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Last updated: 5/21/2025
Years published: 2025
NORD gratefully acknowledges Gioconda Alyea, MD (FMG), MS, National Organization for Rare Disorders, for the preparation of this report.
Marbach-Schaaf neurodevelopmental syndrome (MASNS) is a rare condition that affects brain development and function. It is characterized by intellectual disability, developmental delay, memory loss and behavioral abnormalities including autism spectrum disorder and attention-deficit/hyperactivity disorder (ADHD). Affected people also have movement disorders as well as high pain tolerance, sleep disturbances and variable nonspecific facial differences.1,2
MASNS is caused by changes (variants) in a gene called PRKAR1B. Inheritance is autosomal dominant 1,2,3,4
There is no cure for MASNS at this time. Treatment focuses on managing the individual symptoms and helping each person reach their full potential through therapies, medications and supportive care.
Marbach-Schaaf neurodevelopmental syndrome is named after the doctors who first described it, Dr. Felix Marbach and Prof. Dr. Christian Schaaf. There are only a few reports of people diagnosed with this condition in the medical literature.
The symptoms of MASNS can vary widely from person to person. Some children may have more severe issues than others and not everyone has the same symptoms. The following features have been reported in people with this condition:1,2,3
In a few children who had brain imaging the images showed:
Marbach-Schaaf neurodevelopmental syndrome (MASNS) is caused by changes (variants) in the PRKAR1B which plays an important role in brain development. Variants in this gene affect memory, behavior and how pain is felt. These findings came from both animal studies and observations in the few children reported with the condition.1,2,3
MASNS follows autosomal dominant inheritance.2,3 Dominant genetic disorders occur when only a single copy of a disease-causing gene variant is necessary to cause the disease. The gene variant can be inherited from either parent or can be the result of a new (de novo) changed gene in the affected individual that is not inherited. The risk of passing the gene variant from an affected parent to a child is 50% for each pregnancy. The risk is the same for males and females.
Marbach-Schaaf neurodevelopmental syndrome (MASNS) is very rare. It has only recently been officially recognized and described and only about 13 affected people have been reported so far.1,2 Research is ongoing to understand how common it is and how symptoms may vary between individuals.5
Doctors may suspect MASNS in children who show:1,2
A genetic test identifying a variant in the PRKAR1B gene confirms the diagnosis.
One feature that may be helpful for a clinical diagnosis of MASNS is a very high tolerance to pain. Many affected children didn’t react when hurt or touched in ways that would normally cause discomfort, even when pricked by needles or when they got burns or blisters. Interestingly, a few children reacted with pain to gentle touches like handholding or hair brushing, which may show that how they process pain is quite unusual. These observations came from parents and doctors, not from formal testing, but they were consistent in most children studied.
Treatment
There is no cure or any specific treatment guidelines for MASNS and treatment focuses on managing symptoms and supporting development. As with other conditions that affect cognition and development, treatment may include:1,2
It may be recommended to have regular checkups with an endocrinologist (hormone specialist), especially if symptoms of adrenal problems appear. An abdominal ultrasound to check for possible adrenal gland issues may also be indicated.
Other specialists that might be included in the care team include neurologists, psychiatrics, medical geneticists and behavioral and physical and occupational therapists.
Further information about MASNS is available from:
Prof. Dr. med. Christian Schaaf
Institute of Human Genetics
Universitats Klinikum Heidelberg
Email: [email protected]
Telephone: +49 6221 56-5151
Information on current clinical trials is posted on the Internet at www.clinicaltrials.gov All studies receiving U.S. Government funding, and some supported by private industry, are posted on this government web site.
For information about clinical trials being conducted at the NIH Clinical Center in Bethesda, MD, contact the NIH Patient Recruitment Office:
Tollfree: (800) 411-1222
TTY: (866) 411-1010
Email: [email protected]
Some current clinical trials also are posted on the following page on the NORD website:
https://rarediseases.org/for-patients-and-families/information-resources/news-patient-recruitment/
For information about clinical trials sponsored by private sources, contact:
www.centerwatch.com
For information about clinical trials conducted in Europe, contact:
https://www.clinicaltrialsregister.eu/
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NORD and MedicAlert Foundation have teamed up on a new program to provide protection to rare disease patients in emergency situations.
Learn more https://rarediseases.org/patient-assistance-programs/medicalert-assistance-program/Ensuring that patients and caregivers are armed with the tools they need to live their best lives while managing their rare condition is a vital part of NORD’s mission.
Learn more https://rarediseases.org/patient-assistance-programs/rare-disease-educational-support/This first-of-its-kind assistance program is designed for caregivers of a child or adult diagnosed with a rare disorder.
Learn more https://rarediseases.org/patient-assistance-programs/caregiver-respite/No patient organizations found related to this disease state.