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249 Possible Causes for Cafe-Au-Lait Spots, Failure to Thrive, Pallor

  • Russell-Silver Syndrome

    […] extremely short stature and body and facial asymmetry, excessive sweating, a small triangular face which makes the skull look large by comparison, inward curved fingers, cafe-au-lait[medical-dictionary.thefreedictionary.com] Nocturnal sweating was the commonest symptom (23.96%), followed by irritability (11.46%), tantrums (7.29%), pallor and shakiness (3.13%).[ncbi.nlm.nih.gov] Russell-Silver syndrome is characterized by asymmetric intrauterine growth retardation, postnatal failure to thrive, distinct facial features, limb asymmetry, excessive sweating[ncbi.nlm.nih.gov]

  • Johanson-Blizzard Syndrome

    […] in the wall separating the top two chambers of the heart Hole in heart wall separating two upper heart chambers [ more ] 0001631 Autosomal recessive inheritance 0000007 Cafe-au-lait[rarediseases.info.nih.gov] On physical examination, the child was lethargic with poor muscle tone and had severe pallor.[tropicalgastro.com] The history started when he was 2-mo old with recurrent attacks of pallor and edema in the feet and hands.[wjgnet.com]

  • Bloom Syndrome

    Bloom syndrome is a rare autosomal recessive disorder characterized by short stature, brachydactyly, malar hypoplasia and facial telangiectasia, erythema and cafe au lait[radiopaedia.org] […] for signs/symptoms incl hematuria & a painless abdominal mass Every 3 mos from time of diagnosis to age 8 yrs Leukemia Screening & family education on signs/symptoms incl pallor[ncbi.nlm.nih.gov] […] to thrive in infancy Very short stature Very small head Skin telangiectasias (spidery veins visible near the surface of the skin) Café au lait spots on the skin (see photo[forgottendiseases.org]

  • 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] Typical signs of JMML include: pallor (appearing pale), fever, infection, skin bleeding, and cough.[jmmlfoundation.org]

  • Congenital Aplastic Anemia

    […] anemia Cause is chromosome breakage and defective repair Autosome recessive, few X-linked recessive Pancytopenia is seen first decade of life Congenital abnormalities – cafe-au-lait[pediatriceducation.org] Low counts of red blood cells bring about anemia and cause fatigue, weakness and pallor.[symptoma.com] Fred Ferri’s popular "5 books in 1" format provides quick guidance on menorrhagia, Failure to Thrive (FTT), Cogan’s syndrome, and much more.[books.google.com]

  • Tuberous Sclerosis

    Additional skin lesions may also develop, including cafe-au-lait spots; fibromas (benign, fibrous nodules) arising around or beneath the nails; or shagreen patches (rough,[flybase.org] The presence of significant symptoms such as hypertension or failure to thrive, as well as the absence of associated AMLs, strongly suggest the latter diagnosis.[emedicine.medscape.com] Differentials to exclude: Neurofibromatosis type 1: Cafe au lait spots, neurofibromas, axillary freckling, lisch nodules.[ptpaces.wordpress.com]

  • 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] Infants often show failure to thrive and older children may have difficulty in school.[medical-dictionary.thefreedictionary.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] […] to thrive, short stature, feeding difficulties, sternal deformity, renal malformation, pubertal delay, cryptorchidism, developmental or behavioral problems, vision problems[ncbi.nlm.nih.gov]

  • 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] Fred Ferri’s popular "5 books in 1" format provides quick guidance on menorrhagia, Failure to Thrive (FTT), Cogan’s syndrome, and much more.[books.google.de] 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]

  • Combined Exocrine Pancreatic Insufficiency

    […] in the wall separating the top two chambers of the heart Hole in heart wall separating two upper heart chambers [ more ] 0001631 Autosomal recessive inheritance 0000007 Cafe-au-lait[rarediseases.info.nih.gov] On physical examination, the child was lethargic with poor muscle tone and had severe pallor.[tropicalgastro.com] The history started when he was 2-mo old with recurrent attacks of pallor and edema in the feet and hands.[wjgnet.com]

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