OBSOLETE: Tachycardia-hypertension-microphthalmos-hyperglycinuria syndrome

Tachycardia-hypertension-microphthalmos-hyperglycinuria syndrome is an extremely rare condition that was historically described in medical literature but has since been classified as obsolete in disease databases like Orphanet (code 3284). This means the condition may have been reclassified, merged with another diagnosis, or determined to no longer represent a distinct disease entity. The original description involved a combination of symptoms including a fast heart rate (tachycardia), high blood pressure (hypertension), abnormally small eyes (microphthalmos), and excess glycine in the urine (hyperglycinuria). These features together suggested a multi-system disorder affecting the heart, eyes, and metabolism. Because this condition is now considered obsolete, very little modern clinical data is available. It is possible that patients originally diagnosed with this syndrome would today receive a more specific or updated diagnosis based on current genetic and clinical knowledge. If you or a family member were given this diagnosis, it is strongly recommended to seek re-evaluation by a clinical geneticist who can apply modern diagnostic tools, including genetic sequencing, to determine whether a more precise diagnosis is available. Understanding the correct underlying condition is essential for guiding appropriate treatment and management.

Bring these to your next appointment

• Q1.Since this syndrome is now considered obsolete, is there a more current diagnosis that fits my symptoms?,Would whole exome or whole genome sequencing help identify the underlying cause?,What is the best way to manage my blood pressure and heart rate long-term?,Are there any vision treatments or aids that could help with microphthalmos?,Should I see a metabolic specialist about the elevated glycine in my urine?,Are there any clinical trials or research studies I should know about?,What should I do in an emergency if my heart rate or blood pressure becomes dangerously high?

Common questions about OBSOLETE: Tachycardia-hypertension-microphthalmos-hyperglycinuria syndrome

Related conditions

Other rare diseases commonly researched alongside OBSOLETE: Tachycardia-hypertension-microphthalmos-hyperglycinuria syndrome.

• CHARGE syndrome→
• Glycine encephalopathy→