, corpus callosum dysgenesis, and cleft lip/palate 11.5
24 samson viljoen syndrome 11.5
25 3mc syndrome 11.3
26 ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 1 11.3
27 bartsocas-papas syndrome 11.3
28 adult syndrome 11.1
29 oculoauriculofrontonasal syndrome 11.1
30 ectrodactyly and ectodermal dysplasia without cleft lip/palate 11.0
31 ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 11.0
32 frontonasal dysplasia 2 11.0
33 limb-body wall complex 11.0
34 cleft lip 10.8
35 cleft lip with or without cleft palate 10.5
36 isolated cleft lip 10.3
37 hypertelorism 10.2
38 amniotic band syndrome 10.2
39 hemifacial microsomia 10.2
40 neural tube defects 10.2
41 teeth, supernumerary 10.2
42 microphthalmia 10.2
43 amelia 10.2
44 microtia 10.2
45 polydactyly 10.1
46 holoprosencephaly 10.1
47 microcephaly 10.1
48 chromosomal triplication 10.1
49 encephalocele 10.1
50 coloboma of macula 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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.83 ALX1 ALX3 ALX4 IRF6 SPECC1L
2 embryo MP:0005380 9.77 ALX1 ALX3 ALX4 IRF6 SPECC1L
3 growth/size/body region MP:0005378 9.72 ALX1 ALX3 ALX4 IRF6 ZSWIM6
4 digestive/alimentary MP:0005381 9.71 ALX1 ALX3 ALX4 IRF6
5 mortality/aging MP:0010768 9.63 ALX1 ALX3 ALX4 IRF6 SPECC1L ZSWIM6
6 limbs/digits/tail MP:0005371 9.56 ALX1 ALX3 ALX4 IRF6
7 nervous system MP:0003631 9.35 ALX1 ALX3 ALX4 SPECC1L ZSWIM6
8 skeleton MP:0005390 8.92 ALX1 ALX3 ALX4 IRF6

Drugs & Therapeutics for Facial Cleft

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


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

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Short/Long-term Observation of Transverse Facial Cleft Repair Using Precise Location of Commissure Completed NCT03282721
2 FaceBase Biorepository Completed NCT01252264
3 Genetic Analysis of Neural Tube and Orofacial Cleft Defects in the Irish Population Completed 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:

41
Bone, Skin, Eye, Heart, Tongue, Brain, Cortex

Publications for Facial Cleft

Articles related to Facial Cleft:

(show top 50) (show all 488)
# Title Authors PMID Year
1
Oral and dental findings in emanuel syndrome. 38
30980693 2019
2
Surgical repair for transverse facial cleft: two flaps with a superiorly rotated single Z-plasty lateral to the commissure. 38
31116613 2019
3
Craniofacial Cleft: A Case of Tessier 10 Cleft With a Novel Method to Repair Large Bilateral Colobomas. 38
31159559 2019
4
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. 38
31092003 2019
5
Crucial and Overlapping Roles of Six1 and Six2 in Craniofacial Development. 38
30905259 2019
6
Complete bilateral Tessier's facial cleft number 5: surgical strategy for a rare case report. 38
30656417 2019
7
Atypical Facial Clefts From Northcentral Nigeria, Review of 36 Cases. 38
30045630 2019
8
Tessier 30 Median Mandibular Hard and Soft Tissue Cleft, One-Stage Reconstruction Using a Template-Guided Resorbable "U"-Shaped Plate. 38
30971098 2019
9
Lateral Canthal Clefts of the Eyelid. 38
30865066 2019
10
Diagnostic criteria in Pai syndrome: results of a case series and a literature review. 38
30195458 2019
11
New Technologies in Rhinoplasty: A Comprehensive Workflow for Computer-assisted Planning and Execution. 38
31044106 2019
12
Surgical correction for Tessier number 7 craniofacial cleft using a medially overcorrected design. 38
30685937 2019
13
The oculoauriculofrontonasal syndrome: Further clinical characterization and additional evidence suggesting a nontraditional mode of inheritance. 38
30548201 2018
14
Anatomical repair of a bilateral Tessier No. 3 cleft by midfacial advancement. 38
29744331 2018
15
Fgfr1 conditional-knockout in neural crest cells induces heterotopic chondrogenesis and osteogenesis in mouse frontal bones. 38
30499042 2018
16
Intra- and Postoperative Complications of Le Fort I Maxillary Osteotomy. 38
30277955 2018
17
Approach to Half-Nose and Proboscis Lateralis. 38
30320674 2018
18
Single Stage Repair of #30 Facial Cleft with Bone Morphogenic Protein. 38
30881779 2018
19
Double limbal dermoid with Tessier's paramedian facial cleft. 38
29758316 2018
20
Lateral Lower Lip Cleft: A Report of a Rare Craniofacial Cleft in a Child. 38
29894460 2018
21
The Arkansas Tessier Number 3 Cleft Experience: Soft Tissue and Skeletal Findings With Primary Surgical Management: Four-Step Approach. 38
29877978 2018
22
Surgical Alternative for Repair of Bilateral Macrostomia. 38
29916981 2018
23
Repairing a Facial Cleft by Polyether-Ether-Ketone Implant Combined With Titanium Mesh. 38
29771829 2018
24
Reconstruction of the oral commissure in patients with unilateral transverse facial cleft. 38
30017577 2018
25
Could fetal reduction induce facial cleft? Report of a case. 38
29859779 2018
26
Rotational Advancement in Cleft Nose Rhinoplasty - Buccal Mucosal Grafts Serve as a Powerful Tool. 38
28072550 2018
27
The "Double" Tessier 7 Cleft: An Unusual Presentation of a Transverse Facial Cleft. 38
27959587 2018
28
A Descriptive Study of Chlorhexidine as a Disinfectant in Cleft Palate Surgery. 38
29724746 2018
29
Scar Management After Surgical Repair of Lateral Facial Clefts. 38
29618886 2018
30
Tessier number 4 bilateral craniofacial cleft associated with amniotic band syndrome: 22 years of follow-up. 38
29246756 2018
31
Prenatal 3D sonography of an isolated lateral facial cleft. 38
28961312 2018
32
Computer-Assisted Surgery in Facial Bipartition Surgery. 38
29353636 2018
33
Effect of Using Ringer's Lactate, with and without Addition of Dextrose, on Intra-Operative Blood Sugar Levels in Infants Undergoing Facial Cleft Surgeries. 38
29962586 2018
34
Compound mutations in Bmpr1a and Tak1 synergize facial deformities via increased cell death. 38
29411501 2018
35
Phenotypic spectrum of Tessier facial cleft number 5. 38
29239768 2018
36
Prenatal diagnosis of an 8q22.2-q23.3 deletion associated with bilateral cleft lip and palate and intrauterine growth restriction on fetal ultrasound. 38
29241932 2017
37
Ectopic Preauricular Sinus in a Facial Cleft and Microtia Patient. 38
29349057 2017
38
Prenatal diagnosis of a 1.6-Mb 4p16.3 interstitial microdeletion encompassing FGFRL1 and TACC3 associated with bilateral cleft lip and palate of Wolf-Hirschhorn syndrome facial dysmorphism and short long bones. 38
29241927 2017
39
Pattern of maxillofacial surgical conditions in North Central Nigeria: A 5-year experience of an indigenous surgical mission. 38
29192633 2017
40
Mllt10 knockout mouse model reveals critical role of Af10-dependent H3K79 methylation in midfacial development. 38
28931923 2017
41
Surgery Navigation in Treating Congenital Midfacial Dysplasia of Patients With Facial Cleft. 38
28796110 2017
42
A rare case of cleft number nine associated with atypical cleft number two. 38
28724820 2017
43
Report of an unsual case of anophthalmia and craniofacial cleft in a newborn with Toxoplasma gondii congenital infection. 38
28673238 2017
44
Supernumerary Nostril: Two Years Follow-Up. 38
28582959 2017
45
Invasive cervical resorption and the oro-facial cleft patient: a review and case series. 38
28496230 2017
46
Technique of primary operation for a patient with an oblique facial cleft (Tessier number 2 cleft). 38
28215650 2017
47
The Primary Care Pediatrician and the Care of Children With Cleft Lip and/or Cleft Palate. 38
28557774 2017
48
Management of a Large Frontal Encephalocoele With Supraorbital Bar Remodeling and Advancement. 38
28468209 2017
49
Prenatal ultrasound diagnosis of Tessier number 7 cleft: Case report and review of the literature. 38
28287290 2017
50
The relationship between maternal corticosteroid use and orofacial clefts-a meta-analysis. 38
28216406 2017

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

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 roof of mouth development GO:0060021 9.32 ALX4 ALX1
4 pattern specification process GO:0007389 9.26 ALX4 ALX3
5 embryonic forelimb morphogenesis GO:0035115 9.16 ALX4 ALX3
6 transcription by RNA polymerase II GO:0006366 9.13 ALX1
7 embryonic hindlimb morphogenesis GO:0035116 8.96 ALX4 ALX3
8 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 DNA binding GO:0003677 9.56 IRF6 ALX4 ALX3 ALX1
2 DNA-binding transcription factor activity GO:0003700 9.5 IRF6 ALX4 ALX1
3 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.46 IRF6 ALX4 ALX3 ALX1
4 DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001228 9.13 IRF6 ALX4 ALX1
5 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 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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