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57 Possible Causes for Coarse, Low-Pitched Voice, Pancytopenia, Wide Space Between the First and Second Toe

  • Dubowitz Syndrome

    […] muscle tone [ more ] 0001290 High forehead 0000348 High pitched voice 0001620 Hyperactivity More active than typical 0000752 Hypermetropia Farsightedness Long-sightedness[rarediseases.info.nih.gov] 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] They include pancytopenia (low counts of red and white blood cells and platelets) and thumb abnormalities (missing or duplicated thumbs, for example).[forgottendiseases.org] 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]

    Missing: Coarse
  • Weaver Syndrome

    […] all of the following features: Other features may include loose skin, thin deep-set nails, thin hair, short ribs, limited elbow and knee extension, camptodactyly, and a coarse[en.wikipedia.org] Main symptoms of the Weaver syndrome are increased birth weight, early overgrowth, macrocephaly, accelerated osseous maturation, typical facies, hoarse, low pitched voice,[ncbi.nlm.nih.gov] […] frequently in individuals with systemic juvenile idiopathic arthritis (SJIA) and in those with adult-onset Still disease. [1] Macrophage activation syndrome is characterized by pancytopenia[emedicine.medscape.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]

  • Seckel Syndrome

    CHILD syndrome 知念 安紹 96 52 limb, upper hypoplasia-Mullerian duct defects 知念 安紹 98 53 limbs, supernumerary 知念 安紹 99 54 lip, cheilitis glandularis 知念 安紹 100 55 lipodystrophy-coarse[nippon-rinsho.co.jp] 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] 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]

    Missing: Low-Pitched Voice
  • Gorlin-Chaudhry-Moss Syndrome

    GCM syndrome symptoms include: Feet and metacarpal bones abnormalities Cognitive and hearing impairment Coarse hair and low hairline Underdeveloped mid-face Flattened forehead[patientworthy.com] […] is deep, hoarse and low pitch, pain and shortening of fingers of hand and feet, fingers appear short and stubby (pseudoclubbing).[vivavoceoralmedicineradiology.com] Myhre - See Myhre syndrome Growth retardation alopecia pseudoanodontia optic Growth retardation hydrocephaly lung hypoplasia Growth retardation prenatal with progressive pancytopenia[herenciageneticayenfermedad.blogspot.com] […] which patients present with a stocky body build, normal intelligence, coronal craniosynostosis, facial dysmorphism (brachy/turricephaly, low anterior and posterior hairline, coarse[rarediseases.info.nih.gov]

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

    […] facial features Coarse facial appearance 0000280 Generalized hirsutism Excessive hairiness over body 0002230 High anterior hairline High frontal hairline 0009890 Inguinal[rarediseases.info.nih.gov] Their ears were low-set and malformed. The older sister additionally had a high-pitched voice and eczema on the face and limbs.[ncbi.nlm.nih.gov] A girl with combined cellular immunodeficiency, pancytopenia, malformations, deletion 11q23-qter and trisomy 8q24.3-qter. Am J Med Genet 2002, 108: 322-326. H.[eris.ee] Brachymorphism-onychodysplasia-dysphalangism (BOD) is a very rare malformation syndrome that is characterized by short stature, hypoplastic fifth digits with tiny dysplastic nails, facial dysmorphism with coarse[ebi.ac.uk]

    Missing: Wide Space Between the First and Second Toe
  • Adactyly of Foot

    Note that the word coarse may be considered pejorative by some.[quizlet.com] Individuals with CdLS tend to vocalize with a low-pitched cry and speak with a monotone voice 140 , 179 regardless of cognitive level.[nature.com] […] facioauriculovertibral sequence, 139 faciogenitopopliteal syndrome, 389 Fairbank disease, 17 familial de Lange syndrome, 364 glomangiomatosis, 44 Fanconi anemia, 121, 127, 321 Fanconi pancytopenia[docplayer.net] Hypoplasia of the phalanges of the hand Occipital meningocele Absent testis Decreased calvarial ossification Hypoplastic sacrum Long ear Aplasia/hypoplasia of the femur Coarse[mendelian.co]

  • Melhem-Fahl Syndrome

    Greig cephalopolysyndactyly syndrome Groll Hirschowitz Syndrome Growth Deficiency and Mental Retardation with Facial Dysmorphism Growth Retardation, Developmental Delay, Coarse[rgd.mcw.edu] voice.[en.wikipedia.org] […] fusion anomalies Microcephaly chorioretinopathy recessive form Microcephaly cleft palate autosomal dominant Microcephaly deafness syndrome Microcephaly developmental delay pancytopenia[statemaster.com] Melkersson-Rosenthal syndrome MEND SYNDROME Mengel Konigsmark Syndrome Menkes disease Mental Retardation, Buenos Aires Type Mental Retardation, Microcephaly, Epilepsy, and Coarse[rgd.mcw.edu]

    Missing: Wide Space Between the First and Second Toe
  • Atelosteogenesis Type 2

    Note dysplasia, scaphocephalic macrocephaly, coarse facial features, depressed nasal bridge, broad nasal tip, thick lips, short neck, protuberant abdomen, inguinal hernia,[thehealthscience.com] […] vision, see Arts syndrome ataxia-deafness-optic atrophy, lethal, see Arts syndrome ataxia-hypogonadism-choroidal dystrophy syndrome, see Boucher-Neuhäuser syndrome ataxia-pancytopenia[mygenomics.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] […] decrease in interpedicular distance Irregular metaphysis Squared ilia Horizontal acetabular margins Progressive decrease in interpedicular distance 40 Mucopolysachharidosis Coarse[slideplayer.com]

    Missing: Low-Pitched Voice
  • Absent Thumb - Short Stature - Immunodeficiency Syndrome

    […] positive: s. aureus, serratia, klebsiella, aspergillosis, SPACE orgs Phagocytic cell defect- Jobs disesase-defect in chemotaxis of neutrophils -dermatitis -skin abscess -coarse[brainscape.com] Widely spaced nipples, reduced carrying angle at the elbow, and sparse body hair An IQ of 25 to 70, low nasal bridge, protruding tongue, and flat, low-set ears High-pitched[stuvia.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] […] difficulties -Cherry-red macula Tay-Sachs Disease B-hexosaminidase A deficiency AR Infancy anemia thrombocytopenia HSM Gaucher Disease Glucocerebrosidase deficiency 6mo-2yr Coarse[quizlet.com]

    Missing: Wide Space Between the First and Second Toe
  • Lytic Bone Lesion

    […] facial features Coarse facial appearance 0000280 Dolichocephaly Long, narrow head Tall and narrow skull [ more ] 0000268 Downturned corners of mouth Downturned corners of[rarediseases.info.nih.gov] Miscellaneous cfinieal findings included unusual facial features (1, 12, 14), low pitched voice (14) and extensive bronehieetasis (5).[docslide.net] […] vision, see Arts syndrome ataxia-deafness-optic atrophy, lethal, see Arts syndrome ataxia-hypogonadism-choroidal dystrophy syndrome, see Boucher-Neuhäuser syndrome ataxia-pancytopenia[mygenomics.com] (HLA) B12 has been shown in one study of this syndrome. [39] Tanaka et al reported pulsed steroid therapy with parenteral iron having been able to improve the anemia and pancytopenia[emedicine.medscape.com]

    Missing: Wide Space Between the First and Second Toe

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