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2,544 Possible Causes for Cafe-Au-Lait Spots, Pancytopenia, Wide Space Between the First and Second Toe

  • Seckel Syndrome

    […] contracture Contractures of elbows Elbow contracture Elbow contractures [ more ] 0002987 Facial asymmetry Asymmetry of face Crooked face Unsymmetrical face [ more ] 0000324 Few cafe-au-lait[rarediseases.info.nih.gov] The 12-yr-old female had pancytopenia, which is seen occasionally in patients with Seckel syndrome and is also a feature of Fanconi anemia, a well-recognized autosomal recessive[ncbi.nlm.nih.gov] Symptoms include: intellectual disability (more than half of the patients have an IQ below 50) microcephaly sometimes pancytopenia (low blood counts) cryptorchidism low birth[en.wikipedia.org]

  • Dubowitz Syndrome

    A syndrome of prenatal growth deficiency with postnatal immature bone development, developmental asymmetry, abnormal sexual development, small triangular face, cafe-au-lait[icd10data.com] Neoplastic risk haematological malignancies and pancytopenia in 10%, childhood myelodysplasia in particular; lymphomas Inborn conditions appears to be normal or near to normal[atlasgeneticsoncology.org] 1st and 2nd toes Gap between first and second toe Increased space between first and second toes Sandal gap between first and second toes Wide space between 1st, 2nd toes[rarediseases.info.nih.gov]

  • Seckel Syndrome Type 2

    […] contracture Contractures of elbows Elbow contracture Elbow contractures [ more ] 0002987 Facial asymmetry Asymmetry of face Crooked face Unsymmetrical face [ more ] 0000324 Few cafe-au-lait[rarediseases.info.nih.gov] Underproduction of all types of blood cells (pancytopenia) occurs in some patients, as does chromosome instability.[medicinenet.com] […] syndrome may also have associated blood (hematological) disorders including deficiency of all bone marrow elements including red blood cells, white blood cells, and platelets (pancytopenia[rarediseases.org]

  • Myelocerebellar Disorder

    […] rubber bleb nevus -1122500 Diaphyseal medullary stenosis with malignant fibrous histiocytoma -1137050 Brca1 breast cancer type 1 included -1139700 Burkitt lymphoma -1140300 Cafe-au-lait[julesberman.blogspot.com] […] aidWeb Corporate donations Support aidWeb Corporate donations Support aidWeb Corporate donations Support aidWeb Corporate donations Home Informati Malattie rare Ataxia - pancytopenia[aidweb.org] Ataxia-pancytopenia and monosomy 7 syndrome.[ncbi.nlm.nih.gov]

    Missing: Wide Space Between the First and Second Toe
  • Down Syndrome

    Since the circulating blast count is often low in ML-DS and the predominant haematological picture may be of slowly progressive pancytopenia, a bone marrow aspirate is usually[doi.org] A wide space, often with a deep fissure between the first and second toes, is also common.[dx.doi.org] spacing, often with a deep plantar groove between the first and second toes.[dx.doi.org]

    Missing: Cafe-Au-Lait Spots
  • Philadelphia Chromosome Positive Chronic Myeloid Leukemia

    Subsequent detailed skin examination showed six small cafe- au -lait spots but no other evidence of neurofibromatosis.[ncbi.nlm.nih.gov] […] included thrombocytopenia (n 8), diarrhea (n 3), alanine aminotransferase elevation (n 3), aspartate aminotransferase elevation (n 2), dyspnea (n 2), neutropenia (n 2), pancytopenia[bloodjournal.org]

    Missing: Wide Space Between the First and Second Toe
  • Ring Chromosome 10

    au lait spot, digital anomalyMicrocephaly, short statureFDMental retardation, hypotrophy, hypotonic PMDDSystolic murmur46,XX,r(11); no apparent loss of chromosome material[edmcasereports.com] 1st and 2nd toes Gap between first and second toe Increased space between first and second toes Sandal gap between first and second toes Wide space between 1st, 2nd toes[rarediseases.info.nih.gov] […] clitoromegaly Cafe au lait spotMicrocephaly, weight and height below 3rd percentileMany dysplastic features, FDPMDD, hypotonic, atrophy of the brain, seizuresCardiac malformation, pancytopenia[edmcasereports.com]

  • 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] Laboratory Features Blood counts and marrow cellularity are often normal until 5 to 10 years of age, when pancytopenia develops over an extended interval.[patient-help.com] au lait spots -neurofibromas (nerve tumor) -optic glioma -frecklying of axilla or inguinal -iris hamartoma -cortical thinningof long bones, sphenoid dysplasia relatvie with[brainscape.com]

    Missing: Wide Space Between the First and Second Toe
  • 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] pancytopenia) Pancytopenia (acquired) D61.818 ICD-10-CM Diagnosis Code D61.818 Other pancytopenia 2016 2017 2018 2019 Billable/Specific Code with malformations D61.09 congenital[icd10data.com] Fanconi's anemia (FA) is an autosomal recessive disease manifested by pancytopenia resulting from bone marrow failure, variable physical anomalies and cancer susceptibility[ncbi.nlm.nih.gov]

    Missing: Wide Space Between the First and Second Toe
  • Fanconi Anemia

    Other abnormalities seen are skin pigmentation (Cafe au lait spot), small head (microcephaly), small eyes (microphthalmia), learning disabilities, failure to gain weight,[pediatriconcall.com] Death occurred at age of 16 by infection and pulmonary hemorrhage occurred in severe pancytopenia.[ncbi.nlm.nih.gov] Pancytopenia is a rare, potentially life-threatening failure of haemopoiesis characterized by aplastic anemia that is associated with a variety of congenital abnormalities (Cafe-au-lait[dx.doi.org]

    Missing: Wide Space Between the First and Second Toe

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