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]

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]

[…] 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]

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]

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]

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]

A study shows this disease is also associated with hepatosplenomegaly and with renal anomalies including malrotation and a solitary kidney. [en.wikipedia.org]

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]

It is characterized by short stature, webbed neck, hypertelorism, low-set ears, deafness, and thrombocytopenia or abnormal platelet function. [fpnotebook.com]

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]

[…] 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]

[…] 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]

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]

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]