Goldenhar Syndrome

 

What is Goldenhar Syndrome ?

Goldenhar syndrome is a congenital condition that is characterized by abnormalities if the face, head and spine. Goldenhar syndrome is also referred to as oculoauriculo-vertebral spectrum or oculoauicular dysplasia.

Goldenhar syndrome is a form of hemifacial microsomia, which also includes benign growths of the eyelid or the eyeball. Hemifacial microsomia can develop as a standalone condition or in concurrence with Goldenhar syndrome.

The symptoms of Goldenhar syndrome differs greatly from one affected individual to another with varying degrees of severity. Goldenhar syndrome generally tends to one side of the face, with the right side being more commonly and severely affected, though it can affect both sides as well.

The rate of incidence for Goldenhar syndrome is one in every 3000 to 5000 live births. Males are more vulnerable to the condition as compared to females. The condition was first diagnosed and described by Maurice Goldenhar, an American general practitioner and ophthalmologist.

 Goldenhar syndrome symptoms 

The signs and symptoms of Goldenhar syndrome tend to vary in affected individuals. Some of the distinctive symptoms of the disorder are discussed below:

  • The muscles of the face are underdeveloped
  • The upper jaw has a flat appearance and is generally larger than those seen in normal individuals
  • Some of the eye defects involve benign tumors, tiny orifices, crossed eyes and the upper eyelid tissue may be absent
  • The cheekbones are incompletely formed
  • The lower jaw is very small
  • The vertebrae may be fused, underdeveloped or missing
  • The ears and/or ear canals may be malformed, tiny and/or missing
  • Organs such as the kidneys and heart may be underdeveloped
  • The lung may have abnormalities

There are some other symptoms that may affect some patients of Goldenhar syndrome. They include:

  • Abnormalities of the spine curvature such as scoliosis
  • A cleft palate and/or a cleft lip
  • Respiratory, vision and hearing difficulties
  • An eye may be missing
  • The neck bones may experience fusion
  • The ribs may be abnormal

Causes of Goldenhar syndrome

Goldenhar syndrome has no known causes.

It is believed that an accidental rupture of a blood vessel in the developing face of the fetus can result in any or both of the below mentioned two problems:

  • The blood flow to any one side of the face, or both the sides of the face, is significantly decreased, which prevents it from growing normally.
  • The development of blood clots which in turn affect the growth rate and prevent the facial structures from forming at the normal rate

Goldenhar syndrome has no genetic causes or links. It is generally caused due to random events which are sporadic at best. Hence, the risk of a person with Goldenhar syndrome conceiving a child with the condition is miniscule or none. Similarly, the risk of parents who have a child with Goldenhar syndrome to conceive another child with the disorder is also minimal or none.

There is no link between what the mother or the father did or did not do, with the occurrence of Goldenhar syndrome. In certain cases, some environmental factors have been known to increase the risk to developing Goldenhar syndrome. It has been noted that soldiers who were a part of the Gulf War, have a higher rate of conceiving children with Goldenhar syndrome. However, this report is based on circumstantial evidence.

 Goldenhar Syndrome treatment

The treatment of child born with Goldenhar syndrome is based on a thorough evaluation of all the factors, including a detailed observation of the level of damage done to the growth and functions of the underlying structures, such as the facial skeleton, the spinal parts like cervical vertebrae, the brain, the different sensory organs and the central nervous system.

Children with Goldenhar syndrome who have abnormalities of the facial skeleton are studied for any alterations in the soft tissues of the mouth, the face and the pharynx. A quick and effective diagnosis is vital to prevent various problems with speaking, breathing and swallowing and to opt for the most effective form of treatment.

Since the instructions for abnormal growth of various bodily structures in individuals with Goldenhar syndrome are programmed at the embryonic stage itself, such abnormal patterns of growth continue through the development cycle of the affected child. Hence, treatment of the various symptoms associated with Goldenhar syndrome is carried out in stages at the time deemed appropriate by the many doctors.

The treatments for the various symptoms of Goldenhar syndrome are as follows:

  • Speech problems can be resolved via speech therapy
  • Corrective surgery may be required for dental anomalies
  • Hearing aids may be used to overcome hearing difficulties
  • Physical therapy may be needed to improve physical problems
  • Psychotherapy, counseling and family support may be necessary for the child to effectively deal with emotional and social problems that may arise due to the presence of deformities
  • Grafting and surgical intervention may be needed to correct abnormalities of the jaw, cheekbones, the ears and eyes and the bones.

Goldenhar syndrome pictures

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