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Noonan Syndrome 3

Noonan Syndrome Type 3


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]
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]
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]
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]
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]
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]
Hepatosplenomegaly
  • A study shows this disease is also associated with hepatosplenomegaly and with renal anomalies including malrotation and a solitary kidney.[en.wikipedia.org]
Sparse Fine Hair
  • Costello syndrome: Characterized by growth problems, developmental delay or intellectual disability, coarse facial features, curly or sparse fine hair, soft skin with deep palmar and plantar creases, papillomata of the face and perianal region, diffuse[aafp.org]
Epicanthal Folds
  • folds Refractive error Strabismus Gastrointestinal 3, 4 Feeding difficulties (poor sucking function, prolonged feeding time, recurrent vomiting and reflux) Genitourinary 2, 8 Cryptorchidism Female fertility is normal Males can have fertility issues ([aafp.org]
  • folds (extra fold of skin at the inner corner of the eye) Ptosis (drooping of the eyelids) Proptosis (bulging eyes) Refractive visual errors Strabismus (inward or outward turning of the eyes) Nystagmus (jerking movement of the eyes) Nose [ edit ] Small[en.wikipedia.org]
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]
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]
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]
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]

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]
Sex distribution
Age distribution

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]

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