OBSOLETE: Atrichia-intellectual disability and growth delay syndrome

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Overview

Atrichia-intellectual disability and growth delay syndrome is an extremely rare genetic condition that has been described in only a very small number of individuals in the medical literature. The term 'OBSOLETE' in its name indicates that this condition may have been reclassified or merged with another diagnosis as medical understanding has advanced. The syndrome was originally characterized by three main features: atrichia (absence or severe loss of hair), intellectual disability (difficulties with learning and thinking), and growth delay (slower than expected physical growth during childhood). Affected individuals may be born with little or no hair, and this hair loss tends to be permanent. Children with this condition may show delays in reaching developmental milestones such as sitting, walking, and talking. Physical growth, including height and weight, may fall below what is expected for their age. Because this condition is so rare, the treatment approach has been largely supportive, focusing on managing individual symptoms. This may include special education services for intellectual disability, growth monitoring, and dermatological care for skin and hair concerns. There is currently no cure or specific targeted therapy for this syndrome.

Key symptoms:

Absence or severe loss of hair from birthIntellectual disability or learning difficultiesSlower than expected physical growthShort statureDelayed developmental milestonesPossible skin abnormalitiesLow body weight for ageDelayed speech developmentDelayed motor skills such as walking

Inheritance

Autosomal recessive

Passed on when both parents carry the same gene change; often skips generations

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: Atrichia-intellectual disability and growth delay syndrome.

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No actively recruiting trials found for OBSOLETE: Atrichia-intellectual disability and growth delay syndrome at this time.

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No specialists are currently listed for OBSOLETE: Atrichia-intellectual disability and growth delay 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: Atrichia-intellectual disability and growth delay syndrome.

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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.What genetic testing should be done to confirm or better understand this diagnosis?,Are there any treatable causes of the growth delay, such as a hormone deficiency?,What therapies or early intervention services would benefit my child's development?,Should we see a dermatologist about the hair loss, and are there any treatment options?,How often should my child's growth and development be monitored?,Is genetic counseling recommended for our family regarding future pregnancies?,Has this condition been reclassified, and is there a more current diagnosis we should be aware of?

Common questions about OBSOLETE: Atrichia-intellectual disability and growth delay syndrome

What is OBSOLETE: Atrichia-intellectual disability and growth delay syndrome?

Atrichia-intellectual disability and growth delay syndrome is an extremely rare genetic condition that has been described in only a very small number of individuals in the medical literature. The term 'OBSOLETE' in its name indicates that this condition may have been reclassified or merged with another diagnosis as medical understanding has advanced. The syndrome was originally characterized by three main features: atrichia (absence or severe loss of hair), intellectual disability (difficulties with learning and thinking), and growth delay (slower than expected physical growth during childhood

How is OBSOLETE: Atrichia-intellectual disability and growth delay syndrome inherited?

OBSOLETE: Atrichia-intellectual disability and growth delay syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.

At what age does OBSOLETE: Atrichia-intellectual disability and growth delay syndrome typically begin?

Typical onset of OBSOLETE: Atrichia-intellectual disability and growth delay syndrome is neonatal. Age of onset can vary across affected individuals.