Goldenhar syndrome: Difference between revisions
mNo edit summary |
CSV import |
||
| Line 1: | Line 1: | ||
{{SI}} | |||
{{Infobox medical condition | |||
| name = Goldenhar syndrome | |||
| image = [[File:Goldenhar_syndrome.png|250px]] | |||
| caption = A child with Goldenhar syndrome | |||
| synonyms = Oculo-auriculo-vertebral spectrum (OAVS), hemifacial microsomia | |||
| pronounce = | |||
| field = [[Medical genetics]] | |||
| symptoms = [[Facial asymmetry]], [[ear]] abnormalities, [[eye]] abnormalities, [[spinal]] deformities | |||
| complications = [[Hearing loss]], [[vision problems]], [[breathing difficulties]] | |||
| onset = Congenital | |||
| duration = Lifelong | |||
| causes = Unknown, possibly genetic and environmental factors | |||
| risks = | |||
| diagnosis = [[Clinical examination]], [[imaging studies]] | |||
| differential = [[Treacher Collins syndrome]], [[Nager syndrome]] | |||
| prevention = | |||
| treatment = [[Surgical intervention]], [[hearing aids]], [[speech therapy]] | |||
| medication = | |||
| prognosis = Variable, depends on severity | |||
| frequency = 1 in 3,500 to 1 in 5,600 live births | |||
| deaths = | |||
}} | |||
= Goldenhar Syndrome = | = Goldenhar Syndrome = | ||
[[File:Goldenha Syndrome 2DACS.png|left|thumb|px1500|Goldenhar Syndrome]] | |||
[[File:Goldenha Syndrome 2DACS.png|thumb|px1500|Goldenhar Syndrome]] | |||
Goldenhar Syndrome, also known as Oculo-Auriculo-Vertebral (OAV) syndrome, is a rare congenital condition characterized by the incomplete development or absence of facial structures, primarily affecting one side of the face. | Goldenhar Syndrome, also known as Oculo-Auriculo-Vertebral (OAV) syndrome, is a rare congenital condition characterized by the incomplete development or absence of facial structures, primarily affecting one side of the face. | ||
== Introduction == | |||
== | |||
Goldenhar Syndrome is a birth defect that leads to abnormalities in the structure of the face. Affected individuals may have partially formed or absent ears, nose, lip, mandible (lower jaw), and/or soft palate. The condition can vary in severity and can be associated with other health issues. | Goldenhar Syndrome is a birth defect that leads to abnormalities in the structure of the face. Affected individuals may have partially formed or absent ears, nose, lip, mandible (lower jaw), and/or soft palate. The condition can vary in severity and can be associated with other health issues. | ||
== Etiology == | == Etiology == | ||
The exact cause of Goldenhar Syndrome is not fully understood, but it is believed to be a combination of [[Genetics|genetic]] and [[Environmental Factors|environmental factors]]. There is no known single cause, and the condition occurs sporadically. | The exact cause of Goldenhar Syndrome is not fully understood, but it is believed to be a combination of [[Genetics|genetic]] and [[Environmental Factors|environmental factors]]. There is no known single cause, and the condition occurs sporadically. | ||
<youtube> | <youtube> | ||
title='''{{PAGENAME}}''' | title='''{{PAGENAME}}''' | ||
movie_url=http://www.youtube.com/v/8zQLjGWdloI | movie_url=http://www.youtube.com/v/8zQLjGWdloI | ||
&rel=1 | &rel=1 | ||
| Line 23: | Line 39: | ||
height=600 | height=600 | ||
</youtube> | </youtube> | ||
== Clinical Features == | == Clinical Features == | ||
=== Facial Abnormalities === | === Facial Abnormalities === | ||
Facial abnormalities in Goldenhar Syndrome can include underdeveloped facial muscles, a partially formed or absent external ear ([[Microtia|microtia]]), and underdevelopment of the mandible ([[Micrognathia|micrognathia]]). | Facial abnormalities in Goldenhar Syndrome can include underdeveloped facial muscles, a partially formed or absent external ear ([[Microtia|microtia]]), and underdevelopment of the mandible ([[Micrognathia|micrognathia]]). | ||
=== Ocular Abnormalities === | === Ocular Abnormalities === | ||
Ocular abnormalities may include [[Coloboma|coloboma]] (a defect in the eye structure), [[Microphthalmia|microphthalmia]] (small eyes), and [[Anophthalmia|anophthalmia]] (absence of one or both eyes). | Ocular abnormalities may include [[Coloboma|coloboma]] (a defect in the eye structure), [[Microphthalmia|microphthalmia]] (small eyes), and [[Anophthalmia|anophthalmia]] (absence of one or both eyes). | ||
=== Vertebral Abnormalities === | === Vertebral Abnormalities === | ||
Vertebral abnormalities such as [[Scoliosis|scoliosis]] (curvature of the spine) and hemivertebrae (abnormally shaped vertebrae) are also common. | Vertebral abnormalities such as [[Scoliosis|scoliosis]] (curvature of the spine) and hemivertebrae (abnormally shaped vertebrae) are also common. | ||
== Diagnosis == | == Diagnosis == | ||
Diagnosis of Goldenhar Syndrome is typically made based on physical examination and may be confirmed with [[Medical Imaging|imaging studies]] such as X-rays or MRI. | Diagnosis of Goldenhar Syndrome is typically made based on physical examination and may be confirmed with [[Medical Imaging|imaging studies]] such as X-rays or MRI. | ||
== Treatment == | == Treatment == | ||
[[File:Goldenhar syndrome limbal dermoid (2).png|left|thumb|Goldenhar syndrome]] | |||
[[File:Goldenhar syndrome limbal dermoid (2).png|thumb|Goldenhar syndrome]] | |||
Treatment for Goldenhar Syndrome is multidisciplinary and may involve [[Surgery|surgical intervention]], [[Speech Therapy|speech therapy]], [[Orthodontics|orthodontic treatment]], and other supportive therapies depending on the individual's needs. | Treatment for Goldenhar Syndrome is multidisciplinary and may involve [[Surgery|surgical intervention]], [[Speech Therapy|speech therapy]], [[Orthodontics|orthodontic treatment]], and other supportive therapies depending on the individual's needs. | ||
== Prognosis == | == Prognosis == | ||
The prognosis for individuals with Goldenhar Syndrome varies depending on the severity of the condition and associated complications. Many individuals lead full, productive lives with appropriate medical and surgical management. | The prognosis for individuals with Goldenhar Syndrome varies depending on the severity of the condition and associated complications. Many individuals lead full, productive lives with appropriate medical and surgical management. | ||
== Resources and Support == | == Resources and Support == | ||
Support for individuals and families affected by Goldenhar Syndrome is available through organizations like the [[Goldenhar Syndrome Association]] and other support groups. | Support for individuals and families affected by Goldenhar Syndrome is available through organizations like the [[Goldenhar Syndrome Association]] and other support groups. | ||
[[Category:Congenital Disorders]] | [[Category:Congenital Disorders]] | ||
[[Category:Craniofacial Abnormalities]] | [[Category:Craniofacial Abnormalities]] | ||
{{stub}} | {{stub}} | ||
Latest revision as of 02:14, 7 April 2025
Editor-In-Chief: Prab R Tumpati, MD
Obesity, Sleep & Internal medicine
Founder, WikiMD Wellnesspedia &
W8MD medical weight loss NYC and sleep center NYC
| Goldenhar syndrome | |
|---|---|
| |
| Synonyms | Oculo-auriculo-vertebral spectrum (OAVS), hemifacial microsomia |
| Pronounce | |
| Specialty | N/A |
| Symptoms | Facial asymmetry, ear abnormalities, eye abnormalities, spinal deformities |
| Complications | Hearing loss, vision problems, breathing difficulties |
| Onset | Congenital |
| Duration | Lifelong |
| Types | N/A |
| Causes | Unknown, possibly genetic and environmental factors |
| Risks | |
| Diagnosis | Clinical examination, imaging studies |
| Differential diagnosis | Treacher Collins syndrome, Nager syndrome |
| Prevention | |
| Treatment | Surgical intervention, hearing aids, speech therapy |
| Medication | |
| Prognosis | Variable, depends on severity |
| Frequency | 1 in 3,500 to 1 in 5,600 live births |
| Deaths | |
Goldenhar Syndrome[edit]
Goldenhar Syndrome, also known as Oculo-Auriculo-Vertebral (OAV) syndrome, is a rare congenital condition characterized by the incomplete development or absence of facial structures, primarily affecting one side of the face.
Introduction[edit]
Goldenhar Syndrome is a birth defect that leads to abnormalities in the structure of the face. Affected individuals may have partially formed or absent ears, nose, lip, mandible (lower jaw), and/or soft palate. The condition can vary in severity and can be associated with other health issues.
Etiology[edit]
The exact cause of Goldenhar Syndrome is not fully understood, but it is believed to be a combination of genetic and environmental factors. There is no known single cause, and the condition occurs sporadically.
Clinical Features[edit]
Facial Abnormalities[edit]
Facial abnormalities in Goldenhar Syndrome can include underdeveloped facial muscles, a partially formed or absent external ear (microtia), and underdevelopment of the mandible (micrognathia).
Ocular Abnormalities[edit]
Ocular abnormalities may include coloboma (a defect in the eye structure), microphthalmia (small eyes), and anophthalmia (absence of one or both eyes).
Vertebral Abnormalities[edit]
Vertebral abnormalities such as scoliosis (curvature of the spine) and hemivertebrae (abnormally shaped vertebrae) are also common.
Diagnosis[edit]
Diagnosis of Goldenhar Syndrome is typically made based on physical examination and may be confirmed with imaging studies such as X-rays or MRI.
Treatment[edit]
.png)
Treatment for Goldenhar Syndrome is multidisciplinary and may involve surgical intervention, speech therapy, orthodontic treatment, and other supportive therapies depending on the individual's needs.
Prognosis[edit]
The prognosis for individuals with Goldenhar Syndrome varies depending on the severity of the condition and associated complications. Many individuals lead full, productive lives with appropriate medical and surgical management.
Resources and Support[edit]
Support for individuals and families affected by Goldenhar Syndrome is available through organizations like the Goldenhar Syndrome Association and other support groups.
