Neurofibromatosis-Noonan syndrome

Title

Other Names:

NFNS; Noonan neurofibromatosis syndrome; Neurofibromatosis with Noonan phenotype

Categories:

Congenital and Genetic Diseases; Heart Diseases; Rare Cancers; Congenital and Genetic Diseases; Heart Diseases; Rare Cancers; Skin Diseases See More

This disease is grouped under:

Neurofibromatosis

Summary Summary

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.

Orpha Number: 638

Disease definition

Neurofibromatosis-Noonan syndrome (NFNS) is a RASopathy and a variant of neurofibromatosis type 1 (NF1) characterized by the combination of features of NF1, such as café-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, optic nerve glioma and multiple neurofibromas, and Noonan syndrome (NS), such as short stature, typical facial features (hypertelorism, ptosis, downslanting palpebral fissures, low-set posteriorly rotated ears with a thickened helix, and a broad forehead), congenital heart defects and unusual pectus deformity. As these three entities have significant phenotypic overlap, molecular genetic testing is often necessary for a correct diagnosis (such as when café-au-lait spots are present in patients diagnosed with NS).

Visit the Orphanet disease page for more resources.

Last updated: 6/17/2015

Symptoms Symptoms

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms	Other Names	Learn More: HPO ID
80%-99% of people have these symptoms
Abdominal wall muscle weakness		0009023
Abnormality of the helix		0011039
Downslanted palpebral fissures	Downward slanting of the opening between the eyelids	0000494
Hypertelorism	Widely spaced eyes Wide-set eyes [ more ]	0000316
Hypertrophic cardiomyopathy	Enlarged and thickened heart muscle	0001639
Low-set, posteriorly rotated ears		0000368
Multiple cafe-au-lait spots		0007565
Ptosis	Drooping upper eyelid	0000508
Pulmonic stenosis	Narrowing of pulmonic valve	0001642
Short stature	Decreased body height Small stature [ more ]	0004322
Specific learning disability		0001328
Webbed neck	Neck webbing	0000465
30%-79% of people have these symptoms
Abnormality of the lymphatic system		0100763
Abnormality of the thorax	Abnormality of the chest	0000765
Cryptorchidism	Undescended testis Undescended testes [ more ]	0000028
Dysphagia	Poor swallowing Swallowing difficulties Swallowing difficulty [ more ]	0002015
Prolonged bleeding time		0003010
1%-4% of people have these symptoms
Axillary freckling		0000997
Cubitus valgus	Outward turned elbows	0002967
Epicanthus	Eye folds Prominent eye folds [ more ]	0000286
Intellectual disability	Mental deficiency Mental retardation Mental retardation, nonspecific Mental-retardation [ more ]	0001249
Lisch nodules		0009737
Low posterior hairline	Low hairline at back of neck	0002162
Low-set ears	Low set ears Lowset ears [ more ]	0000369
Macrocephaly	Increased size of skull Large head Large head circumference [ more ]	0000256
Malar flattening	Zygomatic flattening	0000272
Neuroblastoma	Cancer of early nerve cells	0003006
Optic nerve glioma		0009734
Pectus excavatum	Funnel chest	0000767
Plexiform neurofibroma		0009732
Posteriorly rotated ears	Ears rotated toward back of head	0000358
Scoliosis	Abnormal curving of the spine	0002650
Thick vermilion border	Full lips Increased volume of lip Plump lips Prominent lips Thick lips [ more ]	0012471
Percent of people who have these symptoms is not available through HPO
Autosomal dominant inheritance		0000006
Delayed speech and language development	Deficiency of speech development Delayed language development Delayed speech Delayed speech acquisition Delayed speech development Impaired speech and language development Impaired speech development Language delay Language delayed Language development deficit Late-onset speech development Poor language development Speech and language delay Speech and language difficulties Speech delay [ more ]	0000750
Depressed nasal bridge	Depressed bridge of nose Flat bridge of nose Flat nasal bridge Flat, nasal bridge Flattened nasal bridge Low nasal bridge Low nasal root [ more ]	0005280
Global developmental delay		0001263
Inguinal freckling	Freckles in groin region	0030052
Midface retrusion	Decreased size of midface Midface deficiency Underdevelopment of midface [ more ]	0011800
Muscle weakness	Muscular weakness	0001324
Prominent nasolabial fold	Deep laugh lines Deep smile lines Prominent laugh lines Prominent smile lines [ more ]	0005272
Secundum atrial septal defect		0001684
Short neck	Decreased length of neck	0000470
Superior pectus carinatum		0000917

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Do you have more information about symptoms of this disease? We want to hear from you.

Last updated: 4/1/2019

Do you have updated information on this disease? We want to hear from you.

Diagnosis Diagnosis

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

Find a Specialist Find a Specialist

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.
The Neurofibromatosis Network provides a tool for locating a neurofibromatosis specialist in your area. Click on Neurofibromatosis Network to access the tool.

Research Research

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Patient Registry

A registry supports research by collecting of information about patients that share something in common, such as being diagnosed with Neurofibromatosis-Noonan syndrome. The type of data collected can vary from registry to registry and is based on the goals and purpose of that registry. Some registries collect contact information while others collect more detailed medical information. Learn more about registries.

Registries for Neurofibromatosis-Noonan syndrome:
NF Registry

Organizations Organizations

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

Children's Tumor Foundation (CTF)
120 Wall Street, 16th floor
New York, NY 10005-3904
Toll-free: 1-800-323-7938
Telephone: +1-212-344-6633
Fax: +1-212-747-0004
E-mail: info@ctf.org
Website: https://www.ctf.org/
Nerve Tumours UK
1st Floor
44 Coombe Lane
London, SW20 0LA United Kingdom
Toll-free: 07939 046 030 (Helpline)
Telephone: 44(0)208 439 1234
E-mail: info@nervetumours.org.uk
Website: https://nervetumours.org.uk

Do you know of an organization? We want to hear from you.

Learn More Learn More

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

In-Depth Information

The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
PubMed is a searchable database of medical literature and lists journal articles that discuss Neurofibromatosis-Noonan syndrome. Click on the link to view a sample search on this topic.

News & Events News & Events

News

2017 Million Dollar Bike Ride Pilot Grant Program
August 30, 2017
2016 Million Dollar Bike Ride Pilot Grant Program
August 15, 2016

Other Conferences

Neurofibromatoses and RASopathies: Their Management, Diagnosis, Current and Future Therapeutic Avenues
Monday, September 30, 2013 - Tuesday, October 01, 2013
Location: Radisson Blu Hotel, Cardiff, Wales
Description: This international meeting will provide a most comprehensive and up to date account of recent developments in this field. Internationally recognized experts from the UK, Europe and the USA will speak on neurofibromatoses and rasopathies. This meeting will be suitable for medical geneticists, oncologists, dermatologists, neurologists, endocrinologists, psychiatrists, molecular and cellular biologists, genetic counsellors and general practitioners.

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