This syndrome is characterized by progressive calcification of the brain and spinal cord, growth retardation, psychomotor anomalies, deafness and anemia. Renal tubular acidosis was found in one patien...
Comprehensive, easy-to-understand information about this condition
How we create this content →Research studies investigating treatments and therapies for this condition.
Active Trials
Total Trials
Data from ClinicalTrials.gov Jan 8, 2026
Research studies investigating treatments and therapies for this condition.
Active Trials
Total Trials
Data from ClinicalTrials.gov Jan 8, 2026
The documentation for central nervous system calcification-deafness-tubular acidosis-anemia syndrome is limited primarily due to its extreme rarity, with fewer than one in a million individuals affected. This scarcity results in minimal systematic clinical studies and a lack of comprehensive genetic characterization. The condition's phenotypic variability further complicates understanding and documentation, leaving many questions unanswered.
The clinical picture of this syndrome includes several neurological and developmental issues. Common features are seizures, cerebellar hypoplasia, and spastic tetraplegia, which can significantly impact motor function. Patients may also experience developmental regression and absent speech, highlighting the profound effects on communication and learning. Atopic dermatitis and increased circulating ferritin concentration are also notable, indicating potential systemic involvement.
To navigate your care effectively, consider seeking a neurologist with experience in rare neurological syndromes. They may provide insights into managing symptoms and coordinating care. Additionally, you might explore resources like the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov for information on rare conditions and potential support. While no patient organizations are currently identified for this syndrome, participating in clinical trials could provide valuable information and support.
Currently, there are no orphan drugs designated for this syndrome, but there is one active clinical trial available for patients. You can explore the details of this trial at ClinicalTrials.gov using the following link: https://clinicaltrials.gov/search?cond=central%20nervous%20system%20calcification-deafness-tubular%20acidosis-anemia%20syndrome. Participation in clinical trials may offer access to new therapies and contribute to the understanding of this rare condition.
Actionable guidance for navigating care for central nervous system calcification-deafness-tubular acidosis-anemia syndrome
To navigate your care effectively, consider seeking a neurologist with experience in rare neurological syndromes. They may provide insights into managing symptoms and coordinating care. Additionally, you might explore resources like the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov for information on rare conditions and potential support. While no patient organizations are currently identified for this syndrome, participating in clinical trials could provide valuable information and support.
Consider asking your healthcare providers these condition-specific questions
Helpful links for rare disease information and support
Clinical profile data for this condition is not yet available. Phenotype information may still be loading below.
Research studies investigating treatments and therapies for this condition.
Active Trials
Total Trials
Data from ClinicalTrials.gov Jan 8, 2026
Consider asking your healthcare providers these condition-specific questions
European rare disease database
Genetic and Rare Diseases Info Center
AI-Generated Content: This summary was generated using AI. Content has been fact-checked. Always consult with qualified healthcare providers for medical guidance.
Kisho delivers this disease record via API, including phenotypes (HPO), genes, orphan drug designations, screening status, and PAG mapping, with version history and governance.