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17 Possible Causes for Pancytopenia, Short Neck, Wide Space Between the First and Second Toe

  • Down Syndrome

    Some common physical signs of the disorder include a small head, flattened face, short neck, up-slanted eyes, low-set ears, enlarged tongue and lips, and sloping underchin[britannica.com] 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]

  • Dubowitz Syndrome

    The features include: a small, narrow and asymmetrical face; a high, broad and sloping forehead; widely spaced eyes; broad nasal bridge; and short, webbed neck.[cafamily.org.uk] 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]

  • Ring Chromosome 10

    neck Decreased length of neck 0000470 Tapered finger Tapered fingertips Tapering fingers [ more ] 0001182 Thin vermilion border Decreased volume of lip Thin lips [ more ][rarediseases.info.nih.gov] […] 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]

  • Seckel Syndrome

    neck, and large prominent eyes, dwarfism in the pre, peri and post-natal, presence of microcephaly and episodes of choking.[scielo.br] 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]

  • Atelosteogenesis Type 2

    […] middle phalanx of finger ; Short neck ; Short sacroiliac notch ; Stillbirth ; Talipes equinovarus ; Thoracic hypoplasia Associated Genes SLC26A2 (Withdrawn symbols: DTD,[mousephenotype.org] […] 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]

  • Adactyly of Foot

    Additional unusual features were short neck and torticollis.[ojrd.biomedcentral.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] Synonyms:Anterior Polydactyly Replaces: Anterior Duplication of the Limb, Tibial Polydactyly Foot, Preaxial Polydactyly of Subjective: A widely spaced gap between the first[quizlet.com]

  • Familial Congenital Nasolacrimal Duct Obstruction

    […] nose; Upturned nasal tip; [Mouth]; Large, carp-shaped mouth; [Neck]; Short neck CARDIOVASCULAR: [Heart]; Ventricular septal defect; Atrial septal defect RESPIRATORY: Frequent[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] Jewish); 1 in 300 (Other) MODE OF INHERITANCE: autosomal recessive Individuals with Fanconi Anemia type C typically present with multiple congenital anomalies, followed by pancytopenia[chginc.org]

  • Cutis Laxa

    neck and diastase of the abdominal muscles.[scielo.br] During his early infancy, he had history of hospitalization for epistaxis, acute bronchopneumonia and pancytopenia.[ispub.com] SAMD9L -Related Ataxia-Pancytopenia Syndrome Prasit Phowthongkum, Dong-Hui Chen, Wendy H Raskind, and Thomas Bird. Initial Posting: June 1, 2017.[ncbi.nlm.nih.gov]

  • Weaver Syndrome

    The prime anesthetic problem reported in children with Weaver syndrome is difficulty with tracheal intubation, resulting in part from relative micrognathia, short neck, and[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]

  • Trisomy 10p

    Although the translocation also results in monosomy for Xq21-qter, she does not have any major stigmata of Turner’s syndrome, except for a short neck and broad chest, although[jmg.bmj.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] […] nose Palpebral fissures Up-slanting Horizontal Strabismus Cleft lip/palate Micro/retrognathia Down-turned mouth Malformed ears Short/webbed neck Cardiac defect Renal defect[e-sciencecentral.org]

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