Goldenhar syndrome
Encyclopedia
Goldenhar syndrome is a rare congenital defect characterized by incomplete development of the ear, nose, soft palate
, lip, and mandible. It is associated with anomalous development of the first branchial arch
and second branchial arch. Common clinical manifestations include limbal dermoids, preauricular skin tags, and strabismus
.
The term is sometimes used interchangeably with hemifacial microsomia
, although this definition is usually reserved for cases without internal organ/verterbrae disruption.
It affects between 1/3500 to 1/26000 live births in the UK.
, lip, and mandible on usually one side of the body. Additionally, some patients will have growing issues with internal organs, especially heart, kidneys, and lungs. Typically, the organ will either not be present on one side or will be underdeveloped. Note that whilst it is more usual for there to be problems on only one side, it has been known for defects to occur bilaterally (approximate incidence 10% of confirmed GS cases).
Other problems can include severe scoliosis
(twisting of the vertebrae), limbal dermoids, and hearing loss (see hearing loss with craniofacial syndromes
).Deafness/blindness in one or both ears/eyes.
An increase in Goldenhar syndrome in the children of Gulf War veterans has been suggested but the difference was shown to be statistically insignificant.
Hearing aids placed in one or both ears.
Some patients with Goldenhar syndrome will require assistance as they grow by means of hearing aids or glasses.
Soft palate
The soft palate is the soft tissue constituting the back of the roof of the mouth. The soft palate is distinguished from the hard palate at the front of the mouth in that it does not contain bone....
, lip, and mandible. It is associated with anomalous development of the first branchial arch
First branchial arch
The first branchial arch, also called the first pharyngeal arch and mandibular arch, is the first of six branchial arches that develops in fetal life during the fourth week of development...
and second branchial arch. Common clinical manifestations include limbal dermoids, preauricular skin tags, and strabismus
Strabismus
Strabismus is a condition in which the eyes are not properly aligned with each other. It typically involves a lack of coordination between the extraocular muscles, which prevents bringing the gaze of each eye to the same point in space and preventing proper binocular vision, which may adversely...
.
The term is sometimes used interchangeably with hemifacial microsomia
Hemifacial microsomia
Hemifacial microsomia is a congenital disorder that affects the development of the lower half of the face, most commonly the ears, the mouth and the mandible. It can occur on one side of the face or both. If severe it can lead to difficulties in breathing, obstructing the trachea and requiring a...
, although this definition is usually reserved for cases without internal organ/verterbrae disruption.
It affects between 1/3500 to 1/26000 live births in the UK.
Symptoms
Chief markers of Goldenhar syndrome are incomplete development of the ear, nose, soft palateSoft palate
The soft palate is the soft tissue constituting the back of the roof of the mouth. The soft palate is distinguished from the hard palate at the front of the mouth in that it does not contain bone....
, lip, and mandible on usually one side of the body. Additionally, some patients will have growing issues with internal organs, especially heart, kidneys, and lungs. Typically, the organ will either not be present on one side or will be underdeveloped. Note that whilst it is more usual for there to be problems on only one side, it has been known for defects to occur bilaterally (approximate incidence 10% of confirmed GS cases).
Other problems can include severe scoliosis
Scoliosis
Scoliosis is a medical condition in which a person's spine is curved from side to side. Although it is a complex three-dimensional deformity, on an X-ray, viewed from the rear, the spine of an individual with scoliosis may look more like an "S" or a "C" than a straight line...
(twisting of the vertebrae), limbal dermoids, and hearing loss (see hearing loss with craniofacial syndromes
Hearing loss with craniofacial syndromes
Hearing loss with craniofacial syndromes is a common occurrence. Many of these multianomaly disorders involve structural malformations of the outer or middle ear, making a significant hearing loss highly likely.- Treacher Collins syndrome :...
).Deafness/blindness in one or both ears/eyes.
Causes
The cause of Goldenhar syndrome is largely unknown. However, it is thought to be multifactorial, although there may be a genetic component, which would account for certain familial patterns. It has been suggested that there is a branchial arch development issue late in the first trimester.An increase in Goldenhar syndrome in the children of Gulf War veterans has been suggested but the difference was shown to be statistically insignificant.
Treatment
Treatment is usually confined to such surgical intervention as may be necessary to help the child to develop e.g. jaw distraction/bone grafts, occular dermoid debulking, repairing cleft palate/lip, repairing heart malformations, spinal surgery.Hearing aids placed in one or both ears.
Some patients with Goldenhar syndrome will require assistance as they grow by means of hearing aids or glasses.
External links
- Goldenhar UK Support Group
- FACES: The National Craiofacial Association - Assisting children and adults with facial differences due to birth defects, trauma, or cancer
- Changing Faces - A UK based charity working with facial disfigurement
- Cleft Lip and Palate Foundation of Smiles - Helping patients and families born with craniofacial differences and related syndromes