Stickler syndrome

What it is, symptoms and effects

From: MedlinePlus Genetics, National Library of Medicine

Stickler syndrome is a group of hereditary conditions that are characterized by a distinctive facial appearance, eye abnormalities, hearing loss, and joint problems. These signs and symptoms vary widely among affected individuals, even among members of the same family.

A characteristic feature of Stickler syndrome is a flattened facial appearance that results from underdeveloped bones in the middle of the face. A particular group of physical features called Pierre Robin sequence is also common in people with Stickler syndrome. Pierre Robin sequence includes an opening in the roof of the mouth (a cleft palate), a tongue that is placed further back than normal (glossoptosis), and a small lower jaw (micrognathia). This combination of features can lead to feeding problems and difficulty breathing after birth.

Many individuals 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. Other eye problems are also common in people with Stickler syndrome, including increased pressure within the eye (glaucoma), clouding of the lens of the eyes (cataracts), and tearing of the light-sensitive tissue at the back of the eye (retinal detachment). These eye abnormalities can impair vision and may lead to blindness.

Hearing loss is also common in people with Stickler syndrome. In affected individuals, the degree of hearing loss can vary and may worsen over time. People with Stickler syndrome typically have sensorineural hearing loss (caused by changes in the inner ear) with or without conductive hearing loss (caused by changes in the middle ear).

Most people with Stickler syndrome have joint abnormalities. Arthritis often develops early in life and may cause joint pain or stiffness. People with severe joint disease may need surgery to replace damaged joints in their 20s or 30s. Affected individuals may also have abnormal curvature of the spine (scoliosis or kyphosis) that causes back pain.

Researchers have described several types of Stickler syndrome, which are distinguished by their genetic causes, features, and patterns of inheritance. In particular, the eye abnormalities and severity of hearing loss vary among the different types. Some types of Stickler syndrome are very rare and have been diagnosed in only a few individuals.

ORPHANET DEFINITION A rare group of genetic connective tissue disorders characterized by ophthalmic, auditory, orofacial and articular manifestations. The two main clinical forms are clinically distinguished by the vitreous phenotype; stickler type 1 by a vestigial vitreous gel in the immediate retrolental space, bordered by a distinct folded membrane, and Stickler type 2 by sparse and irregularly thickened bundles of fibers throughout the vitreous cavity.

Causes

From: MedlinePlus Genetics, National Library of Medicine

A characteristic feature of Stickler syndrome is a flattened facial appearance that results from underdeveloped bones in the middle of the face. People with Stickler syndrome typically have sensorineural hearing loss (caused by changes in the inner ear) with or without conductive hearing loss (caused by changes in the middle ear).

Inheritance

From: MedlinePlus Genetics, National Library of Medicine

Autosomal dominant+New variant; Autosomal recessive

Frequency in the source

From: MedlinePlus Genetics, National Library of Medicine

Prevalence at birth: 1-9 / 100 000; Europe; Value and class. Point prevalence: 1-9 / 100 000; Europe; Class only. Prevalence at birth: 1-9 / 1 000 000; France; Value and class. Point prevalence: 1-9 / 1 000 000; France; Class only.

Reported clinical features and what the terms mean

The following findings are associated with this condition in Orphanet. They are not a checklist for diagnosing yourself, and they do not all occur in every affected person. Some are examination, imaging or laboratory findings that cannot be recognised at home.

The frequency labels describe how often a finding was reported among people with the condition in the source. They do not give the chance that a person with that symptom has the condition. Definitions below reproduce HPO terminology; they explain the term, not the likely severity in an individual.

Abnormal form of the vertebral bodies · Very frequent (99-80%)

Abnormal form of vertebral body, which is the central cylindrical portion of the vertebra that together with other structures such as the vertebral arch, pedicles, laminae, spinous process, transverse processes, and articular facets makes up a vertebra.

Abnormal vitreous humor morphology · Very frequent (99-80%)

Any structural anomaly of the vitreous body.

Abnormality of epiphysis morphology · Very frequent (99-80%)

An anomaly of epiphysis, which is the expanded articular end of a long bone that developes from a secondary ossification center, and which during the period of growth is either entirely cartilaginous or is separated from the shaft by a cartilaginous disk.

Arthralgia · Very frequent (99-80%)

Joint pain.

Cataract · Very frequent (99-80%)

A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule.

Depressed nasal bridge · Very frequent (99-80%)

Posterior positioning of the nasal root in relation to the overall facial profile for age.

Epicanthus · Very frequent (99-80%)

A fold of skin starting above the medial aspect of the upper eyelid and arching downward to cover, pass in front of and lateral to the medial canthus.

Hypoplasia of the maxilla · Very frequent (99-80%)

Abnormally small dimension of the Maxilla. Usually creating a malocclusion or malalignment between the upper and lower teeth or resulting in a deficient amount of projection of the base of the nose and lower midface region.

Other findings in the same source

From: Orphanet

Additional reported features include Long philtrum (Very frequent (99-80%)); Malar flattening (Very frequent (99-80%)); Microretrognathia (Very frequent (99-80%)); Midface retrusion (Very frequent (99-80%)); Myopia (Very frequent (99-80%)); Retinal detachment (Very frequent (99-80%)); Short nose (Very frequent (99-80%)); Skeletal dysplasia (Very frequent (99-80%)); Telecanthus (Very frequent (99-80%)); Visual impairment (Very frequent (99-80%)). This is a selected summary, not a complete description of the condition.

When it may begin

From: MedlinePlus Genetics, National Library of Medicine

Antenatal; Childhood; Infancy; Neonatal

Inheritance in the source

From: MedlinePlus Genetics, National Library of Medicine

Autosomal dominant+New variant; Autosomal recessive

Frequency and the population described

From: MedlinePlus Genetics, National Library of Medicine

Prevalence at birth: 1-9 / 100 000; Europe; Value and class. Point prevalence: 1-9 / 100 000; Europe; Class only. Prevalence at birth: 1-9 / 1 000 000; France; Value and class. Point prevalence: 1-9 / 1 000 000; France; Class only.

Which doctor should you see?

The suggested department for discussing Stickler syndrome is Orthopaedics, with a orthopaedic specialist as the relevant type of clinician. General physician / Family Medicine; paediatrician for children. Referral depends on symptoms.

Additional services that may be relevant, depending on the findings, include: Clinical Genetics.

This is an editorial referral starting point. The appropriate clinic depends on the person’s age, symptoms, previous diagnosis and local services. The first clinician can decide whether another specialty or a team is needed; a department label does not confirm the diagnosis.

How to prepare for an assessment

Bring a short timeline of the main symptoms: when they first appeared, whether they are constant or episodic, what seems to change them, and how they affect daily activities. Include previous reports, discharge summaries, current medicines and supplements, allergies, and any relevant family history. A dated record is more useful than trying to match every feature in an online article.

Ask the clinician what is already established and what remains uncertain. If a test is suggested, ask what question it answers, what its limitations are and how the result would change the next step. The information here is not an instruction to arrange every possible test. In children, bring growth, developmental and school information if it is relevant to the concern.

• What explains the change in pain, movement or function?
• Which activities need adjustment while the diagnosis is being clarified?
• What are the roles of rehabilitation, observation and surgery in this situation?

Treatment discussions and follow-up

The material gathered for this draft does not provide a complete condition-specific treatment pathway for Stickler syndrome. That gap does not mean that treatment is unavailable. A clinician needs to establish the diagnosis and review current guidance before recommending medicines, procedures, rehabilitation or other support.

Before leaving the appointment, clarify the next review date, who will communicate results, and whom to contact if the situation changes. Discuss difficulties with sleep, work, school, mobility, eating or emotional wellbeing when these are relevant. Practical support may require coordination between the treating clinician and other services.

The collected references do not establish a complete prevention or long-term outlook section for this entry. Missing information should not be interpreted as proof that prevention is impossible or that a particular outcome is inevitable. Ask what is known for the exact subtype, stage and personal circumstances, and which uncertainties remain.

When to seek emergency help

Severe breathing difficulty, collapse, new stroke-like symptoms, a seizure that is prolonged or repeated without recovery, uncontrolled major bleeding, or an immediate risk of self-harm require emergency help. In India, call 112 or reach the nearest emergency department. This is a general, non-exhaustive warning list; it is not a condition-specific triage tool.