ICD10 code of Door Syndrome and ICD9 code

DOOR syndrome, also known as deafness, onychodystrophy, osteodystrophy, and intellectual disability syndrome, does not have a unique, dedicated ICD-10 or ICD-9 code; it is typically classified under broader categories for congenital malformation syndromes or specific symptoms. Clinicians often use ICD-10 code Q87.89 (other specified congenital malformation syndromes, not elsewhere classified) or code Q87.0 (congenital malformation syndromes predominantly affecting facial appearance) to categorize cases of DOOR syndrome for billing and registry purposes.

What are the core clinical features of DOOR syndrome?

DOOR syndrome is a rare, multisystem genetic disorder defined by its eponymous clinical features. Patients typically present with sensorineural hearing loss, nail hypoplasia or aplasia (onychodystrophy), specific bone abnormalities in the fingers and toes (osteodystrophy), and varying degrees of intellectual disability. Because DOOR syndrome is exceptionally rare, with fewer than 50 cases reported in medical literature, diagnosis often relies on the clinical recognition of these four primary pillars by a geneticist.

How is a diagnosis of DOOR syndrome confirmed?

Since there is no specific diagnostic code like an ICD-10 entry for DOOR syndrome, diagnosis is confirmed through a combination of clinical assessment and molecular genetic testing. Most cases of DOOR syndrome are caused by biallelic mutations in the TBC1D24 gene. Diagnosis usually follows this structured approach:

• Clinical Evaluation: Assessment of hearing, skeletal X-rays of the hands and feet, and neurodevelopmental screening.


• Genetic Testing: Targeted sequencing of the TBC1D24 gene to identify pathogenic variants.


• Differential Diagnosis: Distinguishing DOOR syndrome from other syndromes featuring sensorineural hearing loss and distal limb anomalies.

Is DOOR syndrome hereditary?

DOOR syndrome is inherited in an autosomal recessive pattern. This means that an individual must inherit two copies of the mutated gene—one from each carrier parent—to express the symptoms of DOOR syndrome. Genetic counseling is highly recommended for families affected by DOOR syndrome to understand the 25% recurrence risk for each future pregnancy.

Support for those living with DOOR syndrome

Navigating a rare diagnosis can feel isolating, but you are not alone. Currently, 13 people with DOOR syndrome have joined the DiseaseMaps.org community to share their experiences and provide mutual support. Connecting with others who understand the unique challenges of managing DOOR syndrome can be an invaluable part of your journey.

Next steps

• Consult a clinical geneticist to discuss molecular testing and family screening for DOOR syndrome.


• Schedule regular monitoring with an audiologist and a pediatric orthopedist to manage the specific symptoms of DOOR syndrome.


• Join the DOOR syndrome community at DiseaseMaps.org to connect with other families and share resources.

Medical disclaimer: This information is for educational purposes only and should not replace professional medical advice, diagnosis, or treatment; always consult with a qualified healthcare provider regarding your specific health condition.

References

• NIH Genetic and Rare Diseases Information Center (GARD): DOOR syndrome profile.


• OMIM (Online Mendelian Inheritance in Man): Entry #220500 (DOOR syndrome).


• Orphanet: Rare disease database entry for Deafness-onychodystrophy-osteodystrophy-intellectual disability syndrome.


• PubMed: Current clinical research on TBC1D24-related disorders.