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18 Possible Causes for Mental Retardation, Pancytopenia, 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] Abstract Although there is considerable variability, most individuals with Down syndrome have mental retardation and speech and language deficits, particularly in language[oadoi.org] A wide space, often with a deep fissure between the first and second toes, is also common.[dx.doi.org]

  • 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] , short stature, microcephaly, mild mental retardation with behavior problems, eczema, and unusual and distinctive faci DUBOWITZ SYNDROME edit English Dubowitz syndrome Human[wikidata.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

    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] It is extremely rare and typically causes dwarfism, mental retardation, intrauterine growth retardation and microcephaly.[symptoma.com]

  • Seckel Syndrome Type 2

    Underproduction of all types of blood cells (pancytopenia) occurs in some patients, as does chromosome instability.[medicinenet.com] […] deficiency Mental retardation Mental retardation, nonspecific Mental-retardation [ more ] 0001249 Intrauterine growth retardation Prenatal growth deficiency Prenatal growth[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]

  • Ring Chromosome 10

    […] clitoromegaly Cafe au lait spotMicrocephaly, weight and height below 3rd percentileMany dysplastic features, FDPMDD, hypotonic, atrophy of the brain, seizuresCardiac malformation, pancytopenia[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] […] deficiency Mental retardation Mental retardation, nonspecific Mental-retardation [ more ] 0001249 Intrauterine growth retardation Prenatal growth deficiency Prenatal growth[rarediseases.info.nih.gov]

  • Cutis Laxa

    During his early infancy, he had history of hospitalization for epistaxis, acute bronchopneumonia and pancytopenia.[ispub.com] While the patients with GORAB mutations have severe osteopenia, the patients with PYCR1 mutations have severe mental retardation.[ncbi.nlm.nih.gov] Other reported osteoarticular features are: a wide space between the first and second toes; talipes equinovarus; metatarsus adductus; genu recurvatum or genu valgum; flat[scielo.br]

  • Trisomy 10p

    Terminal deletion of chromosome 11 can cause Jacobsen syndrome [ 44 ] and has previously been associated with hypogammaglobulinemia, pancytopenia and low T-helper cell counts[ojrd.biomedcentral.com] Besides multiple minor dysmorphias the patient showed severe mental retardation, small stature, hypotonia, retarded bone age.[ncbi.nlm.nih.gov] spaced, inverted nipples, mild pectus excavatum; and a sandal gap between the first and second toes.[jmg.bmj.com]

  • Atelosteogenesis Type 2

    […] 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] Retardation, Characteristic Facies, Short Stature, and Skeletal Anomalies KBGS 148050 Genetic Test Registry Kniest Dysplasia 156550 Genetic Test Registry Larsen Syndrome[ukgtn.nhs.uk] 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]

  • Weaver Syndrome

    […] 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] The clinical manifestations are mild mental retardation, overgrowth with accelerated bone age, minor facial anomalies including broad forehead, mild hypertelorism, depressed[ncbi.nlm.nih.gov]

  • Familial Congenital Nasolacrimal Duct Obstruction

    In addition to the dysmorphic features, the boy had hypoglycemia and pancytopenia.[genome.jp] […] retinopathy and mental retardation; {268050}), which has been mapped to chromosome 8q21.3-q22.1.[mendelian.co] space between first and second toes (sandal toes) clinodactyly of the fifth finger All of these are found in individuals without DS.[medicalhomeportal.org]

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