We present a comprehensive clinical and molecular analysis of eight affected individuals from three unrelated families displaying features of NF1 and NFNS. [ncbi.nlm.nih.gov]

Rarely, a mutation in PTPN11 in addition to an NF1 mutation is present. We present the clinical and molecular characterization of a family displaying features of both NS and NF1, with complete absence of neurofibromas. [diva-portal.org]

• Prolonged Bleeding

  bleeding time 0003010 1%-4% of people have these symptoms Axillary freckling 0000997 Cubitus valgus Outward turned elbows 0002967 Epicanthus Eye folds Prominent eye folds [ more ] 0000286 Intellectual disability Mental deficiency Mental retardation Mental [rarediseases.info.nih.gov]

• Short Stature

  Results: A 13-year-old girl presented with short stature. [abstracts.eurospe.org]

  Case Report A 13-year-old girl presented with short stature. [jcrpe.org]

  Abstract We are reporting on a boy and his mother with neurofibromatosis and manifestations of Noonan syndrome, including short stature, ptosis, midface hypoplasia, and short neck. [ncbi.nlm.nih.gov]

• Poor Growth

  Patients with NFNS who show poor growth should be evaluated for GHD. [ncbi.nlm.nih.gov]

  Newborn infants with NS usually have feeding problems resulting in poor growth and delayed bone growth. Finally, more than 50% of all affected females and 40% of affected males have an adult height that is below the third centile 3. [centogene.com]

• Recurrent Respiratory Infections

  A 15 months-old-male child born of a third degree consanguineous marriage presented with global developmental delay and recurrent respiratory infections. His antenatal and birth history were normal. [jpgmonline.com]

• Delayed Speech Development

  speech and language development Deficiency of speech development Delayed language development Delayed speech Delayed speech acquisition Delayed speech development Impaired speech and language development Impaired speech development Language delay Language [rarediseases.info.nih.gov]

• Cafe-Au-Lait Spots

  Watson syndrome (WTSN) [MIM:193520]: A syndrome characterized by the presence of pulmonary stenosis, cafe-au-lait spots, and mental retardation. It is considered as an atypical form of neurofibromatosis. [genecards.org]

  NF1 is characterized by neurofibromas, cafe-au-lait spots, osseous lesions, and brain tumors such as gliomas. NS presents characteristic facial appearance, short stature, hypertelorism, strabismus, and low-set ears. [genome.jp]

  The child had right hemiparesis, pectus carinatum, right-sided cryptorchidism with poorly developed scrotum, and multiple pigmented macules along with multiple cafe-au-lait spots. [jpgmonline.com]

  Cafe - Au - Lait Spots, Multiple or NF-6 Victor A. [ibis-birthdefects.org]

  Signs and Symptoms: Brown skin spots that look like freckles called letigines Cafe-au-lait spots Short stature and delays in growth Cardiac involvement including congenital heart defects Characteristic facial features including widely spaced eyes, low [care.com]

• Axillary Freckling

  He has multiple café-au-lait spots and axillary freckling, relative macrocephaly, ptosis, mid-face hypoplasia, short neck and pulmonic stenosis. [ncbi.nlm.nih.gov]

  Physical examination revealed multiple café-au-lait spots, axillary freckling, relative macrocephaly suggesting NF1, and dysmorphic facial features, short and webbed neck, low posterior hairline, cubitus valgus, brachy and clinodactly, widely spaced nipples [abstracts.eurospe.org]

  […] clinical features is: cafe-au-lait macules, axillary freckling, Lisch nodules and neurofibromas. [familialcancerdatabase.nl]

  Her dermatological examination revealed bilateral axillary freckling, several hyperpigmented macules and patches between 1 and 5 cm in diameter which were consistent with café-au-lait spots. [medicaljournals.se]

  The patient’s father also had features representing both NF1 and NS such as multiple café-au-lait spots, short stature, relative macrocephaly, and axillary freckling, suggesting NF syndrome, and findings such as prominent nasolabial folds, low-set ears [jcrpe.org]

• Skin Patch

  CASE REPORT A 20-year-old female patient was admitted to the hospital with hyperpigmented skin patches that had been present since birth and tumoral formations on her skin that had recently increased in number. [medicaljournals.se]

• Short Neck

  He has multiple café-au-lait spots and axillary freckling, relative macrocephaly, ptosis, mid-face hypoplasia, short neck and pulmonic stenosis. [ncbi.nlm.nih.gov]

  With 5 months, there was a global development disorder, brachycephaly, broad forehead with prominent metopic suture, infraorbital folds, pointed chin, low-set ears, short neck, excess skin on the neck and > 6 café-au-lait spots with a diameter > 0.5 cm [thieme-connect.com]

  […] hairline * Short neck * Webbed neck * Shield chest * Sunken chest * Pectus carinatum * Cubitus valgus * Spine abnormalities * Pulmonary valve stenosis * Heart abnormalities * Left ventricular hypertrophy * Septal defects * Patent ductus arteriosus * [checkorphan.org]

  Other features shared between the two conditions include short stature, intellectual disability, lax joints, and head/neck features such as a highly arched palate, a short neck, a large forehead, and low-set ears. [forgottendiseases.org]

• Low Nasal Root

  low nasal root, dysmorphic facial features, short neck, and cubitus valgus suggesting NS. [jcrpe.org]

  […] bridge Depressed bridge of nose Flat bridge of nose Flat nasal bridge Flat, nasal bridge Flattened nasal bridge Low nasal bridge Low nasal root [ more ] 0005280 Global developmental delay 0001263 Inguinal freckling Freckles in groin region 0030052 Midface [rarediseases.info.nih.gov]

• Mid-Face Hypoplasia

  He has multiple café-au-lait spots and axillary freckling, relative macrocephaly, ptosis, mid-face hypoplasia, short neck and pulmonic stenosis. [ncbi.nlm.nih.gov]

• Excitement

  This exciting new, full-color reference provides you with the most comprehensive, authoritative, up-to-date information for diagnosing and treating children with cancer. [books.google.com]

[…] be called Noonan syndrome, pigmented villonodular synovitis, central giant cell granuloma, or cherubism, because each of these is a specific diagnostic entity sui generis and the use of such terms results in nosologic blinders that tend to limit the workup [genome.jp]

The case is the first NFNS patient reported in the literature who was diagnosed to have GHD and who received GH treatment until reaching final height. [ncbi.nlm.nih.gov]

[…] and the fifth years of treatment (15). [jcrpe.org]

Applications • Treatment of cognitive dysfunction associated with NF1 • Treatment of cognitive dysfunction associated with Noonan syndrome • Treatment of other disorders driven by hyperactivation of the Ras-MAPK pathway Advantages • Statins would represent [techtransfer.universityofcalifornia.edu]

Treatment to manage mild blood-clotting problems may be necessary. Dental and orthodontic treatment may be advised. Glue ear can be managed with an operation to insert drainage tubes (grommets). [betterhealth.vic.gov.au]

It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice . [uniprot.org]

Diagnosis - Neurofibromatosis-Noonan syndrome These home medical tests may be relevant to Neurofibromatosis-Noonan syndrome: * Colon & Rectal Cancer: Home Testing o Home Colorectal Cancer Tests o Home Fecal Occult Bleeding Tests Prognosis - Neurofibromatosis-Noonan [checkorphan.org]

Prognosis Prognosis for Noonan syndrome is largely dependent on the extent of the various medical problems, particularly the heart defects. [encyclopedia.com]

Conclusively, these studies contribute to further understanding of the RAS-MAPK syndromes and facilitate the diagnostic process and future prognosis prediction. [diva-portal.org]

To investigate the etiology of the phenotype, mutational analysis of NF1 was conducted, revealing a novel missense mutation in exon 24, p.L1390F, affecting the GAP-domain. [ncbi.nlm.nih.gov]

[…] an earlier onset or a more severe form associated with deletions,including neurofibrosarcoma (see TSG17C),Watson disease (cafe au lait spots with pulmonic stenosis) Relevant External Links for NF1 Genetic Association Database (GAD) NF1 Human Genome Epidemiology [genecards.org]

Malignancy: epidemiologically associated cancers. In: Huson SM, Hughes RAC, editors. The Neurofibromatoses: a pathogenetic and clinical overview. [familialcancerdatabase.nl]

Epidemiology It is inherited in an autosomal dominant manner. [patient.info]

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]

Epidemiology LS is a rare condition, but the exact birth prevalence is unknown. Not less than 200 patients have been reported and two reviews published [ 1, 4 ]. [ojrd.biomedcentral.com]

The final chapter covers the critical area of treatment including prospects emerging from an improved understanding of the pathophysiology of these disorders. [books.google.com]

Such observations raise the intriguing question of whether shared pathophysiological mechanisms may underlie the neuropsychological concerns that are described in NS and NF1. [jneurodevdisorders.biomedcentral.com]

Prevention - Neurofibromatosis-Noonan syndrome Not supplied. [checkorphan.org]

By blocking HMG-CoA reductase, the drug prevents overactivation of the Ras protein, which leads to deficits in long term potentiation, a mechanism of learning and memory. [techtransfer.universityofcalifornia.edu]

This may prevent apoptosis of CD4+ T cells, which is important in the development of autoimmunity (9). Our case had two coexisting autoimmune diseases – vitiligo and Hashimoto’s disease. [medicaljournals.se]

Sometimes it may leave scars, which may prevent hair growth in those areas. café-au-lait spots can occur, not unlike those seen in neurofibromatosis. [encyclopedia.com]

Early monitoring of hearing quality is important for young NS-patients in order to prevent speech abnormalities. Chest/back abnormalities are common in NS-patients in a form of pectus carinatum and/or excavatum and scoliosis. [centogene.com]