Overview
Holoprosencephaly-caudal dysgenesis syndrome is a very rare condition that affects the developing brain and the lower part of the spine and body. The name combines two separate problems: holoprosencephaly, which means the front part of the brain (called the forebrain) did not divide properly into two halves during early pregnancy, and caudal dysgenesis, which means the lower end of the body — including the lower spine, pelvis, and sometimes the legs, kidneys, or bowel — did not form correctly. This combination of brain and lower-body problems happening together in the same person is what makes this syndrome unique and very rare. Because the brain did not form normally, children with this condition often have intellectual disability, seizures, and problems with movement and coordination. The face may also look different, since the brain's development guides how the face forms. The lower-body problems can cause difficulties with walking, bladder and bowel control, and kidney function. Some children are more mildly affected, while others have very serious health challenges from birth. There is currently no cure for this syndrome. Treatment focuses on managing each symptom as it appears. This may include anti-seizure medicines, physical therapy, occupational therapy, surgery for spine or organ problems, and support for learning and development. A team of different specialists usually works together to give the best possible care. Early intervention and supportive therapies can make a meaningful difference in quality of life.
Key symptoms:
Brain did not split into two halves properly (holoprosencephaly)Intellectual disability or developmental delaysSeizuresAbnormal facial features such as closely spaced eyes, a flat nose, or a cleft lip and palateUnderdeveloped or missing lower spine (sacrum or coccyx)Problems with bladder and bowel controlKidney or urinary tract abnormalitiesLeg abnormalities or weaknessDifficulty walking or inability to walkFeeding difficulties in infancyHormonal problems due to pituitary gland involvementBreathing difficulties in severe cases
Clinical phenotype terms (16)— hover any for plain English
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 Holoprosencephaly-caudal dysgenesis syndrome.
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Specialists
View all specialists →No specialists are currently listed for Holoprosencephaly-caudal dysgenesis 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 Holoprosencephaly-caudal dysgenesis 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.How severe is my child's holoprosencephaly, and what does that mean for their development and lifespan?,What genetic tests should we do, and could this condition happen again in a future pregnancy?,Which specialists does my child need to see, and how often?,What therapies — physical, occupational, speech — should we start right away, and how do we access them?,What is the plan if my child has a prolonged seizure at home?,Are there any clinical trials or research studies we should know about?,What support services and educational resources are available for our family?
Common questions about Holoprosencephaly-caudal dysgenesis syndrome
What is Holoprosencephaly-caudal dysgenesis syndrome?
Holoprosencephaly-caudal dysgenesis syndrome is a very rare condition that affects the developing brain and the lower part of the spine and body. The name combines two separate problems: holoprosencephaly, which means the front part of the brain (called the forebrain) did not divide properly into two halves during early pregnancy, and caudal dysgenesis, which means the lower end of the body — including the lower spine, pelvis, and sometimes the legs, kidneys, or bowel — did not form correctly. This combination of brain and lower-body problems happening together in the same person is what makes
At what age does Holoprosencephaly-caudal dysgenesis syndrome typically begin?
Typical onset of Holoprosencephaly-caudal dysgenesis syndrome is neonatal. Age of onset can vary across affected individuals.