How is Stickler syndrome, type 5 inherited?

Stickler syndrome, type 5 follows an autosomal recessive inheritance pattern. This means a child must inherit a copy of the altered gene from both parents to develop the condition. Parents who each carry one copy typically do not show symptoms.

How is Stickler syndrome, type 5 diagnosed?

Information about diagnosis is currently limited for this condition.

Are there treatments for Stickler syndrome, type 5?

Information about treatment is currently limited for this condition.

What complications might arise from Stickler syndrome, type 5?

Information about complications from Stickler syndrome, type 5 is currently limited. However, since it affects connective tissues, there may be issues related to joints, vision, or hearing. It's important to monitor these areas with healthcare providers as they may require special attention.

How might Stickler syndrome, type 5 affect daily life?

Details on how Stickler syndrome, type 5 affects daily life are not fully known. However, since it involves changes in connective tissues, individuals may experience challenges with physical activities or may need regular check-ups for vision and hearing. Families should work closely with healthcare providers to manage any specific needs.

What is the life expectancy for someone with Stickler syndrome, type 5?

Currently, there is limited information about the life expectancy of individuals with Stickler syndrome, type 5. Since this condition is rare and not well-studied, it’s best to discuss any concerns with a healthcare provider who can offer personalized insights based on individual health factors.

Are there any specialists recommended for managing Stickler syndrome, type 5?

While specific recommendations for specialists in Stickler syndrome, type 5 are not detailed, it may be beneficial to consult with geneticists and specialists in connective tissue disorders. Eye doctors and audiologists may also be important for monitoring vision and hearing, which can be affected by this condition.

Kisho

Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy

Stickler syndrome, type 5 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

Stickler syndrome, type 5

MONDO:0013666

Also known as:COL9A2 autosomal recessive Stickler syndromeautosomal recessive Stickler syndrome caused by mutation in COL9A2STICKLER syndrome, type V

Overview

Any autosomal recessive Stickler syndrome in which the cause of the disease is a mutation in the COL9A2 gene.

GeneticsAutosomal recessive · COL9A2 (chr 1)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Retinal detachment, Short stature, Short chin, and Inner ear hearing loss (sensorineural hearing impairment) and others. 9 total HPO annotations.

Organ System	Phenotype Count	Example Features
Eyes	2	Retinal detachment, Cataract

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

COL9A2 encodes collagen type IX alpha 2 chain (689 aa). Structural component of hyaline cartilage and vitreous of the eye Highest expression in Pituitary (193.7 TPM) and Brain Spinal cord cervical c-1 (136.8 TPM).

Stickler syndrome, type 5 is associated with mutations in the COL9A2 gene on chromosome 1.

COL9A2 is classified as a druggable target (Druggable Genome category) with score 2.6.

GeneReviews

Diagnosis

Drawn from GeneReviews diagnostic guidelines, newborn screening panel status (RUSP), and ClinGen gene-disease validity classifications. Reflects current clinical evidence and consensus where available.

GeneReviews

Diagnostic Criteria

No consensus clinical diagnostic criteria for Stickler syndrome have been published.

Suggestive Findings

Stickler syndrome should be suspected in individuals with a combination of the following clinical and radiographic findings.

Clinical findings

Cleft palate (open cleft, submucous cleft, or bifid uvula)

Treatment

Compiled from FDA-approved drug records, orphan drug designations, and FDA Adverse Event Reporting System (FAERS) safety data. GeneReviews management guidance is included where available.

No approved treatments are currently available for Stickler syndrome, type 5. The disease remains an area of unmet medical need.

GeneReviews

Management Guidelines

No clinical practice guidelines for Stickler syndrome have been published. Evaluations Following Initial Diagnosis To establish the extent of disease and needs in an individual diagnosed with Stickler syndrome, the evaluations summarized (if not performed as part of the evaluation that led to the diagnosis) are recommended. Table 5. Stickler Syndrome: Recommended Evaluations Following Initial Diagnosis

Prognosis

Based on GeneReviews surveillance recommendations, HPO phenotype frequency and severity annotations, and published prevalence estimates from Orphanet and OMIM.

GeneReviews

Surveillance Guidelines

To monitor existing manifestations, the individual's response to supportive care, and the emergence of new manifestations, the evaluations summarized in are recommended.

Table 7.

Stickler Syndrome: Recommended Surveillance

System/Concern | Evaluation | Frequency

Eyes | Exam by vitreoretinal specialist | Annually

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for Stickler syndrome, type 5.

21 publications have been identified in PubMed for Stickler syndrome, type 5. Research spans Case Report / Case Series (38%), Diagnostic / Biomarker (14%), and Review / Meta-Analysis (14%).

Research Type	Count	% of Total
Patient case studies	8	38%

Data assembled from 6 of 12 sources · Last updated Sep 18, 2026, 11:35 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:614284

GARD

Genetic and Rare Diseases Info Center

GARD:18359

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

FAQ

Frequently Asked Questions

Common questions about Stickler syndrome, type 5

Stickler syndrome, type 5 is a rare genetic condition. It is an autosomal recessive form of Stickler syndrome caused by a mutation in the COL9A2 gene. This mutation leads to changes in collagen, a protein that plays a key role in the structure of connective tissues throughout the body. People with this condition fall under the broader range of Stickler syndromes, a group of disorders that can affect multiple parts of the body. Information about how the condition affects everyday life is limited, but understanding that the cause is linked to the COL9A2 gene helps guide current research and genetic studies.

Information about symptoms is currently limited for this condition.

This condition is caused by a mutation in the COL9A2 gene. The disorder is inherited in an autosomal recessive pattern, which means that two copies of the mutated gene must be present for the condition to occur. Associated genes include COL9A2.

← Back to All Diseases

GeneReviews

Clinical Guidance

Stickler syndrome is characterized by typical craniofacial features, ocular manifestations, hearing impairment, and osteoarticular problems. To date, more than 1,000 individuals have been identified with Stickler syndrome due to a pathogenic variant(s) in one of the genes listed in . The following description of the phenotypic features associated with this condition is based on these reports. Table 2. Stickler Syndrome: Frequency of Select Features by Related Gene Feature | % of Persons w/Feature1

COL2A1-SS	COL11A1-SS	COL11A2-SS	COL9A1-, COL9A2-, COL9A3-SS
Cleft palate	30%-60%	60%	35%
Myopia	80%-90%	80%-85%	--
Retinal detachment	40%-70%	40%	--
Hearing impairment	20%-50%(SNHL ±conductive HL)	75%-80%	60%
Skeletal manifestations2	35%-40%	25%	50%

Source: GeneReviews — "Stickler Syndrome"

GeneReviews

Differential Diagnosis

A number of disorders have features that overlap with those of Stickler syndrome. Pierre Robin sequence. Approximately one third of individuals with Pierre Robin sequence have an underlying syndrome, of which Stickler syndrome is the most common . Binder syndrome (maxillonasal dysplasia) (OMIM 155050). Affected individuals typically have an unusually flat, underdeveloped midface (midfacial hypoplasia), with an abnormally short nose and flat nasal bridge and underdeveloped upper jaw. Binder syndrome may not represent a distinct disease entity or syndrome but rather a developmental anomaly that can be seen in several syndromes such as Stickler syndrome, campomelic dysplasia, and chondrodysplasia punctata. Table 4. Genes of Interest in the Differential Diagnosis of Stickler Syndrome

Gene(s)	Disorder	MOI	Clinical Features of Differential Diagnosis Disorder
ZNF644	High-grade myopia (OMIM PS160700)	ADARXL1	Refractive error ≥ 6 diopters
ATOH7	Nonsyndromic congenital retinal nonattachment (NCRNA) (OMIM 221900)	AR	Congenital insensitivity to light, massive retrolental mass, shallow anterior chamber, microphthalmia, nystagmus in otherwise normal individuals
BMP4	BMP4-related disorder2	AD	High myopia, congenital hypoplasia of the vitreous, retinal detachment, high-arched palate, retrognathia, sensorineural hearing loss
GZF1	GZF1-related disorder2	AR	High myopia, retinal detachment, chorioretinal coloboma, hearing loss, joint laxity dislocations, kyphoscoliosis, talipes
KCNJ13	Snowflake vitreoretinal degeneration (OMIM 193230)	AD	Cataract, fibrillar degeneration of the vitreous, peripheral retinal abnormalities incl minute, shiny, crystalline-like deposits resembling snowflakes. Individuals show a low rate of retinal detachment.
LOXL3	LOXL3-related disorder2	AR	Myopia, vitreous detachment, flat midface, cleft palate, micrognathia, mild conductive hearing loss, joint laxity
LRP2	LRP2-related disorder2 (See also Donnai-Barrow Syndrome.)	AR	Myopia, retinal detachment, abnormal vitreous, flat midface, retrognathia, joint pain
VCAN	VCAN-related vitreoretinopathy (incl Wagner syndrome erosive vitreoretinopathy)(OMIM 143200)	AD	"Optically empty vitreous" on slit lamp exam avascular vitreous strands veils, myopia, presenile cataract, night blindness of variable degree assoc w/progressive chorioretinal atrophy, retinal traction retinal detachment at advanced stages of the disease visual acuity.

Source: GeneReviews — "Stickler Syndrome"

System/Concern	Evaluation	Comment
Eyes	Ophthalmologic exam	Preferably by expert ophthalmologist familiar w/the ophthalmic complications (e.g., high myopia, vitreous changes, retinal detachment)
Genetic counseling	By genetics professionals1	To obtain a pedigree inform affected persons their families re nature, MOI, implications of Stickler syndrome to facilitate medical personal decision making Family support resources
Stickler Syndrome: Treatment of Manifestations Manifestation/Concern	Treatment	Considerations/Other
Respiratory	Infants w/PRS may require tracheostomy to ensure a competent airway.	In most persons, micrognathia tends to become less prominent over time, allowing for removal of tracheostomy.
Micrognathia	Mandibular advancement procedure may be needed for persistent micrognathia to correct malocclusion.	—
Cleft palate	Mgmt per craniofacial specialists incl feeding/nutrition mgmt	Ocular manifestations
Early-onset arthropathy	Symptomatic treatment incl over-the-counter anti-inflammatory medications before after physical activity	At present, no prophylactic therapies to minimize joint damage in affected persons exist.
Spinal other osteoarticular abnormalities	Treatment per orthopedist	PRS = Pierre Robin sequence 1. To monitor existing manifestations, the individual's response to supportive care, and the emergence of new manifestations, the evaluations summarized in are recommended. Table 7.
Stickler Syndrome: Recommended Surveillance System/Concern	Evaluation	Frequency
Eyes	Exam by vitreoretinal specialist	Annually Hearing
Orthopedic	Clinical radiographic assessment for joint spine manifestations	As needed Affected individuals should be advised to avoid activities that may lead to traumatic retinal detachment (e.g., contact sports). Some physicians recommend avoiding physical activities that involve high impact to the joints to delay the onset of the arthropathy.

Kisho

Stickler syndrome, type 5

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Prognosis

Surveillance Guidelines

Research Landscape

Medical References

External Resources

OMIM

GARD

Questions for Your Care Team

Questions for Your Care Team

FAQ

Frequently Asked Questions

Clinical Guidance

Explore clinical features

Clinical Guidance

Penetrance

Differential Diagnosis

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Orthopedic

Recent Publications

Stickler syndrome, type 5

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Prognosis

Surveillance Guidelines

Research Landscape

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

FAQ

Frequently Asked Questions

What is Stickler syndrome, type 5?

What are the symptoms of Stickler syndrome, type 5?

What causes Stickler syndrome, type 5?

How is Stickler syndrome, type 5 inherited?

How is Stickler syndrome, type 5 diagnosed?

Are there treatments for Stickler syndrome, type 5?

What complications might arise from Stickler syndrome, type 5?

How might Stickler syndrome, type 5 affect daily life?

What is the life expectancy for someone with Stickler syndrome, type 5?

Are there any specialists recommended for managing Stickler syndrome, type 5?

Clinical Guidance

Explore clinical features

Clinical Guidance

Penetrance

Differential Diagnosis

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Orthopedic

Recent Publications