Short answer · Medically reviewed summary · Last updated: 2026-05-08
DOOR syndrome is an extremely rare, multisystem genetic disorder, with fewer than 50 cases documented in global medical literature to date. Due to its status as an ultra-rare condition, precise incidence and prevalence rates remain unknown, though it is recognized as a condition that affects both males and females across various ethnic populations. Is DOOR syndrome considered rare or ultra-rare? DOOR syndrome is classified as an ultra-rare condition.
What is the prevalence of Door Syndrome?
Prevalence of Door Syndrome: how many people are affected worldwide, differences by sex and region, with sources.
DOOR syndrome is an extremely rare, multisystem genetic disorder, with fewer than 50 cases documented in global medical literature to date. Due to its status as an ultra-rare condition, precise incidence and prevalence rates remain unknown, though it is recognized as a condition that affects both males and females across various ethnic populations.
Is DOOR syndrome considered rare or ultra-rare?
DOOR syndrome is classified as an ultra-rare condition. The acronym stands for its hallmark features: Deafness, Onychodystrophy (abnormal nails), Osteodystrophy (bone abnormalities), and intellectual disability (Retardation). Because of the limited number of reported cases, it is difficult to establish formal prevalence statistics; however, the rarity suggests that many individuals may remain undiagnosed or misdiagnosed as having more common developmental or skeletal disorders.
How does DOOR syndrome affect different populations?
Current clinical data does not indicate a predilection for any specific gender, ethnicity, or geographic region. DOOR syndrome is primarily diagnosed in early childhood, as the characteristic physical features—such as nail hypoplasia and sensorineural hearing loss—often manifest shortly after birth or during infancy. The progression of the condition varies, but the intellectual and developmental impacts are typically observed during the pediatric years.
Why is gathering accurate data for DOOR syndrome challenging?
Several factors complicate our understanding of the prevalence of DOOR syndrome, including:
- Diagnostic Complexity: The clinical presentation of DOOR syndrome overlaps with several other genetic syndromes, leading to frequent misdiagnosis.
- Genetic Heterogeneity: Mutations in the TBC1D24 gene are often linked to the condition, but the phenotypic expression can be highly variable.
- Underreporting: As an ultra-rare disease, many cases are not formally registered in central databases, making it difficult to track the exact number of people living with the condition.
What is the perspective from the patient community?
While formal medical literature cites fewer than 50 cases, the DiseaseMaps.org community currently includes 13 individuals who have shared their experiences with DOOR syndrome. This real-world data provides invaluable insights into the daily challenges faced by patients and families, highlighting the importance of community-led registries in rare disease research.
Next steps
- Consult a clinical geneticist to discuss genetic testing if you suspect a diagnosis of DOOR syndrome.
- Join the 13 members on DiseaseMaps.org to connect with others navigating this rare journey.
- Review the latest research on the TBC1D24 gene to understand the underlying mechanisms of the disorder.
Medical disclaimer: This information is for educational purposes only and should not replace professional medical advice, diagnosis, or treatment.
References
- Orphanet: DOOR syndrome (ORPHA:2366)
- NIH Genetic and Rare Diseases Information Center (GARD): DOOR syndrome
- OMIM (Online Mendelian Inheritance in Man): DOOR Syndrome (#220500)
- PubMed: Clinical and genetic spectrum of TBC1D24-related disorders
