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15 Possible Causes for Ear Deformity, 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] 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]

  • Seckel Syndrome

    ears lacking lobules, skeletal malformations, mental retardation, and developmental delay.[ncbi.nlm.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] 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]

  • Dubowitz Syndrome

    In addition, the eyes may be small and wide set, and the affected individual may have low-set ears.[wisegeek.net] 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

    Auricular malformation Deformed ears Malformed ears Simple ears [ more ] 0000377 Abnormally large globe Increased size of eyes Large eyes [ more ] 0001090 Autosomal recessive[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]

  • Atelosteogenesis Type 2

    Associated malformations include urinary tract duplication, hydronephrosis, cleft palate, ear deformities, corneal clouding and blue sclera, anal atresia and aplastic testis[fetalultrasound.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]

  • Ring Chromosome 10

    GTG banding manifestations include hypotonia, foot deformation, karyotype in our patient revealed that the 18p11.32 proximally placed thumbs, arthritis/stenotic ear and canals[docksci.com] […] 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]

  • Cutis Laxa

    The face had a senile appearance with pendulous ear lobes and lax skin (Figure 1). His thorax is deformed with scoliosis.[panafrican-med-journal.com] During his early infancy, he had history of hospitalization for epistaxis, acute bronchopneumonia and pancytopenia.[ispub.com] 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]

  • Familial Congenital Nasolacrimal Duct Obstruction

    Deformities, Acquired Ear Diseases Ear Neoplasms Earache Eating Disorders Ebstein's Anomaly Ecchymosis Echinococcosis Echinococcosis, Hepatic Echinococcosis, Pulmonary Echinostomiasis[medgene.med.harvard.edu] In addition to the dysmorphic features, the boy had hypoglycemia and pancytopenia.[genome.jp] space between first and second toes (sandal toes) clinodactyly of the fifth finger All of these are found in individuals without DS.[medicalhomeportal.org]

  • Weaver Syndrome

    People with Weaver syndrome can also have joint deformities called contractures that restrict the movement of affected joints.[ghr.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]

  • Trisomy 10p

    […] syndrome - prominent ears Tetramelic deficiencies -- Ectodermal dysplasia -- deformed ears -- other abnormalities - prominent ears Thompson-Baraitser syndrome - prominent[dumboearsinlouisiana.weebly.com] 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] spaced, inverted nipples, mild pectus excavatum; and a sandal gap between the first and second toes.[jmg.bmj.com]

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