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Goldenhar Syndrome
Thursday, 22 July 2004
Monday, 29 November 2004
Oculo-Auriculo-Veterbral Spectrum, Hemifacial microsomia

What

Goldenhar Syndrome is a rare genetic syndrome that is present at birth and results in multiple anomalies of the face. There is a wide spectrum of symptoms and facial involvement with the structures most commonly affected being the cheekbones, jawbones, and the bony structures of the lower skull

Who

Internationally, the incidence of Goldenhar syndrome is estimated to be around 1 in 5,000 to 25,000 live births. There is no racial or socioeconomic predilection but it is more common in males.

Signs and Symptoms

Children with Goldenhar syndrome may display some or all of the following:

  • Eye anomalies – benign tumors (dermoids), decreased tear production.
  • Ear anomalies – ear tags, hearing loss, small ears, malformed ears.
  • Head/face anomalies – underdeveloped cheek and jaw bones, one side of the face is smaller, numbness and tingling from paralysis of the facial nerve, facial droop
  • Spine/vertebral anomalies – missing vertebrae, fused ribs, abnormal curvature of the spine, hemivertebrae or half a vertebrae
  • Heart anomalies – persistent hole in the heart connecting the two atrial chambers (known as a patent foramen ovale).
  • Lung effects – frequent pneumonia infections. The facial abnormalities are more marked on one side of the face than the other.

Possible Causes

Goldenhar syndrome results from defects in structures that originate from developing fetal structures known as “branchial arches.” Researchers have theorized that decreased blood flow or a hemorrhage in the region of the “branchial arches” may be a mechanism for this disease. Most cases of Goldenhar syndrome are sporadic and inherited cases are rare (about 1-2% of all cases).

Diagnosis

Making the diagnosis of Goldenhar syndrome relies on recognition of the associated physical findings. There is no specific blood test that can diagnose Goldenhar syndrome. The gene defect(s) responsible for Goldenhar syndrome has not been found but the diagnosis can be made with the help of a geneticist or dysmorphology expert.

Treatment

There is unfortunately no cure for Goldenhar syndrome. The treatment is focused on supportive care and ensuring that age appropriate needs are met. In newborns, the tongue can obstruct the airway at night and a temporary tracheostomy (hole in neck to allow breathing) may be needed. Surgical reconstruction of jaw and cheekbones through bone lengthening procedures can be explored in early childhood. If feeding and nutrition are problems, a temporary gastrostomy tube (feeding tube into the stomach) can be placed. Ear reconstruction and dental/orthodontic repairs are usually pursued in late childhood. In addition to surgery, speech therapy, physical therapy, and occupational therapy are important measures to preserve milestones.

Prognosis

Children with Goldenhar syndrome have normal life spans and normal intelligence.

Connect with other parents

In the spirit of community and support, Madisons Foundation offers the unique service of connecting parents of children with rare diseases. If you would like to be connected to other parents of children with this disease, please fill out this brief form.

Weblinks

The National Craniofacial Association
National organization providing very practical information.

Goldenhar Syndrome Support Network
Canadian based support group.

Contact a family
UK based support website.

Yahoo Groups
Site for parents to share stories and obtain support.

Google Search for Goldenhar Syndrome

References and Sources

1. Araneta, MR, et al. (1997) Goldenhar syndrome among infants born in military hospitals to Gulf War veterans. Teratology 56(4):244-51. 2. Berker, N., Acaroglu G., and Soykan E. (2004) Goldenhar’s Syndrome (oculo-auriculo vertebral dysplasia) with congenital facial nerve palsy. Yonse Med J. 45(1): 157-60.