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Stickler Syndrome - Symptoms, Diagnosis, and Treatment

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Stickler syndrome is a hereditary condition affecting the connective tissue causing problems with vision, hearing, and joints. Read below to know more.

Written by

Dr. Sumithra. S

Medically reviewed by

Dr. Kaushal Bhavsar

Published At August 19, 2022
Reviewed AtDecember 4, 2023

Introduction

An infant's health is considered very important. Therefore, the child immediately after delivery will be subjected to many tests to assess the functioning of breathing, heart rate, and muscle reflexes. A child will be subjected to many infections and disorders during birth. One such disorder is a hereditary condition affecting the connective tissue system of the body and causing impairment of vision, and hearing, and problems with bones and joints. In addition, these children will also present with a cleft palate (an opening in the region of the roof of the mouth due to improper fusion of the tissues during the developmental stages while inside the womb). It is a common condition and affects both males and females equally. However, it is not a life-threatening condition most of the time.

What Are the Symptoms of Stickler Syndrome?

A child affected by Stickler syndrome rarely presents with all the following symptoms. The child will present with facial deformities as well as a few impairments.

Facial Deformities -

  • Cleft Palate - It is a condition in which the roof of the palate will have an opening. This is caused as a result of developmental abnormalities or due to the medication taken by a mother during pregnancy. It is not a fatal condition, but it affects speech and causes stuttering.

  • Mandibular Hypoplasia - Also known as micrognathia, is a condition that presents with a small lower jaw. It is a genetic condition caused due to the mutation of certain genes or fetal alcohol syndrome (caused due to the exposure of a child to alcohol during the pregnancy phase).

Flat cheekbones and flat noses are also seen in a few cases.

Other Signs -

Stickler syndrome causes eye, ear, bone, and joint problems.

  • Nearsightedness - The child will be able to focus on nearby objects, and the things placed farther away will appear blurred.

  • Cataracts - The eye's normal transparent and clear lens will become cloudy, producing cloudy vision.

  • Glaucoma - It is a condition in which the optic nerve (the nerve that provides connection to the eye with the brain) is damaged due to high pressure. It shows signs of eye redness, loss of vision, and pain. It is one of the biggest causes of blindness in older adults.

  • Retinal Detachments - Vitreous humor, a gel-like substance, is present between the retina and lens. As a person ages, the gel will become fluid, and the retinal layer (innermost layer of the eye) will try to pull away, causing a tear that will progress to result in a retinal detachment. Fluid accumulation behind the retina, cancer, coat disease, and uncontrolled diabetes are all considered the cause of retinal detachment.

  • Scoliosis - It is a condition of abnormal spine curvature which will worsen over time.

  • Osteoarthritis - The bone's cartilage (essential to prevent the friction of bones) will worsen.

Additionally, people affected by Stickler syndrome can have impairment in hearing high-frequency sounds and may have flexible joints.

What Are the Possible Complications of Stickler Syndrome?

  • Due to the retinal detachment, vision will be adversely affected. Immediate care is needed in this case.

  • Stickler syndrome can cause heart conditions, most commonly heart valve defects.

  • In cases involving cleft palate, breathing and eating difficulties will be felt.

  • Children with Stickler syndrome are more likely to develop ear infections than normal ones.

  • Impairment of hearing can worsen over time.

  • Children having smaller jaws have problems with dentition. Due to the smaller jaw size, enough space will not be present to house the entire dentition, and thus dental treatments will be required.

How to Diagnose Stickler Syndrome?

Most of the time, the symptoms will be mild and do not provide a need to be diagnosed. Only when the symptoms start showing up will the doctor be able to diagnose the condition. A general physical exam is enough for the doctor to diagnose the condition, but the patient will be put through a series of tests to assess the complexity of the issue.

  • Imaging Tests - A patient will be put through imaging tests to assess the severity of bone and joint abnormalities.

  • Eye Examination - A few dilating drops will be placed on the pupil to widen it enough for vitreous examination using a special lighted instrument. An eye examination is also done to diagnose if cataracts and glaucoma are present.

  • Hearing Tests - An audiometer will assess the patient's sensitivity to different frequencies.

  • Genetic Testing - Genetic testing will be done to determine the gene at fault.

What Are the Possible Differential Diagnosis of Stickler Syndrome?

The diagnostic features of Stickler syndrome can be mistaken for a few other conditions like,

  • Knobloch Syndrome - It is an inherited gene disorder presenting skull and vision defects.

  • Wagner Syndrome - It is also a hereditary disorder causing vision loss.

  • Kniest Dysplasia - It is a skeletal disorder causing deformed arms and legs and abnormal stature.

  • Multiple Epiphyseal Dysplasia - It affects the long bones.

How to Manage Stickler Syndrome?

Stickler syndrome does not have a cure, and only the signs and symptoms can be treated.

Surgical Management:

  • Surgery to correct the undersized lower jaw can be done. A device will be implanted in the jaw to lengthen it in due course.

  • A plastic tube will be placed in the eardrum surgically to prevent hearing loss and ear infections.

  • Children presenting with cleft palates will undergo surgery to close the opening.

  • Surgeries for cataracts, glaucoma, and retinal detachment repair will be done.

  • In the case of mild scoliosis, a brace can be used to correct the deformity.

  • In the case of early arthritis, the child will have to undergo joint replacement therapies.

Therapy:

  • Speech therapy can be started to overcome speech disorders in the case of cleft palate.

  • In case of joint pain and stiffness, patients can be started on physiotherapy.

  • In the case of a child with hearing and vision issues, it is recommended to opt for special education to ease the process for the child.

Conclusion:

Stickler syndrome cannot be prevented, but the signs and symptoms can be managed well. The life term of a person affected by Stickler syndrome does not change, and with treatment for the symptoms, the patient can live a quality life. Also, early diagnosis is mandatory for preventing complications. Therefore, do not delay the consultation with the specialist doctor as soon as the signs become evident.

Frequently Asked Questions

1.

What Is the Life Expectancy of Someone With Stickler Syndrome?

Stickler syndrome is a genetic condition characterized by problems with vision, hearing, and joints. There is no treatment found to cure Stickler syndrome for now. But that does not affect life expectancy. The symptoms can be managed appropriately, but the condition will prevail.

2.

Does Stickler Syndrome Affect Intelligence?

Stickler syndrome is a hereditary condition that affects collagen production, mainly resulting in vision, hearing, and facial issues. The intelligence of the children affected by Stickler syndrome is not found to be affected until now.

3.

Does Stickler Syndrome Affect Fertility?

Stickler syndrome is a hereditary collagen production disorder. It tends to affect the facial structures of the child and hearing and vision capabilities. Just like other collagen disorders affecting fertility, Stickler syndrome to has the ability to affect fertility. Till now, only very few such cases have been reported.

4.

Does Stickler Syndrome Get Worse With Age?

Stickler syndrome causes various conditions like retinal detachment, myopia, etc. This condition is found to worsen with age. But the life expectancy is not affected. All the conditions caused by the collagen disorder syndrome can be managed.

5.

What Percentage of People Have Stickler Syndrome?

Stickler syndrome is a rare hereditary condition. It often goes unnoticed due to a lack of awareness or mild signs. In the country of the United States, at least one in 7500 people get affected.

6.

Is Stickler Syndrome More Common in Males or Females?

Stickler syndrome generally affects both the male and female populations equally. There is no sex predominance, and it does not affect life expectancy greatly. Flat cheekbones, nose, and face in general, cataracts, glaucoma, retinal detachment, a cleft palate, osteoarthritis, etc. are a few of the conditions associated with Stickler syndrome.

7.

Are There Prenatal Tests for Stickler Syndrome?

Mostly, Stickler syndrome is diagnosed post-birth. But Stickler syndrome can be diagnosed prenatally too. In the first trimester, with the help of markers, the syndrome can be diagnosed. In the second trimester, with the help of an ultrasound, a cleft palate can be diagnosed. But there are chances it might go unnoticed.

8.

How Does Stickler Syndrome Affect the Eyes?

Stickler syndrome affects different people at different levels. For a few, it might be mild, and for others, it may be severe. Stickler syndrome causes various eye conditions like glaucoma, nearsightedness, retinal detachment, cataracts, etc.

9.

Is Facial Deformity a Disability?

People affected by facial deformities are often made fun of and shown discrimination throughout their life. Thus, many governing bodies have made facial deformity a disability to provide welfare for the ones affected by facial deformities.

10.

What Causes Mandibular Hypoplasia?

It is a craniofacial difference affecting the mandibular bone. The causative factor of mandibular hypoplasia is not known yet. But it is believed to have been caused due to abnormalities of intrinsic growth, connective tissue disorder, or malformations in positioning.

11.

Can Nearsightedness Be Cured?

Nearsightedness is also known as myopia. It is a condition characterized by the inability of the affected person to view things placed farther away. Only the objects placed nearby can be viewed clearly. There is no cure or way to reverse myopia as of now. The condition can only be managed with glasses, lifestyle changes to adapt to nearsightedness, and contact lenses.
Dr. Kaushal Bhavsar
Dr. Kaushal Bhavsar

Pulmonology (Asthma Doctors)

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