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111 Possible Causes for Cafe-Au-Lait Spots, Pallor, Pulmonary Valve Stenosis

  • Neurofibromatosis Type 1

    Von Recklinghausen's disease or neurofibromatosis 1 is an autosomal dominant disorder with multiple neurofibromas and schwannomas, along with cafe au lait spots and axillary[medical-dictionary.thefreedictionary.com] Physical findings include visual loss, loss of color vision, an afferent pupillary defect, and optic nerve pallor or atrophy.[emedicine.com] It is indicated for optic nerve pallor, visual changes, proptosis, or precocious puberty.[patient.info]

  • Watson Syndrome

    From Wikidata Jump to navigation Jump to search No description defined WATSON SYNDROME; WTSN WATSON SYNDROME Pulmonic Stenosis With Cafe-Au-Lait Spots Cafe-Au-Lait Spots With[wikidata.org] […] stationary night blindness, golden yellow fundus in light that disappears in dark adaptation (Mizuo-Nakamura phenomenon) AR SAG, GRK1 #258100, #613411 OPTIC ATROPHY Optic nerve pallor[eyewiki.aao.org] VALVE STENOSIS), and some degree of INTELLECTUAL DISABILITY.[fpnotebook.com]

  • Noonan Syndrome

    In addition, LEOPARD syndrome is confused with Neurofibromatosis Type 1 due to the presence of cafe-au-lait spots.[care.com] He had no sign of pallor, icterus, cyanosis, lymphadenopathy, clubbing, splinter hemorrhage, osler nodes and pedal edema.[jiaomr.in] The most common cardiac conditions are pulmonary valve stenosis and hypertrophic cardiomyopathy.[symptoma.com]

  • Noonan Syndrome-Like Disorder with Juvenile Myelomonocytic Leukemia

    […] cardiac, cardiac malformation, developmental, genetic, neoplastic, neurological Phenotypes Aortic valve stenosis ; Autosomal dominant inheritance ; Bicuspid aortic valve ; Cafe-au-lait[mousephenotype.org] […] neurofibromatosis 1 and deletion of NF1 gene Due to stem cell defect causing deranged hematopoiesis Varied clinical presentation may include failure to thrive, malaise, fever, bleeding, pallor[pathologyoutlines.com] valve stenosis (heart valve disorder in which blood does not flow through the heart properly) Hypertrophic cardiomyopathy (thickening of the heart muscle) Atrial septal defect[stjude.org]

  • LEOPARD Syndrome

    au lait spots.[ncbi.nlm.nih.gov] […] throughout the body since birth, hypertelorism, triangular face, low set ears, web-neck [Figure 1] , kyphoscoliosis in the thoracic area with concavity toward the left side and pallor[ijpd.in] Hypertrophic cardiomyopathy (71%) was diagnosed more often than pulmonary valve stenosis (35%).[ncbi.nlm.nih.gov]

  • Disproportionate Short Stature - Ptosis - Valvular Heart Lesions

    A syndrome of prenatal growth deficiency with postnatal immature bone development, developmental asymmetry, abnormal sexual development, small triangular face, cafe-au-lait[icd10data.com] […] deviations below the mean for age with no identified pathology, normal growth velocity and bone age Laboratory testing to rule out pathology Chronic diseases Anemia Fatigue, pallor[aafp.org] valve stenosis valvular heart disease thick collapsed mitral valve Teeth: crowded dentition Clinical features from OMIM: 126190 Genetic tests related to Disproportionate[malacards.org]

  • Jaffe-Campanacci Syndrome

    Synopsis multiple cafe-au-lait spots multiple non-ossifying fibromata of the bones[humpath.com] Persistent hyaloid vessels, lens dislocation, iris dysplasia, aniridia, coloboma, microphthalmia, ocular calcifications, and optic disc pallor have also been reported.[e-sciencecentral.org] […] of the pulmonary valve and artery.[docslide.net]

  • Absent Thumb - Short Stature - Immunodeficiency Syndrome

    spots Multiple neurofibromas Lisch nodules Optic pathway glioma NF1 - Neurofibromatosis 1 Neurofibromin protein - Chromosome 17, AD Bilateral acoustic neuromas Multiple cafe-au-lait[quizlet.com] valve stenosis), and some degree of intellectual disability.[icd10data.com] There was easy bruising and pallor with pancytopenia (Hgb 6.9 gm/dL; MCV 104 fL; WBC 2.1 K/µl; platelets 10 K/µl; fetal hemoglobin 7.3%). She was transfusion-dependent.[journals.plos.org]

  • Patterson Pseudoleprechaunism Syndrome

    […] group G - cafe au lait spots Fanconi's anemia -- Complementation group I - cafe au lait spots Fanconi's anemia -- Complementation group J - cafe au lait spots Fanconi's anemia[eczema.medicclub.info] […] skin Ectodermal dysplasia Hypopigmentation of the skin Hypodontia Immunodeficiency Abnormality of skin pigmentation Retinal detachment Papule Malabsorption Nail dystrophy Pallor[mendelian.co] […] primary Pulmonary sequestration Pulmonary supravalvular stenosis Pulmonary surfactant protein B, deficiency of Pulmonary valve stenosis Pulmonary valves agenesis Pulmonary[bioreference.net]

  • Ring Chromosome 11 Syndrome

    Ring chromosome 11 and cafe-au-lait spots . American Journal of Medical Genetics 30 911–916. 10.1002/ajmg.1320300406 [ PubMed ] [ CrossRef ] [ Google Scholar ] 9.[ncbi.nlm.nih.gov] Case Report A 71 years elderly was presented with a history of weakness/fatigability/exertional breathlessness/fever/jaundice/progressive pallor/wet purpura/petechial spots[cancerjournal.net] valve stenosis 13 (2) 1 (1) Atrial septal defect 8 (1) 2 (1) 2 (2) 4 (4) 7 (3) Atrioventricular septal defect 5 (1) 1 1 Double outlet right ventricle 4 (1) 3 (2) 1 (1) 7[jpccs.jp]

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