Pena Shokeir Syndrome Type 2: Causes, Symptoms, and Treatment
Medically reviewed by Harsha Moole, MD, Internal Medicine. Last reviewed: October 2, 2026.
What kind of doctor treats Pena Shokeir Syndrome Type 2?
A primary care doctor, such as a pediatrician, usually manages the child's overall care and coordinates visits with specialists. Specialists may include a medical geneticist, a nerve and brain doctor called a neurologist, and an eye doctor. A direct primary care or concierge doctor can be a first stop for an evaluation and can refer you to a specialist when needed.
What it is
Pena Shokeir Syndrome Type 2 is another name for cerebro-oculo-facio-skeletal syndrome, or COFS syndrome. It is a very rare condition that a baby is born with. It affects the brain, eyes, muscles, and joints. It is a type of DNA repair condition, which means the body has trouble fixing everyday damage to its genetic material. The condition gets worse over time. It is a different condition from Pena Shokeir Syndrome Type 1.
Symptoms
Signs usually show up before birth or soon after. Babies often have a small head, small eyes, a small jaw, and low-set ears. They have very weak muscle tone, which makes them floppy. Other signs can include cataracts, trouble seeing, hearing loss, seizures, and stiff or bent joints. Many children have intellectual disability and slow growth.
Causes and who gets it
COFS syndrome is caused by changes in genes that help repair DNA. Four genes are known to be involved, called ERCC1, ERCC2, ERCC5, and ERCC6. In many families, the exact gene is not found. The condition is passed down in an autosomal recessive pattern. This means a child needs two changed genes, one from each parent, to have it. Parents who each carry one changed gene usually have no symptoms. Each pregnancy then has a 25 percent chance of being affected.
How doctors diagnose it
Doctors look at the baby's signs and may use an ultrasound during pregnancy or a brain scan after birth. Genetic testing, which uses a blood or saliva sample, can help confirm the diagnosis and show whether parents carry the changed gene. Families may be offered genetic counseling to explain what results mean.
Treatment
There is no cure, and no treatment approved by the FDA for the condition itself. Care focuses on easing symptoms and supporting the child, usually with several types of doctors working together. Feeding help, such as a feeding tube, may be needed for good nutrition. Physical therapy may help with stiff joints, and doctors can treat problems such as seizures.
When to see a doctor
After birth, any baby with stiff joints, very floppy muscles, seizures, or trouble feeding or breathing needs medical care quickly. Parents who already have a child with this condition may want to talk with a doctor and a genetic counselor before a future pregnancy.
How a direct primary care or concierge doctor fits in
A direct primary care doctor is paid a flat monthly fee instead of billing insurance, while a concierge doctor usually charges more and often works with insurance. Either kind can spend extra time coordinating care, managing checkups and follow-ups, and referring the family to the right specialist when needed.
Common questions
Is Pena Shokeir Syndrome Type 2 the same as Type 1?
No. They are different conditions with different causes. Type 2, also called COFS syndrome, also affects the brain and eyes.
Is it the same as COFS syndrome?
Yes. Pena Shokeir Syndrome Type 2 is another name for cerebro-oculo-facio-skeletal syndrome, which is the name most often used now.
Will my other children have it?
When both parents carry one changed gene, each pregnancy has a 25 percent chance of being affected. A genetic counselor can explain the exact chances for a family.
Sources
Medical Disclaimer
This content is for general educational and informational purposes only and is not medical advice. It is not a substitute for professional medical advice, diagnosis, or treatment, and reading it does not create a doctor-patient relationship. Always seek the advice of your physician or another qualified health provider with any questions about a medical condition, and never disregard or delay seeking professional advice because of something you read here. If you think you may have a medical emergency, call 911 (or your local emergency number) immediately.
