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2,502 Possible Causes for Beaked Nose, 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] nose, abnormally large eyes, a narrow face, malformed ears, and/or an unusually small jaw.[bertsbigadventure.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] This syndrome is characterized by a proportionate dwarfism of prenatal onset, a severe microcephaly with a "bird-headed" like appearance (beaked nose, receding forehead, prominent[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]

  • Seckel Syndrome Type 2

    Underproduction of all types of blood cells (pancytopenia) occurs in some patients, as does chromosome instability.[medicinenet.com] nose Beaklike protrusion Hooked nose Polly beak nasal deformity [ more ] 0000444 Craniosynostosis 0001363 Delayed skeletal maturation Delayed bone maturation Delayed skeletal[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.[dx.doi.org]

    Missing: Beaked Nose
  • LIG4 Syndrome

    (LIG4 syndrome) is a rare autosomal recessive disorder characterized by microcephaly, growth retardation, low birth weight, dysmorphic facial findings, immunodeficiency, pancytopenia[semanticscholar.org] Clinical description LIG4 syndrome presents in childhood with microcephaly, unusual facial features that have been described as ''bird-like'' (beak-like nose and micrognathia[orpha.net] Some patients have a severe immunodeficiency characterized by pancytopenia, causing chronic respiratory infections and sinusitis.[en.wikipedia.org]

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

    […] nose, clubfoot, undescended testes, premature fusion of skull, hypothyroidism, delayed puberty, narrow face, prominent nose, narrow face, hypoparathyodism, small brain, pancytopenia[symptoms.in] […] inheritance 0000007 Goiter Enlarged thyroid gland in neck 0000853 Insulin-resistant diabetes mellitus Insulin resistant diabetes Insulin-resistant diabetes [ more ] 0000831 Pancytopenia[rarediseases.info.nih.gov] The most common symptoms of this syndrome would be short stature, goiter, diabetes, ataxia, deafness, small head, mental retardation, beaked nose, clubfoot, undescended testes[symptoms.in]

    Missing: Wide Space Between the First and Second Toe
  • X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome

    […] fusion anomalies Microcephaly chorioretinopathy recessive form Microcephaly cleft palate autosomal dominant Microcephaly deafness syndrome Microcephaly developmental delay pancytopenia[thefullwiki.org] Characteristic facial features can include a distinctive elongated facies, micrognathia, small mouth, high arched palate, low set ears, long philtrum, beaked nose, down-slanting[nature.com] […] syndrome Ataxia-hypogonadism-choroidal dystrophy syndrome Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome Ataxia-oculomotor apraxia type 1 Ataxia-pancytopenia[se-atlas.de]

    Missing: Wide Space Between the First and Second Toe
  • Cerebral Cortical Atrophy

    […] article, a 12-month-old female infant with psychomotor developmental retardation who was referred to our hospital with the initial diagnosis of leukemia due to the finding of pancytopenia[scopemed.org]

    Missing: Wide Space Between the First and Second Toe
  • Cutis Laxa

    During his early infancy, he had history of hospitalization for epistaxis, acute bronchopneumonia and pancytopenia.[ispub.com] Typically, patients present with characteristic facial features including a premature aged appearance, long philtrum, a high forehead, large ears, and a beaked nose.[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]

  • Bilateral Renal Agenesis

    We report a fetus with an unusual combination of features including bilateral renal agenesis, hydrops, cardiac hypertrophy and pancytopenia.[ncbi.nlm.nih.gov] The face usually consists of wide-set eyes; a “parrot beaknose; a receding chin, and large low set ears deficient in cartilage.[rarediseases.org] nose, receding chin, large low set ears with deficient auricular cartilages, absent urine output and non palpable kidneys.[drberman.org]

    Missing: Wide Space Between the First and Second Toe

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