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Neurofibromatosis-Noonan Syndrome

NFNS


Presentation

  • 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]
Heart Murmur
  • Developmental delay was noted in the son, and the mother was noted to have a heart murmur. There was a family history of café-au-lait spots, and photographs of several of these relatives showed a facial appearance suggesting Noonan syndrome.[ncbi.nlm.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
  • 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]
  • 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]
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]
Convulsions
  • An episode of fever provoked a generalised tonic clonic convulsion at the age of eight months and was followed by right hemiparesis.[jpgmonline.com]
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]

Workup

  • […] 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]
Hyperprolactinemia
  • Graves’ disease and hyperprolactinemia in a patient with Noonan syndrome neurofibromatosis type 1. Ann Endocrinol (Paris) 2004; 65: 121–124. 11. Tekin F, Ozutemiz O, Carcurgan S, Ilter T.[medicaljournals.se]

Treatment

  • 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]
  • Stay at the forefront of your field with updated treatment methods throughout, as well as an increased focus on patients with skin of color.[books.google.com]
  • 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]

Prognosis

  • 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]

Etiology

  • 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]

Epidemiology

  • […] 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]
Sex distribution
Age distribution

Pathophysiology

  • 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

  • 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]

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