What are the symptoms of stickler syndrome?

Also known as hereditary progressive arthro-ophthalmopathy, Stickler syndrome is usually diagnosed during infancy or childhood. Children who have Stickler syndrome often have distinctive facial features — prominent eyes, a small nose with a scooped-out facial appearance and a receding chin.

mayoclinic.org - Stickler syndrome - Symptoms and causes - Mayo Clinic

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Overview

Stickler syndrome is a genetic disorder that can cause serious vision, hearing and joint problems. Also known as hereditary progressive arthro-ophthalmopathy, Stickler syndrome is usually diagnosed during infancy or childhood. Children who have Stickler syndrome often have distinctive facial features — prominent eyes, a small nose with a scooped-out facial appearance and a receding chin. They are often born with an opening in the roof of the mouth (cleft palate). While there is no cure for Stickler syndrome, treatments can help control symptoms and prevent complications. In some cases, surgery may be needed to correct some of the physical abnormalities associated with Stickler syndrome.

Symptoms

The signs and symptoms of Stickler syndrome — and the severity of those signs and symptoms — can vary widely from person to person, even within the same family. Eye problems. In addition to having severe nearsightedness, children who have Stickler syndrome often experience cataracts, glaucoma and retinal detachments. In addition to having severe nearsightedness, children who have Stickler syndrome often experience cataracts, glaucoma and retinal detachments. Hearing difficulties. The extent of hearing loss varies among people who have Stickler syndrome. It usually affects the ability to hear high frequencies. The extent of hearing loss varies among people who have Stickler syndrome. It usually affects the ability to hear high frequencies. Bone and joint abnormalities. Children who have Stickler syndrome often have overly flexible joints and are more likely to develop abnormal curvatures of the spine, such as scoliosis. Osteoarthritis can begin in adolescence.

When to see a doctor

Regular follow-up visits, as well as yearly visits to doctors specializing in eye disorders, are crucial to monitor any progression of symptoms. Early treatment can help prevent life-altering complications. Hearing should be checked every six months in children through age 5 and then yearly thereafter. There is a problem with information submitted for this request. Review/update the information highlighted below and resubmit the form. From Mayo Clinic to your inbox Sign up for free, and stay up to date on research advancements, health tips and current health topics, like COVID-19, plus expertise on managing health. Email ErrorEmail field is required ErrorInclude a valid email address Learn more about Mayo Clinic’s use of data. To provide you with the most relevant and helpful information, and understand which information is beneficial, we may combine your email and website usage information with other information we have about you. If you are a Mayo Clinic patient, this could include protected health information. If we combine this information with your protected health information, we will treat all of that information as protected health information and will only use or disclose that information as set forth in our notice of privacy practices. You may opt-out of email communications at any time by clicking on the unsubscribe link in the e-mail. Subscribe! Thank you for subscribing! You'll soon start receiving the latest Mayo Clinic health information you requested in your inbox. Sorry something went wrong with your subscription Please, try again in a couple of minutes Retry

Causes

Stickler syndrome is caused by mutations in certain genes involved in the formation of collagen — one of the building blocks of many types of connective tissues. The type of collagen most commonly affected is that used to produce joint cartilage and the jellylike material (vitreous) found within the eyes.

Risk factors

Your child is more likely to be born with Stickler syndrome if either you or your partner has the disorder.

Complications

Potential complications of Stickler syndrome include:

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What is Lennox Gastaut?

Definition. Lennox-Gastaut syndrome is a severe form of epilepsy. Seizures begin in early childhood, usually before the age of 4 years. Children, adolescents, and adults with Lennox-Gastaut syndrome have multiple types of seizures that vary among individuals.

ninds.nih.gov - Lennox-Gastaut Syndrome | National Institute of Neurological Disorders ...

What research is being done?

The NINDS conducts and supports a broad program of basic and clinical research on epilepsy, including Lennox-Gastaut syndrome. These studies are aimed at finding the causes of these disorders, improving the diagnosis, and developing new medications and other therapies. NINDS-funded researchers are looking at drug combinations that would help boost the effectiveness of medication therapy, and studies aimed at a better understanding of the genetic causes of Lennox-Gastaut syndrome. Other research is focused on better animal models that more closely reflect the mechanisms that cause epilepsy in humans so they can be used to more effectively screen potential treatments for the epilepsies.

Information from the National Library of Medicine’s MedlinePlus

Genetics Home Reference: Lennox-Gastaut syndrome

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