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2,523 Possible Causes for High Pitched Voice, Pancytopenia, Wide Space Between the First and Second Toe

  • Dubowitz Syndrome

    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] Speech delays, an unusually soft, high-pitched voice, submucous cleft palate, and velopharyngeal insufficiency were noted in childhood.[ncbi.nlm.nih.gov]

  • Seckel Syndrome

    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] 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] She also displayed high-pitched voice. The age of menarche was 15 years. She had regular menstrual cycles.[termedia.pl]

  • Seckel Syndrome Type 2

    Underproduction of all types of blood cells (pancytopenia) occurs in some patients, as does chromosome instability.[medicinenet.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] […] 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]

  • 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.[doi.org]

    Missing: High Pitched Voice
  • Myelodysplasia

    A 41-year-old patient manifested pancytopenia with macrocytosis following pesticide exposure. She was later found to have myelodysplasia with trisomy 15.[ncbi.nlm.nih.gov] […] phenotypes – typically presents as juvenile myelomonocytic leukemia BLM Potentially associated diseases/syndromes – Bloom syndrome, short stature, immunodeficiency, microcephaly, high-pitched[arupconsult.com] Hudspeth and John Lazarchick, Pancytopenia with myelodysplasia due to copper deficiency, Pediatric Blood & Cancer, 51, 5, (693-695), (2008). George J.[doi.org]

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

    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] Bloom syndrome listen (… SIN-drome) A rare, inherited disorder marked by height that is shorter than average, a narrow face with redness and a rash, a high-pitched voice,[cancer.gov] People with Bloom syndrome are much smaller than average, and often have a high-pitched voice and characteristic facial features including a long, narrow face; small lower[hon.ch]

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

    Lymphedema Bilateral camptodactyly Leukodystrophy Bipolar affective disorder Spina bifida Primary amenorrhea Hand polydactyly Ventricular hypertrophy Abnormal palate morphology Pancytopenia[mendelian.co] 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] Wide space between first and second toes Wide-spaced big toe Widely spaced 1st-2nd toes Widely spaced first and second toes Widened gap 1st-2nd toes Widened gap first and[rarediseases.info.nih.gov]

  • Laron Syndrome

    Low IGF-1 levels are thought to explain the mild pancytopenia that is observed in patients, due to its potential role in erythropoiesis.[symptoma.com] Clinically, all three presented with the typical craniofacies of Laron syndrome, consisting of prominent forehead and hypoplastic nasal bridge, high-pitched voice, short stature[ncbi.nlm.nih.gov] They had characteristic features and biochemical findings including prominent forehead; depressed nasal bridge; central adiposity; high-pitched voices; micropenis; high GH[ncbi.nlm.nih.gov]

    Missing: Wide Space Between the First and Second Toe
  • Microcephalic Osteodysplastic Primordial Dwarfism Type II

    […] 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] Intrauterine development Intrauterine growth retardation Neurologic Abnormality Developmental delay (mild-severe) Infarcts Moyamoya disease Multiple aneurysms Performance High-pitched[datagenno.com] Short stature Small head size Abnormal hip development (hip dysplasia) Spine curvature (scoliosis) Thinning of arm and leg bones high pitched voice Indentifiable facial features[littlepeopleuk.org]

    Missing: Wide Space Between the First and Second Toe
  • Pfeiffer-Palm-Teller Syndrome

    Premature birth Laryngeal web Craniofacial osteosclerosis Death in infancy Microcornea Talipes Rhizomelia High iliac wings Toe syndactyly Osteopathia striata Hip dislocation Pancytopenia[mendelian.co] Voice Annotation Sufficiency: ?[monarchinitiative.org] PNLIPD OMIM:602596 Pancreatic Lymphoma, Familial OMIM:167800 Pancreatitis, Hereditary; PCTT OMIM:260480 Pancreatitis, Sclerosing Cholangitis, and Sicca Complex OMIM:167850 Pancytopenia[informatics.jax.org]

    Missing: Wide Space Between the First and Second Toe

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