Hemifacial microsomia

Classification according to ICD-10
Q75.8	Other specified congenital malformations of the skull and facial bones
Q87.0	Congenital malformation syndromes with predominant involvement of the face
ICD-10 online (WHO version 2019)

The Hemifacial microsomia (HFM) ( latin for "short stature a half of the face") is a very rare, with the Craniofacial microsomia to be counted congenital disease with the main features of an enlarged, recessed, or lack of eye ( oculi ), an microtia with untrained ear canal ( Auriculo ), a one-sided growth disorder of the face , a chin shifted to the diseased side , one-sided higher corner of the mouth.

A synonym is sometimes the term syndrome Goldenhar used, but in which an additional contribution of internal organs and / or the spine is present.

Synonyms are: syndrome of the first gill arch; Laterofacial microsomia; Otomandibular dysostosis; Otomandibular syndrome; Ocular auriculovertebral dysplasia; English Oculoauriculovertebral Spectrum; Facioauriculovertebral Sequence (FAV SEQUENCE)

distribution

The frequency is estimated at 1 in 5,600, inheritance is autosomal dominant .

root cause

The disease is probably based on mutations at the 14q32 gene location.

diagnosis

The diagnosis is based on clinical findings. A suspected prenatal diagnosis is possible using fine ultrasound .

treatment

The surgical treatment for correction takes place in several steps that are adapted to the growth. a. with callus distraction and genioplasty .

In addition to the Goldenhar syndrome mentioned above, hemifacial microsomia is also a component of Moeschler-Clarren syndrome (synonym: microsomia, hemifacial - radial defects )

literature

• L. Gripp, W. Hüsgen, HG Luhr, HA Merten, G. Wiese: Hemifacial microsomia: extraoral appliance for the early treatment of an infant. Literature review and case report. In: Journal of orofacial orthopedics = progress in orthodontics: Organ / official journal German Society for Orthodontics. Vol. 58, No. 6, 1997, pp. 352-360, PMID 9433054 (Review).

Individual evidence

1. ^ Gene Reviews
2. ↑ Microsomia, hemifacial. In: Orphanet (Rare Disease Database).
3. ↑ ^{a b} Hemifacial microsomia.  In: Online Mendelian Inheritance in Man . (English)
4. ^ Genetics Home References
5. ↑ Goldenhar Syndrome. In: Orphanet (Rare Disease Database).
6. ↑ RCM Hennekam, ID Krantz, JE Allanson: Branchial arch and oral-acral disorders. In: Gorlin's Syndromes of the Head and Neck. (5th ed.), New York, Oxford University Press, 2010, pp. 879-887, ISBN 978-0-19-530790-0
7. ↑ P. Martinelli, GM Maruotti, A. Agangi, LL Mazzarelli, G. Bifulco, D. Paladini: Prenatal diagnosis of hemifacial microsomia and ipsilateral cerebellar hypoplasia in a fetus with oculoauriculovertebral spectrum. In: Ultrasound in Obstetrics & Gynecology  : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology. Vol. 24, No. 2, August 2004, pp. 199-201, doi: 10.1002 / uog.1118 , PMID 15287060 (review).
8. ↑ JS Seo, YC Roh, JM Song, WW Song, HS Seong, SY Kim, DS Hwang, UK Kim: Sequential treatment for a patient with hemifacial microsomia: 10 year-long term follow up. In: Maxillofacial plastic and reconstructive surgery. Vol. 37, No. 1, December 2015, p. 3, doi: 10.1186 / s40902-015-0004-6 , PMID 25664313 , PMC 4317524 (free full text).
9. ↑ Microsomia, hemifacial - radial defects. In: Orphanet (Rare Disease Database).
10. ↑ HEMIFACIAL MICROSOMIA WITH RADIAL DEFECTS.  In: Online Mendelian Inheritance in Man . (English)

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