Wiedemann Rautenstrauch Syndrome: Causes, Symptoms, and Treatment
Medically reviewed by Harsha Moole, MD, Internal Medicine. Last reviewed: October 2, 2026.
What kind of doctor treats Wiedemann Rautenstrauch Syndrome?
A primary care doctor, usually a pediatrician, often manages the child's overall health and growth. A medical geneticist, a doctor who specializes in inherited conditions, usually helps confirm the diagnosis and guide the care plan. Other specialists may join the team depending on the child's needs.
What it is
Wiedemann Rautenstrauch syndrome is a very rare genetic condition passed down through changes in genes. It belongs to a group of conditions called neonatal progeroid syndromes. Progeroid means the body shows signs of aging earlier than usual. Babies born with this condition are often smaller than expected before birth and grow slowly afterward, with very little fat under the skin. This can make the face and body appear older than they are.
Symptoms
The signs usually show up before or at birth. Babies often weigh less than expected and may have a large head compared to their small body, a pointed face, a large forehead, and wide-set eyes. Very little fat sits under the skin, a problem doctors call lipoatrophy, which means loss of fat tissue. Other signs can include sparse hair, large ears, and delayed development. Some children have trouble feeding and gaining weight.
Causes and who gets it
The condition is thought to be inherited in an autosomal recessive pattern, meaning a child must receive a changed copy of a gene from both parents. Parents who carry only one changed copy usually have no symptoms themselves. Because the condition is so rare, only a small number of cases have been reported.
How doctors diagnose it
Doctors often suspect the condition based on the baby's appearance, including low birth weight, a large head, and very little body fat. Genetic testing can help confirm the diagnosis by examining a blood or saliva sample to look for changed genes.
Treatment
There is no cure for Wiedemann Rautenstrauch syndrome. Treatment focuses on managing each child's specific needs. Feeding support may help babies who struggle to gain weight. Physical and speech therapies can help with delays in movement and talking. A care team works with the family to build a plan that fits the child.
When to see a doctor
Parents should talk to a doctor if a baby is not gaining weight or has trouble feeding, or if the child seems far behind other children in movement or speech. A doctor can check the child's growth and refer the family to a genetics specialist if needed.
Common questions
How rare is Wiedemann Rautenstrauch syndrome?
It is extremely rare, with only a small number of cases reported worldwide. Because so few people have it, doctors learn about the condition mostly from published case reports rather than large studies.
Can Wiedemann Rautenstrauch syndrome be prevented?
There is no known way to prevent it. Families with a history of the condition may want to speak with a genetic counselor before or during pregnancy. A genetic counselor is a trained expert who explains inherited risks.
What is the life expectancy for children with this condition?
Because the condition is so rare, reliable information about life expectancy is limited. Outcomes differ from person to person. A child's care team is the best source of guidance for an individual situation.
Sources
- NIH Genetic and Rare Diseases Information Center - Neonatal pseudo-hydrocephalic progeroid syndrome
- MedlinePlus Genetics - Wiedemann-Rautenstrauch syndrome
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.
