Overview
Grubben-de Cock-Borghgraef syndrome is an extremely rare genetic condition that affects multiple body systems. It was first described in a small number of patients and is characterized by a combination of intellectual disability, distinctive facial features, and physical growth problems. People with this syndrome typically have a small head (microcephaly), short stature, and mild to moderate intellectual disability. Facial features may include a flat face, a broad nose, and other subtle differences in appearance. Some individuals may also have skin abnormalities, such as dry or thickened skin, and sparse hair. Because this condition is so rare, with only a handful of cases reported in the medical literature, our understanding of the full range of symptoms and the best approaches to care is still limited. There is currently no cure or specific treatment for this syndrome. Management focuses on supportive care, including educational support for learning difficulties, regular monitoring of growth and development, and addressing any individual symptoms as they arise. Early intervention programs and therapies such as speech therapy and occupational therapy can help affected individuals reach their full potential.
Key symptoms:
Intellectual disability (mild to moderate)Small head size (microcephaly)Short statureFlat facial appearanceBroad or flat noseDry or thickened skinSparse hairDelayed speech and language developmentDelayed motor milestonesDistinctive facial features
Clinical phenotype terms (15)— hover any for plain English
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Childhood
Begins in childhood, roughly ages 1 to 12
Treatments
No FDA-approved treatments are currently listed for Grubben-de Cock-Borghgraef syndrome.
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Specialists
View all specialists →No specialists are currently listed for Grubben-de Cock-Borghgraef 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 Grubben-de Cock-Borghgraef 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
Rare disease caregiving can be isolating. Connect with counseling and peer support.
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 developmental therapies would benefit my child the most right now?,Should we pursue genetic testing such as whole exome sequencing to confirm the diagnosis?,How often should my child have growth and developmental check-ups?,Are there other conditions we should rule out that look similar to this syndrome?,What educational supports and accommodations should we request at school?,What is the chance that future children could also be affected?,Are there any research studies or registries we can participate in?
Common questions about Grubben-de Cock-Borghgraef syndrome
What is Grubben-de Cock-Borghgraef syndrome?
Grubben-de Cock-Borghgraef syndrome is an extremely rare genetic condition that affects multiple body systems. It was first described in a small number of patients and is characterized by a combination of intellectual disability, distinctive facial features, and physical growth problems. People with this syndrome typically have a small head (microcephaly), short stature, and mild to moderate intellectual disability. Facial features may include a flat face, a broad nose, and other subtle differences in appearance. Some individuals may also have skin abnormalities, such as dry or thickened skin,
How is Grubben-de Cock-Borghgraef syndrome inherited?
Grubben-de Cock-Borghgraef syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Grubben-de Cock-Borghgraef syndrome typically begin?
Typical onset of Grubben-de Cock-Borghgraef syndrome is childhood. Age of onset can vary across affected individuals.