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Goldenhar syndrome

Also known as: Oculoauriculovertebral Dysplasia, Facio-auriculo-vertebral Dysplasia, Oculoauriculovertebral Spectrum (OAVS)

Background

The main features of this condition are under-development of one ear (which may even be completely absent) associated with under-development of the jaw and cheek. When this is the only problem and affects just one side of the face, the condition is often referred to as hemi-facial microsomia. When it is associated with other problems, however, particularly of the vertebrae (the bony segments making up the spinal column), usually in the neck, or when there is involvement of both sides of the face (usually less severe on one side), it may be referred to as Goldenhar syndrome (or oculo-auriculo-vertebral dysplasia). It is likely, however, that hemi-facial microsomia and Goldenhar syndrome represent two ends of a spectrum of the same overall condition, the so-called oculo-auriculo-vertebral spectrum (OAVS).

Credits

Medical text written November 1999 by Dr JA Hulse, Consultant Paediatrician, Maidstone Hospital, Maidstone, UK. Last updated May 2018 by Professor Edward S Tobias, Professor in Genetic Medicine and Honorary Consultant, University of Glasgow, UK.

Although great care has been taken in the compilation and preparation of all entries to ensure accuracy, we cannot accept responsibility for any errors or omissions. Any medical information is provided for education/information purposes and is not designed to replace medical advice by a qualified medical professional.

What are the symptoms?

The muscles of the affected side of the face are under-developed and there are often skin tags or pits in front of the ear, or in a line between the ear and the corner of the mouth. There are often abnormalities of the middle ear and the ear canal may be completely absent. Hearing loss (one-sided) is extremely common.

There may also be eye abnormalities, including cysts and notches in the lids, squints and occasionally small eyes. Children at the Goldenhar end of the spectrum may, in some cases, have heart problems. A variety of kidney abnormalities may also be present. There are a number of other rarer congenital (present at birth) problems that may occur. Most individuals with Goldenhar syndrome are of normal intelligence, although some learning difficulties (see Learning Disability) can occur in about 10-15 per cent of cases. These are usually language problems as a result of hearing loss. There may also be speech and swallowing problems. Many babies with Goldenhar syndrome have poor weight gain in the first year or two of life.

What are the causes?

Small chromosome abnormalities or gene alterations have been found in a few cases but no consistent genetic abnormality (DNA change) has been identified as the cause of this condition. Various environmental causes have been suggested that may cause the incorrect development of facial structures in a baby developing in the womb.

How is it diagnosed?

Diagnosis of Goldenhar syndrome is made by a doctor (eg a paediatrician or clinical geneticist) based on typical features being noted in a physical examination as well as a full patient history. As there is no identified commonly-associated DNA alteration, a definitive genetic test cannot be offered. A child will need full assessment of their hearing and communication abilities and may require neck X-rays and possibly checks of the kidneys (by renal ultrasound) and heart (by echocardiogram). Both allow images of the organs to be recorded.

How is it treated?

Early identification and treatment of hearing loss is important and speech therapy is often necessary. Help may be required with managing feeding problems and encouraging weight gain in early infancy. Any associated abnormalities, such as the congenital heart problems, may need appropriate treatment. Plastic surgeons are now able to improve the growth of the face, particularly the jaw, by techniques that include the use of a device which is able to artificially lengthen the jaw bone. Children with Goldenhar syndrome may also need on-going orthodontic treatment.

Inheritance patterns and prenatal diagnosis

Inheritance patterns
Goldenhar syndrome is, in most cases, a sporadic condition - occurring by chance in a family. Only a few familial cases (instances of more than one case in a family) have been reported. In non-familial cases (where there are no other individuals in the same family who are affected by this condition), the chance of having another affected child is usually small.

Prenatal diagnosis
Prenatal ultrasound scanning may identify the condition in certain cases where facial or skeletal abnormalities are present. For affected families, genetic advice may be offered for future pregnancies.

Is there support?

Goldenhar UK

Email: info@goldenhar.org.uk
www.goldenhar.org.uk

The Group is a Registered Charity in England and Wales No. 1099642.  It provides information and support to families who have children with Goldenhar Syndrome , and organises annual Family Days to allow the families to meet, eat, drink and talk together.

Group details last updated May 2018.