Presentation
Speech therapy if speech and articulation issues present Physical therapy and occupational therapy for gross- and fine-motor delays Hypotonia and motor difficulties often impact handwriting. [en.wikipedia.org]
Entire Body System
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Disability
Other features All of the following: intellectual disability, cryptorchidism, and lymphatic vessel dysplasia One of the following: intellectual disability, cryptorchidism, or lymphatic vessel dysplasia Table 2. [aafp.org]
[…] disorder characterized by short stature, webbed neck, ptosis, skeletal malformations, hypertelorism, hormonal imbalance, CRYPTORCHIDISM, multiple cardiac abnormalities (most commonly including PULMONARY VALVE STENOSIS), and some degree of INTELLECTUAL DISABILITY [fpnotebook.com]
Some affected individuals may also exhibit mild intellectual disability, speech difficulties, and/or, in some cases, additional physical abnormalities. NSML is an autosomal dominant genetic disorder. [rarediseases.org]
Most children diagnosed with Noonan syndrome have normal intelligence, but a few have special educational needs, and some have intellectual disability. Some affected individuals have vision or hearing problems. [ghr.nlm.nih.gov]
[…] diagnosis [ edit ] Turner syndrome, a different disorder often confused with NS because of several physical features that they share Fetal alcohol syndrome, another disorder sometimes confused with NS because of some common facial features and intellectual disability [en.wikipedia.org]
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Pulmonary Valve Stenosis
VALVE STENOSIS), and some degree of INTELLECTUAL DISABILITY. [fpnotebook.com]
Cardiac Pulmonary valve stenosis, hypertrophic cardiomyopathy, and/or electrocardiographic results typical of Noonan syndrome Other defect 3. Height 3rd percentile 10th percentile 4. Chest wall Pectus carinatum/excavatum Broad thorax 5. [aafp.org]
The most common heart defect in these individuals is a narrowing of the valve that controls blood flow from the heart to the lungs (pulmonary valve stenosis). Some have hypertrophic cardiomyopathy, which enlarges and weakens the heart muscle. [ghr.nlm.nih.gov]
valve stenosis. [1] The breast bone may be either protruding or be sunk while the spine may be abnormally curved. [1] Intelligence is often normal. [1] Complications of NS may include leukemia. [1] A number of genetic mutations can result in Noonan syndrome [en.wikipedia.org]
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Lymphedema
[…] to lymphedema clinic (contact National Lymphedema Network; ) Metabolic Failure to thrive Inadequate weight gain Referral as indicated Dietary assessment and nutrition intervention Neurologic Arnold-Chiari malformation, craniosynostosis, headaches, hydrocephalus [aafp.org]
Infants with Noonan syndrome may be born with puffy hands and feet caused by a buildup of fluid ( lymphedema ), which can go away on its own. Older individuals can also develop lymphedema, usually in the ankles and lower legs. [ghr.nlm.nih.gov]
[…] difficulties Intestinal malrotation Need for a feeding tube Low gut motility Gastroparesis (delayed gastric emptying) Genitourinary system [ edit ] Cryptorchidism (undescended testicles) Lymphatic system [ edit ] Posterior cervical hygroma (webbed neck) Lymphedema [en.wikipedia.org]
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Infertility
Suspect Noonan Syndrome Noonan syndrome should be considered in anyone who presents with two or more of the following: Characteristic facial features ( Figures 1 through 4 ) Developmental delay and/or learning disability Heart defect Pubertal delay and/or infertility [aafp.org]
Most males with Noonan syndrome have undescended testes (cryptorchidism), which may contribute to infertility (inability to father a child) later in life. [ghr.nlm.nih.gov]
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Surgical Procedure
The surgical procedures performed will depend upon the location and severity of the anatomical abnormalities and their associated symptoms. Other abnormalities potentially associated with NSML may also be corrected surgically. [rarediseases.org]
Cardiovascular
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Heart Disease
Associated noncardiac malformations in children with congenital heart disease. Midwest Soc Pediatr Res. 1963;63:468–70. Noonan, JA (1968). "Hypertelorism with Turner phenotype. A new syndrome with associated congenital heart disease". Am. J. Dis. [en.wikipedia.org]
Liver, Gall & Pancreas
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Hepatosplenomegaly
A study shows this disease is also associated with hepatosplenomegaly and with renal anomalies including malrotation and a solitary kidney. [en.wikipedia.org]
Skin
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Pterygium Colli
Some affected individuals may also exhibit additional abnormalities including crossing of the eyes (strabismus) and/or mild webbing of the neck (pterygium colli). Many individuals with NSML also have genital abnormalities. [rarediseases.org]
Ears
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Low Set Ears
It is characterized by short stature, webbed neck, hypertelorism, low-set ears, deafness, and thrombocytopenia or abnormal platelet function. [fpnotebook.com]
Eyes
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Strabismus
Micrognathia Dysmorphic facial features 6, 7 See Figures 1 through 4 Ears 8 Hearing loss Eyes 2, 9 Anterior segment problems (prominent corneal nerves, cataract, anterior stromal dystrophy) Nystagmus Ptosis, hypertelorism, and epicanthal folds Refractive error Strabismus [aafp.org]
[…] shape Broad forehead Short neck, webbed neck Eyes [ edit ] Hypertelorism (widely set eyes) (95%) Epicanthal folds (extra fold of skin at the inner corner of the eye) Ptosis (drooping of the eyelids) Proptosis (bulging eyes) Refractive visual errors Strabismus [en.wikipedia.org]
Fetus
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Hydrops Fetalis
[…] resonance imaging of the brain) Ocular Dysmorphic findings, vision problems Detailed eye examination in infancy and/or at diagnosis — Eye reevaluation as indicated if abnormal or every two years thereafter Pregnancy Congenital heart defects, effusion, hydrops [aafp.org]
Neurologic
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Seizure
[…] clinic (contact National Lymphedema Network; ) Metabolic Failure to thrive Inadequate weight gain Referral as indicated Dietary assessment and nutrition intervention Neurologic Arnold-Chiari malformation, craniosynostosis, headaches, hydrocephalus, seizures [aafp.org]
Seizures Physical appearance [ edit ] Stature [ edit ] For short stature, growth hormone is sometimes combined with IGF-1 (or as an alternative, IGF-1 as a stand-alone) can be used to achieve an increased height/final height quicker. [9] Head [ edit ] [en.wikipedia.org]
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Confusion
confused with NS because of some common facial features and intellectual disability [21] Other RASopathies, particularly: Costello syndrome Legius syndrome Noonan Syndrome with Multiple Lentigines, as known as LEOPARD syndrome, a related disorder caused [en.wikipedia.org]
Workup
Serum
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Karyotype Abnormal
The phenotype bears similarities to that of TURNER SYNDROME that occurs only in females and has its basis in a 45, X karyotype abnormality. Noonan syndrome occurs in both males and females with a normal karyotype (46,XX and 46,XY). [fpnotebook.com]
Treatment
Standard Therapies Treatment The treatment of NSML is directed toward the specific symptoms that are apparent in each individual. Treatment may require the coordinated efforts of a team of specialists. [rarediseases.org]
Genetic mutation ( autosomal dominant ) [1] Diagnostic method Suspected based on symptoms, confirmed with genetic testing [4] [2] Differential diagnosis Cardiofaciocutaneous syndrome, Turner syndrome, Costello syndrome, neurofibromatosis type 1 [2] [3] Treatment [en.wikipedia.org]
Prognosis
Suspected based on symptoms, confirmed with genetic testing [4] [2] Differential diagnosis Cardiofaciocutaneous syndrome, Turner syndrome, Costello syndrome, neurofibromatosis type 1 [2] [3] Treatment Based on the symptoms [3] Medication Growth hormone [3] Prognosis [en.wikipedia.org]
Epidemiology
Age-appropriate guidelines for the management of Noonan syndrome are available. 1 Epidemiology Noonan syndrome is characterized by marked variable expressivity, which makes it difficult to identify mildly affected individuals. [aafp.org]
Prevention
Appropriate use of hearing aids, other supportive techniques, and speech therapy may help to prevent, improve, and/or correct some speech problems that may result from such hearing impairment. [rarediseases.org]