Goldenhar syndrome; Hemi-facial Microsomia; First and Second Branchial Arch syndrome; Facio-Auricular Vertebral Spectrum Oculo-Auricular Vertebral Dysplasia

The main features of this condition are an unilateral under development of one ear (which may even not be present) associated with under development of the jaw and cheek on the same side of the face. When this is the only problem it is normally referred to as hemi-facial microsomia but when associated with other abnormalities, particularly of the vertebrae (hemi-vertebrae or under developed vertebrae, usually in the neck), it is referred to as Goldenhar syndrome. It is likely however, that these are two ends of the spectrum of the same condition.

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 and deafness (unilateral) is extremely common.

There are also eye abnormalities including dermoid and notches in the lids, squints and occasionally small eyes. Children with the Goldenhar end of the spectrum may have a variety of heart problems. A variety of kidney abnormalities may also be present. There are a number of other rarer congenital abnormalities that may occur. Most individuals with Goldenhar syndrome are of normal intelligence although learning difficulties can occur in about thirteen per cent of cases. These are usually language problems as a result of deafness. 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.

Diagnosis of Goldenhar syndrome is made clinically and no DNA abnormality has been identified. Various environmental causes have been suggested but not proven.

Early identification and treatment of deafness 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, through the use of bone distraction techniques (this is a device which is able to artificially lengthen the jaw bone). Children with Goldenhar syndrome may also need on-going orthodontic treatment.

Inheritance patterns
Goldenhar syndrome is almost always a sporadic condition with only a few very rare familial cases.

Prenatal diagnosis
Prenatal scanning may identify the condition in certain cases where facial or skeletal abnormalities are present. Prenatal scanning and genetic advice may be offered for future pregnancies but the risk of having another affected child is very small.

Medical text written November 1999 by Dr J A Hulse, Consultant Paediatrician, Maidstone Hospital, Maidstone, UK. Last reviewed December 2004 by Professor J M Connor, Head of Department and Honorary Consultant, Ferguson-Smith Centre for Clinical Genetics, Glasgow, UK.

Further Online Resources
Medical texts in The Contact a Family Directory are designed to give a short, clear description of specific conditions and rare disorders. More extensive information on this condition can be found on a range of reliable, validated web sites and links to them are included in the CD-ROM version of this Directory. Further information on these resources can be found in our Medical Information on the Internet article.

GOLDENHAR SUPPORT GROUP

Goldenhar Support Group
18 Nuffield Close
St. John's
Worcester
WR2 6JN
Web: http://www.goldenhar.org.uk

The Group is a National Registered Charity No. 1099642, established in 1989. It offers support for individuals and families and linking where possible. It publishes a two-monthly newsletter and has information available, details on request. The Group has around 30 members. To e-mail visit the website.

Group details last updated November 2007 .