MCID: MCR302
MIFTS: 29

Macrostomia, Isolated

Categories: Fetal diseases, Rare diseases

Aliases & Classifications for Macrostomia, Isolated

MalaCards integrated aliases for Macrostomia, Isolated:

Name: Macrostomia, Isolated 57
Macrostomia 57 58 13 6 32
Transverse Facial Cleft 58 6
Tessier Number 7 Facial Cleft 58
Commissural Cleft, Isolated 57
Transverse Cleft, Isolated 57
Commissural Facial Cleft 58
Lateral Cleft, Isolated 57

Characteristics:

Orphanet epidemiological data:

58
tessier number 7 facial cleft
Inheritance: Autosomal dominant; Age of onset: Antenatal,Neonatal;

Classifications:

Orphanet: 58  
Developmental anomalies during embryogenesis


External Ids:

OMIM® 57 613545
ICD10 32 Q18.4
ICD10 via Orphanet 33 Q18.4
UMLS via Orphanet 71 C0024433
Orphanet 58 ORPHA141276

Summaries for Macrostomia, Isolated

OMIM® : 57 Macrostomia is a congenital defect resulting from persistent lateral facial clefts, caused by failure of the maxillary and mandibular portions of the first branchial arch to unite normally. Macrostomia is a rare anomaly, with an estimated incidence of 1 in 150,000 to 300,000 births and is most often associated with other anomalies. Unilateral macrostomia is more common than bilateral (summary by Hawkins et al., 1973). (613545) (Updated 05-Apr-2021)

MalaCards based summary : Macrostomia, Isolated, also known as macrostomia, is related to hypertelorism and orofacial cleft. An important gene associated with Macrostomia, Isolated is POGZ (Pogo Transposable Element Derived With ZNF Domain). Affiliated tissues include eye and skin.

Wikipedia : 73 Macrostomia refers to a mouth that is unusually wide. The term is from the Greek prefix makro- meaning... more...

Related Diseases for Macrostomia, Isolated

Diseases related to Macrostomia, Isolated via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 66)
# Related Disease Score Top Affiliating Genes
1 hypertelorism 30.3 SPECC1L POGZ
2 orofacial cleft 29.4 SPECC1L FBN1
3 ablepharon-macrostomia syndrome 11.8
4 barber-say syndrome 11.6
5 mandibulofacial dysostosis with macroblepharon and macrostomia 11.3
6 trigonobrachycephaly, bulbous bifid nose, micrognathia, and abnormalities of the hands and feet 11.2
7 cardiofaciocutaneous syndrome 3 11.0
8 mental retardation and distinctive facial features with or without cardiac defects 11.0
9 simpson-golabi-behmel syndrome 11.0
10 macrostomia-preauricular tags-external ophthalmoplegia syndrome 10.9
11 treacher collins syndrome 1 10.9
12 fryns syndrome 10.9
13 lambert syndrome 10.9
14 alazami syndrome 10.9
15 facial cleft 10.3
16 say syndrome 10.3
17 ectropion 10.3
18 hypertrichosis 10.2
19 frontonasal dysplasia 1 10.0
20 baraitser-winter syndrome 1 10.0
21 keratopathy 10.0
22 cleft lip 10.0
23 cleft palate, isolated 10.0
24 focal dermal hypoplasia 10.0
25 hypogonadotropic hypogonadism 10.0
26 microphthalmia 10.0
27 hypogonadism 10.0
28 kallmann syndrome 10.0
29 polyhydramnios 10.0
30 hemifacial microsomia 10.0
31 polykaryocytosis inducer 10.0
32 fraser syndrome 1 10.0
33 dysostosis 10.0
34 coloboma of macula 9.8
35 papillomatosis, confluent and reticulated 9.8
36 greig cephalopolysyndactyly syndrome 9.8
37 tracheoesophageal fistula with or without esophageal atresia 9.8
38 widow's peak 9.8
39 acrocallosal syndrome 9.8
40 focal facial dermal dysplasia 3, setleis type 9.8
41 hydrocephalus due to congenital stenosis of aqueduct of sylvius 9.8
42 acrofrontofacionasal dysostosis 2 9.8
43 kearns-sayre syndrome 9.8
44 fryns microphthalmia syndrome 9.8
45 yemenite deaf-blind hypopigmentation syndrome 9.8
46 polydactyly 9.8
47 pitt-hopkins syndrome 9.8
48 alacrima, achalasia, and mental retardation syndrome 9.8
49 helix syndrome 9.8
50 acrofrontofacionasal dysostosis 9.8

Graphical network of the top 20 diseases related to Macrostomia, Isolated:



Diseases related to Macrostomia, Isolated

Symptoms & Phenotypes for Macrostomia, Isolated

Clinical features from OMIM®:

613545 (Updated 05-Apr-2021)

Drugs & Therapeutics for Macrostomia, Isolated

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Craniofacial Microsomia: Longitudinal Outcomes in Children Pre-Kindergarten (CLOCK) Unknown status NCT02224677
2 Transverse Facial Cleft (Macrostomia) Repair: Modification of a Traditional Technique Completed NCT03282721

Search NIH Clinical Center for Macrostomia, Isolated

Genetic Tests for Macrostomia, Isolated

Anatomical Context for Macrostomia, Isolated

MalaCards organs/tissues related to Macrostomia, Isolated:

40
Eye, Skin

Publications for Macrostomia, Isolated

Articles related to Macrostomia, Isolated:

(show top 50) (show all 203)
# Title Authors PMID Year
1
A susceptibility locus on 1p32-1p34 for congenital macrostomia in a Chinese family and identification of a novel PTCH2 mutation. 61 57
19208383 2009
2
Bilateral macrostomia as an isolated pathology. 61 57
17214527 2007
3
Ablepheron macrostomia syndrome. 57 61
913905 1977
4
Bilateral macrostomia as an isolated deformity. 57 61
4694559 1973
5
A novel nonsense mutation in the TCOF1 gene in one Chinese newborn with Treacher Collins syndrome. 61
33341718 2021
6
Surgical Approach to Hemipalatal Discrepancy in Tessier 7 Reconstruction: Review of Literature and Case Series. 61
33611933 2021
7
A case of ablepharon macrostomia syndrome requiring multidisciplinary care. 61
33689605 2021
8
An optimized base editor with efficient C-to-T base editing in zebrafish. 61
33272268 2020
9
Anatomic Approximation Approach to Bilateral Macrostomia Repair. 61
33252523 2020
10
Depressor Anguli Oris Function in Oral Macrostomia. 61
33229990 2020
11
Ablepharon Macrostomia Syndrome: Rib Cartilage and Fat Grafting for Lower Lid Reconstruction. 61
33055564 2020
12
MISSED DIAGNOSIS OF ISOLATED BILATERAL TRANSVERSE FACIAL CLEFT: A CASE REPORT. 61
33071692 2020
13
Macrostomia with tracheoesophageal fistula in a neonate: Airway challenge. 61
33210427 2020
14
Long-Term Results of the Surgical Management of the Upper Eyelids in "Ablepharon"-Macrostomia Syndrome. 61
31373987 2020
15
Transverse facial cleft (macrostomia) repair: Modification of a traditional technique. 61
31562029 2019
16
Surgical management of the Tessier 7 cleft: A review and presentation of 5 cases. 61
32158892 2019
17
Simpson-Golabi-Behmel syndrome type 1 with subclinical hypothyroidism: A case report. 61
31651874 2019
18
Laryngo-tracheal stenosis in a woman with ablepharon macrostomia syndrome. 61
31462237 2019
19
Visual diagnosis in utero: Prenatal diagnosis of Treacher-Collins syndrome using a 3D/4D ultrasonography. 61
31307753 2019
20
Barber Say Syndrome (A New Case Report). 61
30984591 2019
21
Is MED13L-related intellectual disability a recognizable syndrome? 61
29959045 2019
22
Surgical correction for Tessier number 7 craniofacial cleft using a medially overcorrected design. 61
30685937 2019
23
Macrostomia: The defining feature of the oculo-auriculo-vertebral spectrum. 61
29728157 2019
24
Ablepharon and craniosynostosis in a patient with a localized TWIST1 basic domain substitution. 61
30450715 2018
25
Programmable base editing in zebrafish using a modified CRISPR-Cas9 system. 61
30076894 2018
26
Surgical Alternative for Repair of Bilateral Macrostomia. 61
29916981 2018
27
Isolated Bilateral Macrostomia. 61
29742578 2018
28
Our Surgical Repair for Macrostomia with Two Novel Small Triangular Flaps: Long-Term Follow-Up and Results. 61
29652764 2018
29
The "Double" Tessier 7 Cleft: An Unusual Presentation of a Transverse Facial Cleft. 61
27959587 2018
30
Use of the Masquerade Flap in Ablepharon-Macrostomia Syndrome: A Case Report. 61
29538102 2018
31
The focal facial dermal dysplasias: phenotypic spectrum and molecular genetic heterogeneity. 61
28663233 2017
32
Localized TWIST1 and TWIST2 basic domain substitutions cause four distinct human diseases that can be modeled in Caenorhabditis elegans. 61
28369379 2017
33
Barber-Say Syndrome and Ablepharon-Macrostomia Syndrome: A Patient's View. 61
28690482 2017
34
Maxillofacial features and systemic malformations in expanded spectrum Hemifacial Microsomia. 61
28319315 2017
35
A Constellation of Rare Findings in a Case of Goldenhar Syndrome. 61
28607792 2017
36
Unilateral macrostomia in the newborn: a rare congenital anomaly of the oral commissure. 61
27793865 2016
37
Male fertility and skin diseases. 61
27342409 2016
38
Barber-Say syndrome and Ablepharon-Macrostomia syndrome: An overview. 61
27196381 2016
39
[Median congenital fistula of the upper lip associated with Goldenhar syndrome: Report of a case]. 61
26006304 2016
40
General anesthesia of a Japanese infant with Barber-Say syndrome: a case report. 61
29497666 2016
41
[Isolated bilateral macrostomia: case report and literature review]. 61
27911070 2016
42
Macrostomia: A Practical Guide for Plastic and Reconstructive Surgeons. 61
26703052 2016
43
A Case Report of Ablepharon-Macrostomia Syndrome with Amniotic Membrane Grafting. 61
26600791 2015
44
Distinguishing Goldenhar Syndrome from Craniofacial Microsomia. 61
26267577 2015
45
Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes. 61
26119818 2015
46
Goldenhar Syndrome with Tessier's 7 Cleft: Report of a Case. 61
25838668 2015
47
Bilateral Tessier's 7 Cleft with Maxillary Duplication. 61
25838682 2015
48
Clarifying the relationships among the different features of the OMENS+ classification in craniofacial microsomia. 61
25539322 2015
49
Lateral cleft lip and macrostomia: Case report and review of the literature. 61
25336811 2014
50
A case of Barber-Say syndrome in a male Japanese newborn. 61
25614816 2014

Variations for Macrostomia, Isolated

ClinVar genetic disease variations for Macrostomia, Isolated:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 overlap with 51 genes GRCh37/hg19 1p32.3-32.2(chr1:51941877-56688514) copy number loss Pathogenic 1047872 GRCh37: 1:51941877-56688514
GRCh38:
2 overlap with 129 genes GRCh37/hg19 7q21.12-22.1(chr7:87477185-100333327) copy number gain Pathogenic 1047880 GRCh37: 7:87477185-100333327
GRCh38:
3 POGZ NM_015100.4(POGZ):c.2771del (p.Pro924fs) Deletion Pathogenic 523510 rs1553212868 GRCh37: 1:151378740-151378740
GRCh38: 1:151406264-151406264
4 overlap with 25 genes GRCh37/hg19 7q11.23(chr7:72772522-74133319) copy number loss Pathogenic 523284 GRCh37: 7:72772522-74133319
GRCh38:
5 overlap with 4 genes GRCh37/hg19 2q24.3(chr2:165903672-166666206) copy number gain Pathogenic 997058 GRCh37: 2:165903672-166666206
GRCh38:
6 FBN1 NM_000138.4(FBN1):c.5183C>T (p.Ala1728Val) SNV Likely pathogenic 430150 rs1131691804 GRCh37: 15:48755320-48755320
GRCh38: 15:48463123-48463123

Expression for Macrostomia, Isolated

Search GEO for disease gene expression data for Macrostomia, Isolated.

Pathways for Macrostomia, Isolated

GO Terms for Macrostomia, Isolated

Sources for Macrostomia, Isolated

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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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