Overview
Pinsky-Di George-Harley syndrome is an extremely rare genetic condition that was first described in the medical literature in the 1960s. It is also sometimes referred to as Pinsky syndrome. This syndrome primarily affects males and is characterized by a combination of intellectual disability, distinctive facial features, and skeletal abnormalities. Affected individuals may have short stature, unusual facial characteristics such as a broad or flat nose, widely spaced eyes, and abnormalities of the hands and feet. Some patients also experience hearing loss and genital abnormalities such as underdeveloped genitalia (hypogonadism). The condition is thought to follow an X-linked recessive pattern of inheritance, meaning it mainly affects boys, while mothers can be carriers without showing symptoms. Because this syndrome is so rare, with only a handful of cases reported in the medical literature, there is limited information about the full range of symptoms and the best approaches to treatment. Management is generally supportive and focuses on addressing individual symptoms, such as special education services for intellectual disability, orthopedic care for skeletal problems, and hearing aids if hearing loss is present. There is currently no cure or disease-specific therapy available.
Also known as:
Key symptoms:
Intellectual disabilityShort statureDistinctive facial featuresBroad or flat noseWidely spaced eyesAbnormalities of the hands and feetHearing lossUnderdeveloped genitaliaSkeletal abnormalitiesDelayed developmentLow muscle toneSpeech delay
X-linked recessive
Carried on the X chromosome; typically affects males more than females
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Pinsky-Di George-Harley syndrome.
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Specialists
View all specialists →No specialists are currently listed for Pinsky-Di George-Harley 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 Pinsky-Di George-Harley 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.What specific symptoms should we watch for as our child grows?,Is genetic testing available that could help confirm the diagnosis or identify the exact gene involved?,What early intervention services do you recommend for our child's development?,How often should hearing and vision be checked?,Are there any skeletal problems that need to be monitored or treated?,Should we see an endocrinologist about genital or growth concerns?,Are there any other family members who should be tested as possible carriers?
Common questions about Pinsky-Di George-Harley syndrome
What is Pinsky-Di George-Harley syndrome?
Pinsky-Di George-Harley syndrome is an extremely rare genetic condition that was first described in the medical literature in the 1960s. It is also sometimes referred to as Pinsky syndrome. This syndrome primarily affects males and is characterized by a combination of intellectual disability, distinctive facial features, and skeletal abnormalities. Affected individuals may have short stature, unusual facial characteristics such as a broad or flat nose, widely spaced eyes, and abnormalities of the hands and feet. Some patients also experience hearing loss and genital abnormalities such as under
How is Pinsky-Di George-Harley syndrome inherited?
Pinsky-Di George-Harley syndrome follows a x-linked recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Pinsky-Di George-Harley syndrome typically begin?
Typical onset of Pinsky-Di George-Harley syndrome is neonatal. Age of onset can vary across affected individuals.