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128:. The severity of each abnormality can vary from minor to severe. Environmental contaminants may play a role in causing macrostomia. Many affected individuals were found in Lagos, an industrial area of Nigeria, where water supplies are known to be contaminated by improper disposal of industrial and domestic waste.
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Likely due to the complexity of macrostomia, many theories have been provided over time in an attempt to define its origin. There is no definitive mechanism to explain its development but it is likely that there are interactions between genes and the environment resulting in improper development of
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The facial cleft in this case results in a more severe muscle separation even though there is not a true open cleft. Bones in the region remain unaffected and the phenotype appears as an indentation of the cheek rather than an open cleft. The external ear in this phenotype can also be deformed.
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Macrostomia is characterized as a physical abnormality that causes clefts to form on the face of affected individuals. These clefts can form on either or both sides of the face, but they are most commonly seen on the right cheek and have a higher rate of occurrence in males. Macrostomia is very
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There are 4 distinct variations of macrostomia. Classifications are a complete lateral facial cleft, simple macrostomia, macrostomia with diastasis of the facial musculature, and isolated facial musculature diastasis. Each has a different physical appearance with varying levels of severity.
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The facial cleft runs from the corner of the mouth towards the bottom of the ear. The outside of the ear on the affected side of the face appears as normal and a region of soft tissue connects the cleft to the right lateral posterior hard palate. Internally there is no soft palate.
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signalling pathway that is involved with development. PTCH2 inhibits the smooth frizzled class receptor (SMO) which when active is responsible for increasing transcription rates of many genes involved with development and differentiation. PTCH2 (Val147Ile) is a
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Clefts in this variant are slightly more severe than the ones seen in simple macrostomia. It also does not have bone deformities, but it does include minor soft tissue deformities. The defining feature is muscle diastasis which is separation of the
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This version of macrostomia is less severe because it does not affect the facial muscles and is not associated with any soft tissue or bone deformities. A small cleft(s) extends from the mouth and can be repaired surgically.
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The cleft associated with macrostomia is associated with improper or failed fusion of the mandibular and maxillary processes during embryonic development. This can lead to a variety of abnormalities involving
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irregular and on average occurs only once in every 150,000 to 300,000 live births. It's unusual for macrostomia to occur on its own and it is included as a symptom for many diseases including
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processes. The clefts cause problems with facial muscle development. The origin of macrostomia is not yet fully understood: it could have multiple causes.
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Fan, Zhipeng (2009). "A Susceptibility Locus on 1p32-1p34 for congenital macrostomia in a
Chinese family and identification of a novel PTCH2 mutation".
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Fadeyibi, Idowu (20 December 2010). "Macrostomia: a study of 15 patients seen in Lagos, Nigeria and proposal for a classification of severity".
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Buonocore, Samuel (March 2014). "Macrostomia: A Spectrum of
Deformity".
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95:. The clefts result from improper development and fusion of the
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159:. This phenotype can also be partially corrected with surgery.
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189:. The responsible mutation is found on the short arm of
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Macrostomia can be partially classified as a heritable
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244:The transmembrane protein encoded by PTCH2 is 1204
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261:during development and links it to macrostomia.
818:Congenital disorders of eye, ear, face and neck
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177:the first and sometimes second brachial arch.
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75:that is unusually wide. The term is from the
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413:Journal of Plastic Surgery and Hand Surgery
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248:long and is involved with inhibiting the
50:Macrostomia from bilateral mouth fissures
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297:, Henry George Liddell, Robert Scott,
257:which results in a lack of control of
163:Isolated facial musculature diastasis
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467:American Journal of Medical Genetics
514:Online Mendelian Inheritance in Man
388:Online Mendelian Inheritance in Men
201:meaning that it only occurs in one
197:32-34 (1p32-1p34). The mutation is
150:Diastasis of the facial musculature
671:malformations and deformations of
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229:being incorporated instead of an
83:meaning "large" and from Greek
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233:at the 147th position during
132:Complete lateral facial cleft
425:10.3109/2000656x.2010.517668
350:10.1097/SAP.0b013e31826aefdf
283:Dorland's Medical Dictionary
797:Preauricular sinus and cyst
758:Hallermann–Streiff syndrome
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187:autosomal dominant disease
124:, facial muscles, and the
338:Annals of Plastic Surgery
255:loss of function mutation
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207:single base substitution
384:"Macrostomia, Isolated"
299:A Greek-English Lexicon
93:craniofacial microsomia
510:"Sonic Hedgehog; SHH"
239:transmembrane protein
107:Phenotypic variations
763:Branchial cleft cyst
479:10.1002/ajmg.a.32647
225:. This results in a
27:Unusually wide mouth
540:Cancer Genetics Web
122:subcutaneous tissue
536:"SMO Gene Summary"
508:McKusick, Victor.
141:Simple macrostomia
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237:of the resulting
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30:Medical condition
16:(Redirected from
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730:Macrocheilia
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213:of the gene
209:in the 11th
199:heterozygous
191:chromosome 1
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71:refers to a
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781:Webbed neck
717:Microstomia
712:Macrostomia
259:cell growth
246:amino acids
235:translation
217:changes an
87:, "mouth".
69:Macrostomia
36:Macrostomia
748:Microgenia
699:Otocephaly
669:Congenital
621:DiseasesDB
545:9 November
519:9 November
393:8 November
265:References
231:isoleucine
97:mandibular
18:Macrostoma
790:Ungrouped
433:2000-656X
195:locations
172:Mechanism
101:maxillary
56:Specialty
812:Category
487:19208383
441:21446807
366:23100377
358:23657042
157:masseter
615:D008265
495:2328208
223:guanine
219:adenine
181:Genetic
79:prefix
604:744.83
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227:valine
203:allele
81:makro-
707:mouth
626:30802
589:Q18.4
491:S2CID
362:S2CID
295:στόμα
215:PTCH2
85:στόμα
77:Greek
73:mouth
773:Neck
743:chin
685:Face
677:neck
675:and
673:face
610:MeSH
599:9-CM
547:2015
521:2015
483:PMID
437:PMID
429:ISSN
395:2015
354:PMID
205:. A
118:skin
99:and
725:lip
694:jaw
595:ICD
580:ICD
475:doi
471:149
421:doi
346:doi
280:at
221:to
193:in
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647:v
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572:D
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Text is available under the Creative Commons Attribution-ShareAlike License. Additional terms may apply.
