Presentation
Hypertrophic cardiomyopathy, found in 20%-30% of individuals, may be present at birth or develop in infancy or childhood. [ncbi.nlm.nih.gov]
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
- Lymphedema
[…] to lymphedema clinic (contact National Lymphedema Network; http://www.lymphnet.org/ ) Metabolic Failure to thrive Inadequate weight gain Referral as indicated Dietary assessment and nutrition intervention Neurologic Arnold-Chiari malformation, craniosynostosis [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]
- Weight Gain
Although PTPN11 mutation, greater gestational age, and cardiac surgery also had a negative effect on weight gain and length in the study, the investigators found that at age 1 year, children with feeding problems weighed, on average, 290 g less than children [emedicine.medscape.com]
gain Referral as indicated Dietary assessment and nutrition intervention Neurologic Arnold-Chiari malformation, craniosynostosis, headaches, hydrocephalus, seizures Referral as indicated Physician should have a low threshold for investigating neurologic [aafp.org]
Gastrointestinal
- Vomiting
[…] problems (prominent corneal nerves, cataract, anterior stromal dystrophy) Nystagmus Ptosis, hypertelorism, and epicanthal folds Refractive error Strabismus Gastrointestinal 3, 4 Feeding difficulties (poor sucking function, prolonged feeding time, recurrent vomiting [aafp.org]
Gastrointestinal tract [ edit ] Failure to thrive from infancy to puberty (75%) Decreased appetite Digestive problems Frequent or forceful vomiting Swallowing difficulties Intestinal malrotation Need for a feeding tube Low gut motility Gastroparesis [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]
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]