Goldenhar Syndrome

What is Goldenhar Syndrome?

Goldenhar Syndrome (also known as oculoauicular dysplasia or oculoauriculo-vertebral spectrum) is a congenital disorder present at birth that typically affects the head, face and spine. Goldenhar syndrome was first documented in 1952 by Maurice Goldenhar, an ophthalmologist and general practitioner. The frequency of Goldenhar syndrome is one in every 3000-5000 live births with more males than females affected. Goldenhar syndrome normally affects one side of the face however it can affect both sides, often with a greater impact on the right side. The exact cause of the syndrome is unknown however cases are random and sporadic and with rare cases of inheritance from an affected parent.

What are the signs and symptoms?

Individuals with this syndrome typically possess the following characteristics:

Spinal abnormalities, leading to scoliosis, kyphosis or both
Abnormal rib structure including missing or fused ribs, leading to poor growth, thoracic insufficiency and diminished lung function
Diminished lung function due to spinal curves and abnormal growth patterns that can lead to thoracic insufficiency syndrome
A range of craniofacial abnormalities including; underdeveloped facial muscles and cheeckbones, a wider than normal mouth and larger than normal upper jaw, cleft lip or cleft palate, benign cysts or growths on the eyes (ocular dermoid cysts), partially formed or totally absent ear (microtia)
Hearing loss, usually in one ear; can be partial or full deafness on the affected side
Cardiac defects
Respiratory issues
Kidney issues
Central nervous system defects

How does a speech pathologist help?

A speech pathologist will initially be involved to do a feeding assessment to ensure the child is safe for oral intake. However a number of surgical procedures are normally undertaken initially which in turn assist with speech and language development. This may include grafting to correct the cheek bones, jaw surgery, eye surgery, ear reconstruction, staged orthodontics or palatal closure. These procedures all assist with the child’s oral speech production, development of vocabulary, use of a signing system or alternative communication method depending on the severity of the symptoms post surgery.

The speech pathologist may also recommend a referral for a hearing assessment in case hearing aids are required. This is also essential to ensure that the child is receiving the proper auditory input in order for speech therapy to be most effective. Therapy sessions are different for each case and are tailored to the individuals needs. Intervention typically consists of articulation therapy targeted at correct production of speech sounds, modelling and instruction regarding the use of expressive language structures and development of receptive language concepts.