Overview
Polymicrogyria-turricephaly-hypogenitalism 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, merged with another condition, or its original description may no longer be considered a distinct syndrome. The name describes three main features: polymicrogyria (a brain malformation where the surface of the brain has too many small folds instead of the normal pattern), turricephaly (a tower-shaped or tall skull), and hypogenitalism (underdevelopment of the genitals or reproductive organs). Because the brain is not formed correctly, affected individuals typically experience intellectual disability, seizures, and developmental delays. The unusual skull shape results from how the skull bones grow and fuse. Underdeveloped genitals may affect sexual development later in life. Because this condition is obsolete in current classification systems, it is possible that patients originally described under this name would today receive a more specific or updated diagnosis. Treatment has been supportive, focusing on managing seizures, providing developmental therapies, and addressing any hormonal or genital abnormalities. There are no specific curative treatments known for this condition.
Key symptoms:
Abnormal brain folds (polymicrogyria)Tower-shaped skullUnderdeveloped genitalsIntellectual disabilitySeizures or epilepsyDevelopmental delaysDifficulty with speech and languageMotor skill difficultiesAbnormal muscle toneFeeding difficulties in infancyShort stature or growth problemsDelayed puberty
Variable
Can be inherited in different ways depending on the underlying gene
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for OBSOLETE: Polymicrogyria-turricephaly-hypogenitalism syndrome.
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Specialists
View all specialists →No specialists are currently listed for OBSOLETE: Polymicrogyria-turricephaly-hypogenitalism syndrome.
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to OBSOLETE: Polymicrogyria-turricephaly-hypogenitalism syndrome.
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.Has modern genetic testing been done to look for a more specific diagnosis?,What type of polymicrogyria does my child have, and how much of the brain is affected?,What is the best approach to controlling seizures, and what are the medication options?,Should my child see a pediatric endocrinologist for the genital underdevelopment?,What developmental therapies would benefit my child the most right now?,Are there any clinical trials or research studies we should consider?,What should I expect in terms of long-term development and independence?
Common questions about OBSOLETE: Polymicrogyria-turricephaly-hypogenitalism syndrome
What is OBSOLETE: Polymicrogyria-turricephaly-hypogenitalism syndrome?
Polymicrogyria-turricephaly-hypogenitalism 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, merged with another condition, or its original description may no longer be considered a distinct syndrome. The name describes three main features: polymicrogyria (a brain malformation where the surface of the brain has too many small folds instead of the normal pattern), turricephaly (a tower-shaped or tall skull), and hypogenitalism (underdevelopment of the genitals or
At what age does OBSOLETE: Polymicrogyria-turricephaly-hypogenitalism syndrome typically begin?
Typical onset of OBSOLETE: Polymicrogyria-turricephaly-hypogenitalism syndrome is neonatal. Age of onset can vary across affected individuals.