Here we present a nuclear Greek family with four members. In this family, the father presents typical NF1, the mother suffers from generalized epilepsy, while their two male children present NFNS manifestations. [iv.iiarjournals.org]

NS presents characteristic facial appearance, short stature, hypertelorism, strabismus, and low-set ears. It has been reported that mutations in the NF1 gene are associated with NFNS. [genome.jp]

Although being monogenically inherited, the clinical presentation is highly variable, even within a family. [medicover-genetics.com]

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]

We present a case of NFNS due to the heterozygous deletion of exons 1–58 of the NF1 gene on chromosome 17 in a 15-month-old boy. [bmcpediatr.biomedcentral.com]

• Short Stature

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

  Hallmarks of NS include short stature, mental retardation (25%), characteristic facial appearance, webbing of neck and cryptorchidism (28). [iv.iiarjournals.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]

  NS presents characteristic facial appearance, short stature, hypertelorism, strabismus, and low-set ears. It has been reported that mutations in the NF1 gene are associated with NFNS. [genome.jp]

• Ejection Murmur

  We found the patient grade 2–3 systolic ejection murmurs on the left second intercostal, below the margin of sternum and bilateral cryptorchidism, without hepatosplenomegaly. [bmcpediatr.biomedcentral.com]

• Large Hand

  Kehrer-Sawatzki H et al. [10] discussed the genotype-phenotype relationships in patients with large NF1 deletions, as known as Neurofibromatosis type 1 microdeletion syndrome, and the authors suggested that overgrowth or tall-for-age stature, large hands [bmcpediatr.biomedcentral.com]

• Cafe-Au-Lait Spots

  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]

  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]

  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]

• 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]

• Hypoplastic Nails

  The diagnosis was based on the hallmark presence of hypoplastic nails in both boys and the fact that their epileptic mother had received hydantoin treatment during both pregnancies. [iv.iiarjournals.org]

• 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]

• Broad Nasal Bridge

  NS presents characteristic facial appearance, short stature, hypertelorism, strabismus, broad nasal bridge, low-set ears and low posterior hairline (4). NS is characterized by large genetic heterogeneity. [iv.iiarjournals.org]

[…] 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]

The father clearly presents NF1 and transmitted the mutant NF1 gene to his sons, while the epileptic mother was under hydantoin treatment throughout both pregnancies. [iv.iiarjournals.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]

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]

The RAS/MAPK cascade is involved in the pathophysiology of both NF1 and NS types. As previously mentioned, NF1 regulates RAS in the initial stage of the RAS/MAPK cascade (18). [iv.iiarjournals.org]

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]