BACK TOTOP Browse A-ZSearchBrowse A-ZABCDEFGHIJKLMNOPQRSTUVWXYZ0-9 E-mail FormEmail ResultsName:Email address:Recipients Name:Recipients address:Message: Print-FriendlyBookmarksbookmarks-menuNoonan syndromeNoonan syndrome is a disease present from birth (congenital) that causes many parts of the body to develop abnormally. In some cases it is passed down through families (inherited). Causes Noonan syndrome is linked to defects in several genes. In general, certain proteins involved in growth and development become overactive as a result of these gene changes.Noonan syndrome is an autosomal dominant condition. This means only one parent has to pass down the nonworking gene for the child to have the syndrome. However, some cases may not be inherited.Autosomal dominantAutosomal dominant is one of many ways that a trait or disorder can be passed down through families. In an autosomal dominant disease, if you get the...ImageRead Article Now Book Mark Article Symptoms Symptoms include:Delayed puberty Down-slanting or wide-set eyes Hearing loss (varies) Hearing lossHearing loss is being partly or totally unable to hear sound in one or both ears.ImageRead Article Now Book Mark Article Low-set or abnormally shaped ears Mild intellectual disability (only in about 25% of cases) Sagging eyelids (ptosis) PtosisEyelid drooping is excess sagging of the upper eyelid. The edge of the upper eyelid may be lower than it should be (ptosis) or there may be excess b...ImageRead Article Now Book Mark Article Short stature Short statureA child who has short stature is much shorter than children who are the same age and sex. Your health care provider will go over your child's growth ...ImageRead Article Now Book Mark Article Small penis Undescended testicles Unusual chest shape (most often a sunken chest called pectus excavatum) Webbed and short-appearing neck Exams and Tests The health care provider will perform a physical exam. This may show signs of heart problems the infant had from birth. These may include pulmonary stenosis and atrial septal defect.Pulmonary stenosisPulmonic stenosis is a heart valve disorder that involves the pulmonary valve. This is the valve separating the right ventricle (one of the chambers ...ImageRead Article Now Book Mark Article Atrial septal defectAtrial septal defect (ASD) is a heart defect that is present at birth (congenital). As a baby develops in the womb, a wall (septum) forms that divide...ImageRead Article Now Book Mark Article Tests depend on the symptoms, but may include:Platelet count Blood clotting factor test ECG, chest x-ray, or echocardiogram ECGAn electrocardiogram (ECG) is a test that records the electrical activity of the heart.ImageRead Article Now Book Mark Article Chest x-rayA chest x-ray is an x-ray of the chest, lungs, heart, large arteries, ribs, and diaphragm.ImageRead Article Now Book Mark Article Hearing tests Growth hormone levels Renal ultrasoundGenetic testing can help diagnose this syndrome. Treatment There is no specific treatment. Your provider will suggest treatment to relieve or manage symptoms. Growth hormone has been used successfully to treat short height in some people with Noonan syndrome. Support Groups More information and support for people with Noonan syndrome and their families can be found at -- www.teamnoonan.org. Possible Complications Complications may include:Abnormal bleeding or bruising Buildup of fluid in tissues of body (lymphedema, cystic hygroma) Failure to thrive in infants Leukemia and other cancers Low self-esteem Infertility in males if both testes are undescended Problems with the structure of the heart Short height Social problems due to physical symptoms When to Contact a Medical Professional This condition may be found during early infant exams. A geneticist is often needed to diagnose Noonan syndrome. Prevention Couples with a family history of Noonan syndrome may want to consider genetic counseling before having children.Open ReferencesReferencesCooke DW, Divall SA, Radovick S. Normal and aberrant growth in children. In: Melmed S, Auchus RJ, Goldfine AB, Koenig RJ, Rosen CJ, eds. Williams Textbook of Endocrinology. 14th ed. Philadelphia, PA: Elsevier; 2020:chap 25.Madan-Khetarpal S, Arnold G, Ortiz D. Genetic disorders and dysmorphic conditions. In: Zitelli BJ, McIntire SC, Nowalk AJ, Garrison J, eds. Zitelli and Davis' Atlas of Pediatric Physical Diagnosis. 8th ed. Philadelphia, PA: Elsevier; 2023:chap 1.Mitchell AL. Congenital anomalies. In: Martin RJ, Fanaroff AA, Walsh MC, eds. Fanaroff and Martin's Neonatal-Perinatal Medicine. 11th ed. Philadelphia, PA: Elsevier; 2020:chap 30.AllVideoImagesTogPectus excavatum - illustration Pectus excavatum is a condition in which the breast bone (sternum) appears sunken and the chest concave. It is sometimes called funnel chest. The majority of these cases are not associated with any other condition (isolated findings). However, some genetic conditions include pectus excavatum.Pectus excavatumillustrationPectus excavatum - illustration Pectus excavatum is a condition in which the breast bone (sternum) appears sunken and the chest concave. It is sometimes called funnel chest. The majority of these cases are not associated with any other condition (isolated findings). However, some genetic conditions include pectus excavatum.Pectus excavatumillustrationRelated Information Pulmonic valve stenosis(Condition)Eyelid drooping(Condition)Intellectual disability(Condition)Hearing loss(Symptoms) Review Date: 1/6/2022 Reviewed By: Anna C. Edens Hurst, MD, MS, Associate Professor in Medical Genetics, The University of Alabama at Birmingham, Birmingham, AL. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team. The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed medical professional should be consulted for diagnosis and treatment of any and all medical conditions. Links to other sites are provided for information only -- they do not constitute endorsements of those other sites. 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Noonan syndromeNoonan syndrome is a disease present from birth (congenital) that causes many parts of the body to develop abnormally. In some cases it is passed down through families (inherited). Causes Noonan syndrome is linked to defects in several genes. In general, certain proteins involved in growth and development become overactive as a result of these gene changes.Noonan syndrome is an autosomal dominant condition. This means only one parent has to pass down the nonworking gene for the child to have the syndrome. However, some cases may not be inherited.Autosomal dominantAutosomal dominant is one of many ways that a trait or disorder can be passed down through families. In an autosomal dominant disease, if you get the...ImageRead Article Now Book Mark Article Symptoms Symptoms include:Delayed puberty Down-slanting or wide-set eyes Hearing loss (varies) Hearing lossHearing loss is being partly or totally unable to hear sound in one or both ears.ImageRead Article Now Book Mark Article Low-set or abnormally shaped ears Mild intellectual disability (only in about 25% of cases) Sagging eyelids (ptosis) PtosisEyelid drooping is excess sagging of the upper eyelid. The edge of the upper eyelid may be lower than it should be (ptosis) or there may be excess b...ImageRead Article Now Book Mark Article Short stature Short statureA child who has short stature is much shorter than children who are the same age and sex. Your health care provider will go over your child's growth ...ImageRead Article Now Book Mark Article Small penis Undescended testicles Unusual chest shape (most often a sunken chest called pectus excavatum) Webbed and short-appearing neck Exams and Tests The health care provider will perform a physical exam. This may show signs of heart problems the infant had from birth. These may include pulmonary stenosis and atrial septal defect.Pulmonary stenosisPulmonic stenosis is a heart valve disorder that involves the pulmonary valve. This is the valve separating the right ventricle (one of the chambers ...ImageRead Article Now Book Mark Article Atrial septal defectAtrial septal defect (ASD) is a heart defect that is present at birth (congenital). As a baby develops in the womb, a wall (septum) forms that divide...ImageRead Article Now Book Mark Article Tests depend on the symptoms, but may include:Platelet count Blood clotting factor test ECG, chest x-ray, or echocardiogram ECGAn electrocardiogram (ECG) is a test that records the electrical activity of the heart.ImageRead Article Now Book Mark Article Chest x-rayA chest x-ray is an x-ray of the chest, lungs, heart, large arteries, ribs, and diaphragm.ImageRead Article Now Book Mark Article Hearing tests Growth hormone levels Renal ultrasoundGenetic testing can help diagnose this syndrome. Treatment There is no specific treatment. Your provider will suggest treatment to relieve or manage symptoms. Growth hormone has been used successfully to treat short height in some people with Noonan syndrome. Support Groups More information and support for people with Noonan syndrome and their families can be found at -- www.teamnoonan.org. Possible Complications Complications may include:Abnormal bleeding or bruising Buildup of fluid in tissues of body (lymphedema, cystic hygroma) Failure to thrive in infants Leukemia and other cancers Low self-esteem Infertility in males if both testes are undescended Problems with the structure of the heart Short height Social problems due to physical symptoms When to Contact a Medical Professional This condition may be found during early infant exams. A geneticist is often needed to diagnose Noonan syndrome. Prevention Couples with a family history of Noonan syndrome may want to consider genetic counseling before having children.Open ReferencesReferencesCooke DW, Divall SA, Radovick S. Normal and aberrant growth in children. In: Melmed S, Auchus RJ, Goldfine AB, Koenig RJ, Rosen CJ, eds. Williams Textbook of Endocrinology. 14th ed. Philadelphia, PA: Elsevier; 2020:chap 25.Madan-Khetarpal S, Arnold G, Ortiz D. Genetic disorders and dysmorphic conditions. In: Zitelli BJ, McIntire SC, Nowalk AJ, Garrison J, eds. Zitelli and Davis' Atlas of Pediatric Physical Diagnosis. 8th ed. Philadelphia, PA: Elsevier; 2023:chap 1.Mitchell AL. Congenital anomalies. In: Martin RJ, Fanaroff AA, Walsh MC, eds. Fanaroff and Martin's Neonatal-Perinatal Medicine. 11th ed. Philadelphia, PA: Elsevier; 2020:chap 30.