Stickler syndrome is a group of hereditary conditions characterized by a distinctive facial appearance, eye abnormalities, hearing loss, and joint problems. These signs and symptoms vary widely among affected individuals. A characteristic feature of Stickler syndrome is a somewhat flattened facial appearance.
Stickler syndrome is a connective tissue disorder that can include ocular findings of myopia, cataract, and retinal detachment; hearing loss that is both conductive and sensorineural; midfacial underdevelopment and cleft palate (either alone or as part of the Robin sequence); and mild spondyloepiphyseal dysplasia and/ ...
What is the long-term outlook for my child? There's no cure for Stickler syndrome. It doesn't affect your child's life expectancy, but it is a progressive condition, which means that your child's symptoms may get worse with time.
Thirty percent of people with Stickler syndrome develop arthritis between 30 and 40 years of age. Short stature (25% of people with Stickler syndrome). Curvature of the spine inward (scoliosis) or outward (kyphosis). This may cause back pain.
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).
Stickler syndrome affects males as well as females. Prevalence rates have been estimated at 1-3 per 10,000 births and at 1 per 7,500 births. Most investigators believe that the disorder is highly under-diagnosed, making it difficult to determine the true prevalence of Stickler syndrome in the general population.
A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by craniofacial dysmorphism (midface hypoplasia, depressed nasal bridge, small nose with upturned tip, cleft palate, Pierre Robin sequence), bilateral, pronounced sensorineural hearing loss, and skeletal/joint anomalies (including ...
Diagnosis of Stickler syndrome or a related disorder may be suspected based on clinical features, but confirmation of the condition requires genetic testing.
Many people with Stickler syndrome have severe nearsightedness (high myopia ), which means they have trouble seeing things that are far away. In some cases, the clear gel that fills the eyeball (the vitreous ) has an abnormal appearance, which is noticeable during an eye examination.
Type 1 – COL2A1 is responsible for Stickler syndrome in about 75% of people diagnosed with the condition. Most will have 'full' Stickler syndrome affecting the sight, joints, hearing and any mid-line clefting. Findings show those with this anomaly have an increased incidence of cleft abnormalities.
Stickler syndrome type VI (STL6) is characterized by early-onset progressive hearing loss and progressive myopia, with variable manifestation of facial dysmorphism and skeletal anomalies (Nixon et al., 2019; Rad et al., 2022).
Stickler syndrome affects an estimated 1 in 7,500 to 9,000 newborns. Type I is the most common form of the condition.
Stickler syndrome was first described in the medical literature in 1965 by Gunnar Stickler et al., who called the disorder hereditary progressive arthro-ophthalmopathy. Stickler syndrome refers to a group of disorders of connective tissue.
Stickler syndrome was originally described by pediatrician Gunnar B. Stickler in 1965, as hereditary progressive arthro-ophthalmopathy. Stickler syndrome is a systemic connective tissue disorder characterized by defective collagen production.
Stickler syndrome received its name from Dr. G. B. Stickler, who first studied and documented the syndrome. The term “syndrome” is derived from the Greek work “syn” meaning “together with” and the Greek word “drome” meaning “to run”. A syndrome is a collection of specific symptoms, all with one cause.
A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by craniofacial dysmorphism (midface hypoplasia, depressed nasal bridge, small nose with upturned tip, cleft palate, Pierre Robin sequence), bilateral, pronounced sensorineural hearing loss, and skeletal/joint anomalies (including ...
Stickler syndrome type VI (STL6) is characterized by early-onset progressive hearing loss and progressive myopia, with variable manifestation of facial dysmorphism and skeletal anomalies (Nixon et al., 2019; Rad et al., 2022).
Description: Perfectionism and a need for order and organization taken too far. Characteristics: Punctual, methodical, perfectionist. Can be irritable, tense, opinionated, sarcastic.
Summaries for Stickler Syndrome, Type V
STL5 is characterized by high myopia, vitreoretinal degeneration, retinal detachment, mild to moderate sensorineural hearing loss, short stature in childhood, and absence of cleft palate and Pierre Robin sequence.