Holoprosencephaly-craniosynostosis syndrome

Holoprosencephaly-craniosynostosis syndrome is a rare brain and skull condition that affects babies from before birth. It combines two serious problems: holoprosencephaly, where the front part of the brain (called the forebrain) does not divide properly into two halves, and craniosynostosis, where the bones of the skull fuse together too early. Together, these problems affect how the brain grows and how the head is shaped. In a healthy baby, the forebrain splits into two separate halves during early pregnancy. In holoprosencephaly, this split does not happen fully — or at all. This can cause a wide range of brain differences, from very mild to very severe. At the same time, the early closing of skull bones (craniosynostosis) puts pressure on the growing brain and changes the shape of the head. Babies may have unusual facial features, such as a small or closely spaced eyes, a flat nose, or a cleft lip and palate. Symptoms vary widely depending on how severely the brain is affected. Some children have significant intellectual disability, seizures, and problems with movement or feeding. Others may have milder learning and developmental challenges. There is no cure, but treatment focuses on managing symptoms — including surgery for skull and facial problems, seizure medications, and therapies to support development. A team of specialists is usually needed to care for children with this condition.

Bring these to your next appointment

• Q1.What type and severity of holoprosencephaly does my child have, and what does that mean for their development?,Does my child need surgery for the craniosynostosis, and when should it happen?,What genetic testing should we do, and what are the chances this could happen again in a future pregnancy?,What therapies — such as speech, physical, or occupational therapy — should we start right away?,How do we manage seizures, and what should we do if a seizure happens at home?,Are there any hormone or pituitary problems we should watch for?,What support services or early intervention programs are available for our child and family?

Common questions about Holoprosencephaly-craniosynostosis syndrome