The case of the baby who became the subject of
an interim care order on Newcastle Royal Victoria Infirmary’s
recommendation that she would need treatment for respiratory
difficulties, brought a little known disability to public
attention, writes Natalie Valios.
Goldenhar syndrome, also known as oculo
auriculo vertebral spectrum, is characterised by abnormalities of a
combination of the cheekbones, jaws, mouth, ear, eyes and the
vertebrae. The ear canal may be absent and unilateral deafness is
common. Facial abnormalities result in the face appearing smaller
on one side than the other and can include:
– Macpostoma: the opening of the mouth is
larger and extended towards one ear.
– Hypoplasia: facial muscles are
– Small or misshapen ears.
– Problems with the mouth, for example a lack
of saliva, or problems with the shape of the tongue or its use.
– Speech problems.
– Hemivertebrae: spinal vertebrae which are
small or not completely formed on one side.
– Prfauficular: skin tags.
– Underdevelopment of face muscles.
The disorder is often referred to as
hemifacial microsomia when abnormalities mainly affect the jaw,
mouth and ears and one side of the body. It is termed Goldenhar
syndrome when there are also irregularities with the vertebrae and
eyes. It is a rare disability, in most cases appears randomly with
no apparent cause, and little is known as to why it occurs.