MCID: MCR302
MIFTS: 25

Macrostomia, Isolated

Categories: Fetal diseases, Rare diseases

Aliases & Classifications for Macrostomia, Isolated

MalaCards integrated aliases for Macrostomia, Isolated:

Name: Macrostomia, Isolated 57
Macrostomia 57 59 13
Tessier Number 7 Facial Cleft 59
Commissural Cleft, Isolated 57
Transverse Cleft, Isolated 57
Commissural Facial Cleft 59
Lateral Cleft, Isolated 57
Transverse Facial Cleft 59

Characteristics:

Orphanet epidemiological data:

59
tessier number 7 facial cleft
Inheritance: Autosomal dominant; Age of onset: Antenatal,Neonatal;

Classifications:



External Ids:

OMIM 57 613545
Orphanet 59 ORPHA141276
ICD10 via Orphanet 34 Q18.4
UMLS via Orphanet 74 C0024433
ICD10 33 Q18.4

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)

MalaCards based summary : Macrostomia, Isolated, also known as macrostomia, is related to hypertelorism and ablepharon-macrostomia syndrome. An important gene associated with Macrostomia, Isolated is POGZ (Pogo Transposable Element Derived With ZNF Domain). Related phenotypes are Decreased shRNA abundance and Decreased shRNA abundance

Related Diseases for Macrostomia, Isolated

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

GenomeRNAi Phenotypes related to Macrostomia, Isolated according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance GR00251-A-1 9.4 POGZ PTCH2 SPECC1L
2 Decreased shRNA abundance GR00251-A-2 9.4 POGZ PTCH2 SPECC1L

Drugs & Therapeutics for Macrostomia, Isolated

Search Clinical Trials , NIH Clinical Center for Macrostomia, Isolated

Genetic Tests for Macrostomia, Isolated

Anatomical Context for Macrostomia, Isolated

Publications for Macrostomia, Isolated

Articles related to Macrostomia, Isolated:

(show all 39)
# Title Authors Year
1
Our Surgical Repair for Macrostomia with Two Novel Small Triangular Flaps: Long-Term Follow-Up and Results. ( 29652764 )
2018
2
Macrostomia: The defining feature of the oculo-auriculo-vertebral spectrum. ( 29728157 )
2018
3
Isolated Bilateral Macrostomia. ( 29742578 )
2018
4
Surgical Alternative for Repair of Bilateral Macrostomia. ( 29916981 )
2018
5
Macrostomia: A Practical Guide for Plastic and Reconstructive Surgeons. ( 26703052 )
2016
6
Unilateral macrostomia in the newborn: a rare congenital anomaly of the oral commissure. ( 27793865 )
2016
7
Asyndromic bilateral transverse facial cleft. ( 23634347 )
2013
8
Transverse facial cleft: A series of 17 cases. ( 22279276 )
2011
9
Macrostomia: a report of three cases. ( 21301310 )
2011
10
Refined simple line closure for macrostomia repair: designing a mucosal triangular flap on the commissure region. ( 19464904 )
2009
11
Myoplasty for congenital macrostomia. ( 18333640 )
2008
12
An isolated bilateral pure macrostomia in a 2-year-old girl. ( 18812873 )
2008
13
Repair of transverse facial cleft in hemifacial microsomia: long-term anthropometric evaluation of commissural symmetry. ( 17700125 )
2007
14
Bilateral macrostomia associated with aqueductal stenosis and glial heterotopias. ( 17760484 )
2007
15
Bilateral macrostomia as an isolated pathology. ( 17214527 )
2007
16
Commissuroplasty for macrostomia. ( 17538340 )
2007
17
Anesthetic management of a pediatric patient with rare bilateral macrostomia. ( 17683415 )
2007
18
Newborn with transverse facial cleft associated with polyhydramnios. ( 11840252 )
2002
19
Invited discussion of surgical repair for congenital macrostomia: vermilion square flap method. ( 11862042 )
2002
20
Congenital macrostomia. ( 11241011 )
2001
21
Lateral facial clefts (macrostomia). ( 11562056 )
2001
22
Surgical repair for congenital macrostomia: vermilion square flap method. ( 11756833 )
2001
23
New surgical technique for macrostomia repair with two triangular flaps. ( 10697179 )
2000
24
Modified technique in surgical correction of macrostomia. ( 9662008 )
1998
25
Congenital macrostomia--transverse facial cleft. ( 7954003 )
1994
26
Mental retardation, macrostomia and hyperpnoea syndrome. ( 8489799 )
1993
27
Simple line closure for macrostomia repair. ( 1493534 )
1992
28
Focal dermal hypoplasia syndrome with incomplete transverse facial cleft and tumour of the lips. ( 2920166 )
1989
29
Anatomical considerations in the repair of macrostomia. ( 3364924 )
1988
30
Advancement of oral commissure in correcting mild macrostomia. ( 3994265 )
1985
31
Bilateral macrostomia in one of monozygotic twins. ( 6588347 )
1984
32
Incorporation of the W-plasty in repair of macrostomia. ( 7146158 )
1982
33
Commissuroplasty and myoplasty for macrostomia. ( 7294660 )
1981
34
Ablepheron macrostomia syndrome. ( 913905 )
1977
35
Macrostomia. a modified technique of surgical repair. ( 65084 )
1976
36
Bilateral macrostomia as an isolated deformity. ( 4694559 )
1973
37
MACROSTOMIA WITH AURICULAR APPENDAGES. ( 14155474 )
1964
38
Unilateral macrostomia; a case report. ( 15397289 )
1949
39
Two cases of macrostomia described with some observations on the incidence of defective development of the mandibular arch in the sheep. ( 18151019 )
1949

Variations for Macrostomia, Isolated

ClinVar genetic disease variations for Macrostomia, Isolated:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 FBN1 NM_000138.4(FBN1): c.5183C> T (p.Ala1728Val) single nucleotide variant Pathogenic/Likely pathogenic rs1131691804 GRCh37 Chromosome 15, 48755320: 48755320
2 FBN1 NM_000138.4(FBN1): c.5183C> T (p.Ala1728Val) single nucleotide variant Pathogenic/Likely pathogenic rs1131691804 GRCh38 Chromosome 15, 48463123: 48463123
3 POGZ NM_015100.3(POGZ): c.2771delC (p.Pro924Argfs) deletion Pathogenic GRCh37 Chromosome 1, 151378740: 151378740
4 POGZ NM_015100.3(POGZ): c.2771delC (p.Pro924Argfs) deletion Pathogenic GRCh38 Chromosome 1, 151406264: 151406264
5 subset of 25 genes:ELN GRCh37/hg19 7q11.23(chr7: 72772522-74133319) copy number loss Pathogenic GRCh37 Chromosome 7, 72772522: 74133319

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 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
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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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