OBSOLETE: Developmental delay-deafness syndrome, Hildebrand type

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Overview

Developmental delay-deafness syndrome, Hildebrand type, is an extremely rare genetic condition that was previously described in medical literature but has since been classified as 'obsolete' in disease databases like Orphanet. This means that the condition may have been reclassified, merged with another diagnosis, or the original description may no longer be considered a distinct disease entity based on updated genetic and clinical understanding. When it was described, this syndrome was characterized by a combination of developmental delay (meaning children reached milestones like sitting, walking, and talking later than expected) and hearing loss (deafness). Children affected by this condition would have had difficulties with learning, communication, and overall development. The hearing loss could range from mild to severe and would further complicate speech and language development. Because this entry is now obsolete, patients or families who were previously given this diagnosis should speak with a clinical geneticist to determine whether a more current and specific diagnosis applies to their situation. Advances in genetic testing, particularly whole exome and whole genome sequencing, have allowed many previously grouped conditions to be reclassified into more precise diagnoses with better-defined genetic causes and management strategies. Treatment would have been supportive, focusing on hearing aids or cochlear implants for hearing loss, speech therapy, occupational therapy, and educational support for developmental delays.

Key symptoms:

Delayed developmental milestonesHearing loss or deafnessDelayed speech and language developmentLearning difficultiesDifficulty with communication

Age of Onset

Infantile

Begins in infancy, roughly 1 month to 2 years old

Orphanet ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for OBSOLETE: Developmental delay-deafness syndrome, Hildebrand type.

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No actively recruiting trials found for OBSOLETE: Developmental delay-deafness syndrome, Hildebrand type at this time.

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No specialists are currently listed for OBSOLETE: Developmental delay-deafness syndrome, Hildebrand type.

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: Developmental delay-deafness syndrome, Hildebrand type.

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Community

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Caregiver Resources

NORD Caregiver Resources

Support, advocacy, and financial assistance for caregivers of rare disease patients.

Mental Health Support

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Family & Caregiver Grants

Financial assistance programs specifically for caregivers of rare disease patients.

Social Security Disability

Learn how rare disease patients may qualify for SSDI/SSI benefits.

Questions for your doctor

Bring these to your next appointment

  • Q1.Since this diagnosis is now considered obsolete, what is the most current diagnosis for my child's condition?,Should we pursue whole exome or whole genome sequencing to get a more precise genetic diagnosis?,What early intervention services should we start right away?,What type of hearing support would be most beneficial — hearing aids or cochlear implants?,Are there any clinical trials or research studies that might be relevant?,What is the expected developmental trajectory for my child?,Are there any other medical issues we should screen for?

Common questions about OBSOLETE: Developmental delay-deafness syndrome, Hildebrand type

What is OBSOLETE: Developmental delay-deafness syndrome, Hildebrand type?

Developmental delay-deafness syndrome, Hildebrand type, is an extremely rare genetic condition that was previously described in medical literature but has since been classified as 'obsolete' in disease databases like Orphanet. This means that the condition may have been reclassified, merged with another diagnosis, or the original description may no longer be considered a distinct disease entity based on updated genetic and clinical understanding. When it was described, this syndrome was characterized by a combination of developmental delay (meaning children reached milestones like sitting, wa

At what age does OBSOLETE: Developmental delay-deafness syndrome, Hildebrand type typically begin?

Typical onset of OBSOLETE: Developmental delay-deafness syndrome, Hildebrand type is infantile. Age of onset can vary across affected individuals.