Stickler Syndrome is a rare type of genetic condition that is characterized by distinctive facial appearance, hearing loss, eye abnormalities, and joint problems. Medically termed as, hereditary progressive arthro-ophthalmopathy, this disorder is usually diagnosed during infancy or childhood. Children who are diagnosed with this rare disorder often have characteristic facial features like prominent eyes, a small nose with a scooped-out or flattened facial appearance, under developed bones in the middle of the face (like that of the cheek bones and the bridge of the nose) and a receding chin.
Stickler syndrome is often accompanied with a particular set of physical features referred to as Pierre Robin sequence. The characteristic features include cleft palate (an opening in the roof of the mouth), glossoptosis (a tongue that is placed further back inside the mouth than normal), and micrognathia (a small lower jaw). Children are often diagnosed with a combination of these features that can lead to feeding problems and even difficulty in breathing.
Causes
Stickler syndrome usually occurs due to mutation or abnormal changes in the genes that are involved with the formation and synthesis of collagen (which are complex molecules that give structure and strength to the connective tissues that support the body's joints and organs). This type of collagen that is mostly affected due to this syndrome is the one that is used to produce joint cartilage and the jellylike material (vitreous) found within the eyes. The genetic changes chiefly impair the production, processing, or assembly of collagen molecules thereby inhibiting the development of connective tissues in different parts of the body causing the variety of features of the syndrome.
Also Read: Noonan Syndrome: Causes, Symptoms And Treatment
Risk Factors
The risk of developing Stickler syndrome increases if either or both the parents are diagnosed with this disorder. Although, it is mostly inherited, however it can also occur due to spontaneous genetic mutation.
Symptoms
The chief symptoms of Stickler syndrome usually vary from person to person, even within the same family. These include:
- Cleft palate
- Flattened or scooped-out face with a small nose
- Micrognathia (abnormally small and recessed lower jaw)
- Ear and hearing problems including total hearing loss
- Eye problems including severe nearsightedness, detached retina, glaucoma or cataract
- Bone and joint problems including stiff or overly flexible joints, scoliosis (spine curvature), osteoarthritis
Complications
If the condition is left untreated for a long time, it can often lead to one or more of the following complications. These include:
- Blindness
- Difficulty in breathing or eating
- Heart problems
- Deafness
- Ear infections
- Hearing loss
- Dental problems
Diagnosis And Treatment
On noticing the signs and symptoms in your child, do consult a doctor at the earliest to get diagnosed and treated accordingly. The doctor usually does a thorough physical checkup to assess the abnormalities in the face, ears, eyes and joints and acknowledge the child’s medical history and the parent’s genetic history and conduct some diagnostics. These include:
- Imaging techniques like an X-ray to check any abnormalities in the joints and spine
- Vision and hearing test to detect problems with the eyes and ears
- Genetic testing to identify the faulty gene
Treatment
Although there is no absolute cure for this genetic disorder, the doctor often employs different types of therapies to manage symptoms and correct features associated with the disorder. These include:
- Corrective contact lenses or glasses to improve vision
- Hearing aids to improve hearing
- Medications to ease joint pain
- Physical therapy to improve mobility and strengthen joints
- Speech therapy to help the individual produce sound
- Special education to improve learning experience
If these therapies don’t work or if the condition is more severe, the doctor may often suggest or conduct surgical procedures including:
- Jaw surgery
- Cleft palate repair
- Tracheostomy
- Ear tubes
- Eye surgery
- Joint replacement
- Spinal bracing or fusion surgeries
