OBSOLETE: Corpus callosum agenesis-double urinary collecting system-trigonocephaly syndrome

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Overview

Corpus callosum agenesis-double urinary collecting system-trigonocephaly syndrome is an extremely rare condition that has been described in medical literature but is now classified as obsolete in disease databases, meaning it may have been reclassified or merged with another condition. This syndrome was characterized by a combination of three main features: agenesis (absence) of the corpus callosum (the band of nerve fibers connecting the two halves of the brain), a double urinary collecting system (a structural abnormality of the kidneys where there are two sets of tubes draining urine instead of one), and trigonocephaly (a triangular shape of the forehead caused by premature fusion of a skull bone). Children born with this condition could experience developmental delays, intellectual disability, and various physical abnormalities. Because this condition is so rare and now considered obsolete in classification systems, very little is known about its full range of symptoms, underlying genetic cause, or optimal treatment. Management would have been supportive and symptom-based, potentially involving neurosurgery, urology, and craniofacial surgery depending on the severity of each feature. Families affected by this condition should work closely with a clinical geneticist to determine whether a more current diagnosis or classification applies.

Also known as:

Key symptoms:

Triangular-shaped forehead (trigonocephaly)Absence of the connection between the two brain halvesDouble collecting system in the kidneysDevelopmental delaysIntellectual disabilityUnusual facial featuresPossible seizuresLearning difficultiesPossible urinary tract infections due to kidney abnormalityAbnormal head shape

Inheritance

Variable

Can be inherited in different ways depending on the underlying gene

Age of Onset

Neonatal

Begins at or shortly after birth (first 4 weeks)

Orphanet ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for OBSOLETE: Corpus callosum agenesis-double urinary collecting system-trigonocephaly syndrome.

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No actively recruiting trials found for OBSOLETE: Corpus callosum agenesis-double urinary collecting system-trigonocephaly syndrome at this time.

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Search ClinicalTrials.gov ↗Join the OBSOLETE: Corpus callosum agenesis-double urinary collecting system-trigonocephaly syndrome community →

No specialists are currently listed for OBSOLETE: Corpus callosum agenesis-double urinary collecting system-trigonocephaly syndrome.

View NORD Rare Disease Centers ↗Undiagnosed Disease Network ↗

Treatment Centers

8 centers
🏥 NORD

Baylor College of Medicine Rare Disease Center

Baylor College of Medicine

📍 Houston, TX

🏥 NORD

Stanford Medicine Rare Disease Center

Stanford Medicine

📍 Stanford, CA

🔬 UDN

NIH Clinical Center Undiagnosed Diseases Program

National Institutes of Health

📍 Bethesda, MD

🔬 UDN

UCLA UDN Clinical Site

UCLA Health

📍 Los Angeles, CA

🔬 UDN

Baylor College of Medicine UDN Clinical Site

Baylor College of Medicine

📍 Houston, TX

🔬 UDN

Harvard/MGH UDN Clinical Site

Massachusetts General Hospital

📍 Boston, MA

🏥 NORD

Mayo Clinic Center for Individualized Medicine

Mayo Clinic

📍 Rochester, MN

👤 Mayo Clinic Center for Individualized Medicine

🏥 NORD

UCLA Rare Disease Day Program

UCLA Health

📍 Los Angeles, CA

Travel Grants

No travel grants are currently matched to OBSOLETE: Corpus callosum agenesis-double urinary collecting system-trigonocephaly syndrome.

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Latest news about OBSOLETE: Corpus callosum agenesis-double urinary collecting system-trigonocephaly syndrome

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Caregiver Resources

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Questions for your doctor

Bring these to your next appointment

  • Q1.Has this diagnosis been reclassified under a different or more current condition name?,What genetic testing should we pursue to better understand the cause?,Does my child need surgery for the skull shape abnormality, and if so, when?,How should we monitor the double collecting system in the kidneys?,What early intervention services should we start right away?,Are there any clinical trials or research studies relevant to this condition?,What is the expected developmental outlook for my child?

Common questions about OBSOLETE: Corpus callosum agenesis-double urinary collecting system-trigonocephaly syndrome

What is OBSOLETE: Corpus callosum agenesis-double urinary collecting system-trigonocephaly syndrome?

Corpus callosum agenesis-double urinary collecting system-trigonocephaly syndrome is an extremely rare condition that has been described in medical literature but is now classified as obsolete in disease databases, meaning it may have been reclassified or merged with another condition. This syndrome was characterized by a combination of three main features: agenesis (absence) of the corpus callosum (the band of nerve fibers connecting the two halves of the brain), a double urinary collecting system (a structural abnormality of the kidneys where there are two sets of tubes draining urine instea

At what age does OBSOLETE: Corpus callosum agenesis-double urinary collecting system-trigonocephaly syndrome typically begin?

Typical onset of OBSOLETE: Corpus callosum agenesis-double urinary collecting system-trigonocephaly syndrome is neonatal. Age of onset can vary across affected individuals.