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

  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]

  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]

• 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 development Impaired speech and language development Impaired speech development Language delay Language delayed Language development deficit Late-onset speech development Poor language development Speech and language delay Speech and language [rarediseases.info.nih.gov]

• Decrease in Height

  […] body height Small stature [ more ] 0004322 Specific learning disability 0001328 Webbed neck Neck webbing 0000465 30%-79% of people have these symptoms Abnormality of the lymphatic system 0100763 Abnormality of the thorax Abnormality of the chest 0000765 [rarediseases.info.nih.gov]

• Cafe-Au-Lait Spots

  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]

  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]

  […] fissures Downward slanting of the opening between the eyelids 0000494 Hypertelorism Wide-set eyes Widely spaced eyes [ more ] 0000316 Hypertrophic cardiomyopathy Enlarged and thickened heart muscle 0001639 Low-set, posteriorly rotated ears 0000368 Multiple cafe-au-lait [rarediseases.info.nih.gov]

• 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]

  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]

  freckling 0000997 Cubitus valgus Outward turned elbows 0002967 Epicanthus Eye folds Prominent eye folds [ more ] 0000286 Intellectual disability Mental deficiency Mental retardation Mental retardation, nonspecific Mental-retardation [ more ] 0001249 [rarediseases.info.nih.gov]

• 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]

  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 * Branch stenosis of [checkorphan.org]

  neck Decreased length of neck 0000470 Superior pectus carinatum 0000917 Showing of 44 Last updated: 3/1/2019 Making a diagnosis for a genetic or rare disease can often be challenging. [rarediseases.info.nih.gov]

• Low Nasal Root

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

  nasal root [ more ] 0005280 Global developmental delay 0001263 Inguinal freckling Freckles in groin region 0030052 Midface retrusion Decreased size of midface Midface deficiency Underdevelopment of midface [ more ] 0011800 Muscle weakness Muscular weakness [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]

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]

The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]

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]

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

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

In light of a studied Greek family, a new theory for etiological pathogenesis of NFNS is suggested. [ncbi.nlm.nih.gov]

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. [diva-portal.org]

[…] 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]

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]

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]

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]