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Goldenhar Syndrome

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Rosio Madrigal

on 26 October 2016

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Transcript of Goldenhar Syndrome

Also Known as Oculo-Auriculo-Vertebral (OAV) syndrome.
A rare congenital defect characterized by incomplete or under development of facial features and internal organs.
Not many women know their child has Goldenhar Syndrome until after birth. Some are not diagnosed until after 1 year old.
What is Goldenhar syndrome?
Goldenhar Syndrome
The visual defects or first clues are:
-Underdeveloped facial muscles and cheek bones
resulting in a curvature of the face
-Small lower jaw
-Cleft lip or palate
-Tilted or slanted eyes
-Vision Problems
-Small, malformed, or missing ears/ear canals
This could result in Hearing loss
Conductive hearing loss
Sensorineural hearing loss
Mixed hearing loss
Complete hearing loss

How do you know if a child has Goldenhar Syndrome
-The non-visual defects:
Mental retardation
Spinal problems
Scoliosis
Underdeveloped, missing or fused vertebrae and neck bones
Malformed or missing ribs
Underdeveloped organs
Heart
Kidney
Lungs

How do you know if a child has Goldenhar continued...
-There are many theories about how a child develops Goldenhar, including pesticides, viruses, and gene disruption. The study of Goldenhar is still ongoing and doctors have not given an exact reason for the syndrome.
-Some children have distinct characteristics of Goldenhar and others are not diagnosed until learning or speech become a problem, around 1 year to 2 years old.

Cause
-Children with Goldenhar always require eye exams and hearing tests.
-If the hearing test fails, other tests are run to determine what type of hearing aid would work best for the child.
Completely in the canal
In the canal
In the ear
Behind the ear
Cochlear implant
Hearing loss and vision problems
As these children grow, they learn to cope with their disability in many ways whether it be with help through parents, teachers, therapists, or in a friend.
This dog knew Zach had a disability of some sort and helped him feel comfortable the best she could, 1 ½ years of training and she became his service dog.

Coping with Goldenhar Syndrome
-The outlook for children with Goldenhar syndrome varies, but is generally very positive. Most children can expect to live a healthy life once treatments have been administered. The majority can expect to have a normal lifespan and a normal level of intelligence.
-A child may have their own issues with the disorder such as:
*Knowing they are different or look different
*Figuring out how to do things on their own
*Knowing about surgery and what will happen to them
*Making friends at school or just being in a school environment

How does this affect the child with Goldenhar syndrome?
-Parents always feel a great deal of pain and responsibility for their child's condition and this can cause depression.
-Life schedule revolves around the appointments and care of the child.
-The child can have many doctor visits in his/her growing years.
-Money can be in issue if the parents do not have health insurance and the child is not covered under any type of health plan.

How does this affect the parents/family of the child with Goldenhar?
Related diseases

-
Acrocephalosyndactyly (Apert syndrome):
Is a genetic disorder that causes abnormal development of the skull. Babies are born with distorted shape of the head and face. This syndrome is caused by a rare mutation on a single gene.
-
Crouzon syndrome:
is a genetic disorder characterized by the premature fusion of certain skull bones (craniosynostosis). This early fusion prevents the skull from growing normally and affects the shape of the head and face.
-
Pfeiffer syndrome:
is a very rare genetic disorder characterized by the premature fusion of certain bones of the skull which affects the shape of the head and face. (similar to Apert syndrome)


Diagnosis
-If a child/newborn show characteristics of Goldenhar, Physicians will request additional tests that include:
X-rays of the face and spine to check for problems with facial bones, ears, and vertebrae
Diagnostic imaging, especially ultrasound and CT scans, to check the heart, lungs, and kidneys for congenital defects
Hearing and vision tests to find any deficiencies

Treatment
-After a diagnosis is confirmed a treatment for fixing features of goldenhar are started, which include:
Surgery of cleft lip or cleft palate
Surgery on eyelids, if missing or show issues
Surgery on ears
Inner ear or outer ear
Surgery repair for underdeveloped body parts
Uvula, high palate, hands, cheeks, organs

Pathophysiology
-Goldenhar syndrome is caused by a disruption of normal facial development.
-When the movement and development of these tissues is disrupted, the face may have abnormal openings, underdevelopment, and/or excess skin.





Statistics
-Unfortunately for the rare diseases, there is often not a calculated incidence or prevalence as there is no official method for tracking these conditions.
Estimated that the frequency of Goldenhar disease ranges between 1 mild case per 3,500 births and 1 severe case per 25,000 births severe.
A very rough estimate for the number of affected people in the United States ranges from 13,000-56,0000.
Estimates for the number of affected people worldwide ranges from 300,000-1,300,000.
The chances of having another child with Goldenhar is less than 1%. Your child has about a 3% chance of passing it on to his or her children.
Long term effects on the child or fetus
-Long term effects of this disease include:
Defects on the face
Internal organs
Ears
Hearing loss
Vision problems
Facts on Disease:
-Goldenhar syndrome is prevalent in 70% males.
-Moderate learning disabilities may occur in about 10% of cases.
-Young children with the disease can probably have 300 surgeries before they turn 9 years old.
-Some patients may need a feeding tube also called “G-tube”.
-Some babies may need to assistance of a Haberman bottle.
References
- http://www.chop.edu/conditions-diseases/goldenhar-syndrome
-http://syndromespedia.com/goldenhar-syndrome-pictures-symptoms-treatment.html#.WAbTqpMrJE4
-www.healthline.com/health/goldenhar-syndrome
-http://childrensnational.org/choose-childrens/conditions-and-treatments/genetic-disorders-and-birth-defects/goldenhar-syndrome
-www.goldenhar.org.uk/what-is-goldenhar/
Pathogenesis
-Vascular disruption(anomalies)
-Fetal hemorrhages as blood supply switches from stapedial artery to external carotid artery
-Environmental factors:
*Hypoxia due to high altitudes
*Maternal diabetes
*Teratogens-retinoic acid and thalidomide, and prevalent in offspring of veterans of the Gulf War


By: Mariah Brown, Sheila Jimenea, & Rosio Madrigal
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