Goldenhar Syndrome
| Classification according to ICD-10 | |
|---|---|
| Q87.0 | Congenital malformation syndromes with predominant involvement of the face |
| ICD-10 online (WHO version 2019) | |
The Goldenhar syndrome is a rare congenital malformation enlarged one with the main features, recessed or missing eye ( oculus ), a malformation of auricle ( auricula ) with untrained ear canal , a one-sided growth disorder of the face , a shifted to the affected side chin , single higher standing corner of the mouth, and changes in the vertebral bodies ( corpora vertebrae ).
The name refers to the author of the comprehensive description in 1952 by the Belgian - US ophthalmologist and general practitioner Maurice Goldenhar (1924-2001). It is sometimes used synonymously for hemifacial microsomia , in which, however, there is no involvement of internal organs or the spine .
Synonyms are: Goldenhar symptom complex , Goldenhar-Gorlin syndrome , oculo-auricular syndrome , oculo -auriculo-vertebral dysplasia ; Latin dysplasia oculo-auricularis (-vertebralis) , abbreviated OAV .
Occurrence
The male sex is affected more often in a ratio of 3 to 2. The incidence of Goldenhar syndrome is between 1: 3,000 to 1: 5,000. [1]
causes
The disease is based on mutations at gene location 14q32 in some of those affected . Most cases of OAV occur as a spontaneous mutation, autosomal dominant inheritance , but also autosomal recessive inheritance have been described.
The exact origin of the Goldenhar syndrome is not fully understood. It is likely an interruption in the blood supply or bleeding in the tissues that later develop into the ears and jaws during the embryonic period (30th to 45th day). This results in developmental disorders in the area of the first and second gill arches and the first pharynx. The severity of the symptoms depends on the time and extent of the damage. There is also evidence of a genetic cause in some cases, but most cases are sporadic. The risk of a patient with Goldenhar Syndrome passing it on to their offspring is very low. Various environmental factors are discussed as the cause, including drug abuse, use of cocaine , thalidomide , vitamin A , tamoxifen and maternal diabetes.
Clinical manifestations
Clinical criteria are:
- mostly strictly one-sided findings
- Facial asymmetry, hypoplasia of one half of the lower jaw
- Ears: ear hypoplasia, ear appendages, microtia , anotia, conductive hearing loss
- View: epibulbar dermoid, lipodermoids
- Malformations of the upper cervical spine : absence of vertebrae, clefts, hemivertebrae, fusions
- Kyphosis , scoliosis
- Heart defects, esophageal atresia, rib defects
- Uterine hypoplasia, ipsilateral renal agenesis
Further symptoms can be hearing problems , restricted facial expressions , one-sided reduced tongue , ankylosis of the cervical spine, cleft jaw / lip / palate or increased allergy tendency .
treatment
The treatment aims to have an oral and maxillofacial surgeon correct the jaw on the affected side , restore the outer ear, and build up the cheek.
Differential diagnosis
The Juberg-Hayward syndrome and the rodent syndrome must be differentiated .
Individual evidence
- ↑ a b c d e f Goldenhar syndrome. In: Orphanet (Rare Disease Database).
- ↑ Who named it
- ↑ M. Goldenhar: Associations malformatives de l'oeil et de l'oreille, en particulier le syndrome dermoïde epibulbaire-appendices auriculaires-fistula auris congenita et ses relations avec la dysostose mandibulo-faciale. In: Journal de génétique humaine. Volume 1, Genève 1952, pp. 243-282.
- ↑ a b Hemifacial microsomia. In: Online Mendelian Inheritance in Man . (English)
- ^ Genetics Home References
- ↑ Microsomia, hemifacial. In: Orphanet (Rare Disease Database).
- ↑ Bernfried Leiber (founder): The clinical syndromes. Syndromes, sequences and symptom complexes . Ed .: G. Burg, J. Kunze, D. Pongratz, PG Scheurlen, A. Schinzel, J. Spranger. 7., completely reworked. Edition. tape 2 : symptoms . Urban & Schwarzenberg, Munich et al. 1990, ISBN 3-541-01727-9 .
