Macrostomy

Classification according to ICD-10
Q18.4	Macrostomy
ICD-10 online (WHO version 2019)

The Macrostomia (from ancient Greek μακρὀς macros , German , tall ' and στόμα stoma , German , mouth opening' ) is a very rare congenital disease with too much mouth because of a cleft ( "cleft"). It is a horizontal fissure in the face as an elongated corner of the mouth, either merely as a skin furrow or sometimes as a gaping gap reaching up to the ear.

No other abnormalities before, is a rare Insulated Macrostomia , (synonyms: Commissural facial cleft , English lateral cleft, isolated; Commissurakl cleft, isolated, cleft Transverse, isolated) .

distribution

The frequency of macrostomy is given as 1 in 60,000 - 300,000 live births. The right side of the face is more often affected, as is the male gender.

pathology

The malformation is based on a disorder in the embryonic fusion of the maxillary and mandibular parts of the first branchial arch with the resulting inhibition of the development of the facial muscles.

In the context of syndromes

Most often, the macrostomy occurs with other malformations in the context of syndromes :

Ablepharon Macrostomy Syndrome
Angelman Syndrome
Baraitser-Winter syndrome , synonym: iris coloboma - ptosis - intellectual disability; Cerebro-fronto-facial syndrome type 3
Barber-Say Syndrome
Cabezas syndrome , synonym: mental retardation, X-linked, type Cabezas , mutations in the CUL4B gene at Xq24
Franceschetti Syndrome
Cardiac abnormalities-developmental delay-facial dysmorphism syndrome , mutations in the MED13L gene in chromosome 12 locus 24.21
Macrostomy - preauricular appendages - external ophthalmoplegia
Mandibulofacial dysostosis - macroblepharon - macrostomy , synonym: macroblepharon-ectropion-hypertelorism-macrostomy syndrome
Simpson-Golabi-Behmel Syndrome

history

The first description probably comes from JH Morgan from 1881 with two cases. (Quoted from R. H. Clifford)

literature

EM Kobraei, AK Lentz, KR Eberlin, N. Hachach-Haram, US Hamdan: Macrostomia: A Practical Guide for Plastic and Reconstructive Surgeons. In: The Journal of craniofacial surgery. Vol. 27, No. 1, January 2016, pp. 118-123, doi: 10.1097 / SCS.0000000000002294 , PMID 26703052 .
S. Gunturu, R. Nallamothu, RM Kodali, KR Nadella, LK Guttikonda, V. Uppaluru: Macrostomia: a review of evolution of surgical techniques. In: Case reports in dentistry. Volume 2014, 2014, p. 471353, doi: 10.1155 / 2014/471353 , PMID 25400956 , PMC 4220568 (free full text).
S. Buonocore, PN Broer, ME Walker, R. da Silva Freitas, D. Franco, N. Alonso: Macrostomia: a spectrum of deformity. In: Annals of plastic surgery. Volume 72, No. 3, March 2014, pp. 363-368, doi: 10.1097 / SAP.0b013e31826aefdf , PMID 23657042 .

Individual evidence

^ Medical lexicon
↑ Macrostomy. In: Online Mendelian Inheritance in Man . (English)
↑ Fissure of the face, commissural. In: Orphanet (Rare Disease Database).
^ P. Tessier: Anatomical classification of facial, cranio facial and latero facial cleft . In: Journal of Maxillofacial Surgery , Vol. 4, No. 2, 1976, pp. 69-92.
^ DB Hawkins, JW Miles, DC Seltzer: Bilateral macrostomia as an isolated deformity . In: J. Laryngol. Otolaryngol. , 87, 1973, pp. 309-313.
↑ Baraitser-Winter Syndrome. In: Orphanet (Rare Disease Database).
^ Cabezas syndrome. In: Orphanet (Rare Disease Database).
^ Mental retardation, X-linked, syndromic 15 (Cabezas type). In: Online Mendelian Inheritance in Man . (English)
↑ Cardiac abnormalities-developmental retardation-facial dysmorphism syndrome. In: Orphanet (Rare Disease Database).
^ Mental retardation and distinctive facial features with or without cardiac defects. In: Online Mendelian Inheritance in Man . (English)
↑ Macrostomy - preauricular appendages - external ophthalmoplegia. In: Orphanet (Rare Disease Database).
↑ Mandibulofacial dysostosis - macroblepharon - macrostomy. In: Orphanet (Rare Disease Database).
^ JH Morgan. In: Medical Times and Gazette , London, II, 1881, p. 613
^ RH Clifford: Unilateral macrostomia; a case report. In: Annals of surgery. Volume 130, No. 6, December 1949, pp. 1098-1100, illust, PMID 15397289 , PMC 1616310 (free full text).

[1] Medical lexicon

[2] Macrostomy. In: Online Mendelian Inheritance in Man . (English)

[3] Fissure of the face, commissural. In: Orphanet (Rare Disease Database).

[4] P. Tessier: Anatomical classification of facial, cranio facial and latero facial cleft . In: Journal of Maxillofacial Surgery , Vol. 4, No. 2, 1976, pp. 69-92.

[5] DB Hawkins, JW Miles, DC Seltzer: Bilateral macrostomia as an isolated deformity . In: J. Laryngol. Otolaryngol. , 87, 1973, pp. 309-313.

[6] Baraitser-Winter Syndrome. In: Orphanet (Rare Disease Database).

[7] Cabezas syndrome. In: Orphanet (Rare Disease Database).

[8] Mental retardation, X-linked, syndromic 15 (Cabezas type). In: Online Mendelian Inheritance in Man . (English)

[9] Cardiac abnormalities-developmental retardation-facial dysmorphism syndrome. In: Orphanet (Rare Disease Database).

[10] Mental retardation and distinctive facial features with or without cardiac defects. In: Online Mendelian Inheritance in Man . (English)

[11] Macrostomy - preauricular appendages - external ophthalmoplegia. In: Orphanet (Rare Disease Database).

[12] Mandibulofacial dysostosis - macroblepharon - macrostomy. In: Orphanet (Rare Disease Database).

[13] JH Morgan. In: Medical Times and Gazette , London, II, 1881, p. 613

[14] RH Clifford: Unilateral macrostomia; a case report. In: Annals of surgery. Volume 130, No. 6, December 1949, pp. 1098-1100, illust, PMID 15397289 , PMC 1616310 (free full text).