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5 days ago · Overview. Neurofibromatosis type 1 (NF1) is a genetic condition that causes changes in skin pigment and tumors on nerve tissue. Skin changes include flat, light brown spots and freckles in the armpits and groin. Tumors can grow anywhere in the nervous system, including the brain, spinal cord and nerves. NF1 is rare.
Dec 8, 2022 · Stiff-person syndrome is an autoimmune disorder of the nervous system, often resulting in progressive, severe muscle stiffness and spasms of the lower extremities and back. It also can affect other body regions.
May 25, 2023 · Primary features of Waardenburg syndrome include distinctive facial abnormalities; unusually diminished pigmentation (i.e., partial albinism) of the hair, skin, or irides of both eyes; and deafness present from birth.
- Waardenburg syndrome is a rare congenital disease involving a group of genetic conditions, including distinctive facial features, discoloration of...
- Waardenburg syndrome is usually caused by genetic mutations that are either inherited or occur spontaneously for unclear reasons. According to seve...
- Waardenburg syndrome is usually diagnosed at birth or early childhood based upon a complete patient and family history, a thorough clinical assessm...
- The treatment of WS aims initially to resolve the symptoms that are apparent in each individual. Such treatment may require the coordinated medical...
- Waardenburg syndrome includes various genetic conditions, such as distinctive facial features; unusually diminished pigmentation of the hair, skin,...
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Goldenhar syndrome is a rare disorder that’s present at birth. It’s a craniofacial condition, meaning it affects the development of your face and skull. Most babies with the condition have hemifacial microsomia and underdeveloped bones and muscles in one side of their face. With treatment, most children with Goldenhar syndrome live a relatively normal lifespan.
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OverviewSymptoms and CausesDiagnosis and TestsManagement and TreatmentPreventionOutlook / PrognosisLiving WithAdditional Common Questions
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What causes Goldenhar syndrome?
Experts don’t know exactly what causes Goldenhar syndrome. It occurs because of a change in a chromosome, but researchers don’t always know what causes that change. In up to 2% of cases, babies may inherit Goldenhar syndrome from one or both parents. Some research shows that when you’re pregnant, certain conditions or medications may increase the risk that your baby will have Goldenhar syndrome. These include: Gestational diabetes. Retinoic acid, such as isotretinoin (Accutane®), a common acne medication. Advertisement
What are the symptoms of Goldenhar syndrome?
One of the most common signs of Goldenhar syndrome is hemifacial microsomia. Hemifacial microsomia often causes an underdeveloped jaw, cheek and eye on one side of your face. Some people have one unusually small ear (microtia). Others may be missing one ear (anotia) or have hearing loss. Up to 1 in 3 people with Goldenhar syndrome have underdevelopment on both sides of the face. They may also have problems with their kidneys, heart, lungs or spinal bones (vertebrae). Up to 15% of people with Goldenhar syndrome have a type of intellectual disability. Other Goldenhar syndrome symptoms include: Cleft lip or cleft palate. Congenital heart defects. Dermoid cysts on your eye. Hearing loss. Hydrocephalus. Obstructive sleep apnea. Missing eyelid or other tissue (coloboma) and vision loss. Scoliosis, a curved spine. Speech difficulties. Strabismus (crossed eyes).
How is Goldenhar syndrome diagnosed?
Healthcare providers may diagnose babies with Goldenhar syndrome based on physical symptoms. They may use additional tests such as: CT scans, which may show changes in ear structures that contribute to hearing loss. Echocardiogram (echo test) or electrocardiogram (EKG) — tests to evaluate heart function. Eye exams, which look at the inside of your eye for irregularities. Ultrasound and X-ray, which may show changes in your skull, spine, lungs or kidneys. Genetic testing, which may rule out other genetic conditions that cause similar symptoms. Sleep studies, which check for obstructive sleep apnea. Advertisement
Can you diagnose Goldenhar syndrome before birth?
Rarely, healthcare providers may detect signs of Goldenhar syndrome in a fetus. They may notice jaw, ear or mouth changes on a prenatal ultrasound.
How is Goldenhar syndrome treated?
Goldenhar syndrome treatment varies based on symptoms. If symptoms are mild, children may not need treatment. Treatment may include: Feeding assistance with special bottles or nasogastric (NG) feedings. Eyeglassesor surgery to improve vision. Hearing aids or bone-anchored auditory implants to help you hear. Speech therapy to increase language and communication skills. Surgery to correct a heart defect, cleft lip or palate, obstructive sleep apnea, microtia or spinal defect.
Can Goldenhar syndrome facial irregularities be corrected?
Yes. You or your child may have cosmetic surgery to make facial features more symmetrical. Many babies with Goldenhar syndrome have surgery to change the appearance of their jaw, cheekbones, ears or forehead.
How can I prevent Goldenhar syndrome?
Because experts don’t know what causes Goldenhar syndrome, there’s no way to prevent it. During pregnancy, follow all of your healthcare provider’s instructions. Avoid medicines with retinoic acid, and eat a healthy diet. If you have a family history of Goldenhar syndrome, genetic testing and counseling can help you understand the chances of having a child with the condition.
Does Goldenhar syndrome affect life expectancy?
While Goldenhar syndrome outlook can vary, many people have positive outcomes. With treatment, children with the condition usually live a typical lifespan.
What else should I ask my doctor?
You may want to ask your healthcare provider: What are the signs of Goldenhar syndrome? What tests does my child need to diagnose Goldenhar syndrome? What are the treatment options? Where can I learn more about Goldenhar syndrome? What support resources are available for people with Goldenhar syndrome?
Is Goldenhar syndrome a disability?
Yes. Hearing and vision problems can be considered a disability. Additionally, intellectual disability may increase a person’s need for support when living with Goldenhar syndrome.
What conditions have similar symptoms as Goldenhar syndrome?
Several conditions cause symptoms similar to Goldenhar syndrome, including: Branchiootorenal (BOR) syndrome. CHARGE association. Townes-Brocks syndrome. Treacher Collins syndrome. VACTERL association. A note from Cleveland Clinic Goldenhar syndrome is a rare congenital condition, meaning you’re born with it. It causes changes in the shape of your baby’s face, head and sometimes organs. Healthcare providers may surgically treat facial or spinal malformations during infancy. Children with mild symptoms may not need treatment, and most people with Goldenhar syndrome live a fulfilling life. Medically Reviewed Last reviewed by a Cleveland Clinic medical professional on 04/19/2022. Learn more about our editorial process.
Aug 19, 2019 · In this study we aimed to clarify the mutation spectrum of syndromic hearing loss patients in Japan by using next-generation sequencing analysis with a multiple syndromic targeted resequencing...
- Michie Ideura, Shin ya Nishio, Hideaki Moteki, Yutaka Takumi, Maiko Miyagawa, Teruyuki Sato, Yumiko ...
- 2019
Oct 9, 2023 · Overview. What is Klinefelter syndrome? Klinefelter syndrome is a genetic disorder in which people assigned male at birth (AMAB) have an additional X chromosome in their genetic code. Most people AMAB have 46 chromosomes (packages of DNA). This includes one copy of an X chromosome and one copy of a Y chromosome (46, XY).
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Nov 20, 2018 · Sick sinus syndrome — also known as sinus node disease or sinus node dysfunction — is a group of heart rhythm problems (arrhythmias) in which the heart's natural pacemaker (sinus node) doesn't work properly.
