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11 Possible Causes for Neonatal Hypotonia, Pancytopenia, Wide Space Between the First and Second Toe

  • Down Syndrome

    Frequently the first feature noticed is hypotonia. Neonatal features of Down's syndrome General: Hyperflexibility. Muscular hypotonia.[patient.info] 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]

  • Ring Chromosome 10

    hypotonia, normal to accelerated growth, autistic behaviour and minor dysmorphic features.[tp.amegroups.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]

  • Atelosteogenesis Type 2

    Hydrocephalus Seizures Survival beyond neonatal period Normal karyotvpe - t 111 3 I4 0 19 2 I5 t - 515 10110 5 I5 NR 315 014 215 0 I4 515 013 414 NR 515 111 415 212 515 111[documents.tips] […] 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

    […] 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] […] criteria provided, single submitterCongenital giant melanocytic nevus, Obesity, Behavioral abnormality, Scoliosis, Abnormal facial shape, Hyperpigmentation of the skin, Neonatal[ncbi.nlm.nih.gov] 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

    Patients with FOXG1 pathogenic variants often demonstrate normal birth parameters, followed by hypotonia and extreme irritability in the neonatal period.[chginc.org] 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

    […] 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] Additional features that may be present include neonatal hypotonia, seizures, scoliosis, strabismus, congenital heart defects, and cancer (Kaneko et al. 1987 ; Hersh et al[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]

  • Trisomy 10p

    Prader–Willi patients typically present with neonatal hypotonia and poor feeding.[plasticsurgerykey.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]

  • Mild Dysmorphic Features

    In addition, the two older males (ages 31 and 54) had microcephaly, short stature and pancytopenia, which was most severe in the 54-year-old man.[nature.com] Hypotonia, joint hyperextensibility, neonatal jaundice, simian crease, shortened digits, and excess skin on the back of the neck contribute to the clinical features.[emedicine.medscape.com] , fourth, and fifth fingers; feet held in eversion, prominent heels; wide space between the first and second toes; proximally placed fifth toes; hypotonia; increased skin[ssmc-tl.com]

  • Baraitser Syndrome

    The first girl had neonatal hypotonia, mental retardation, and generalized tonic-clonic seizures.[omim.org] Lymphedema Bilateral camptodactyly Leukodystrophy Bipolar affective disorder Spina bifida Primary amenorrhea Hand polydactyly Ventricular hypertrophy Abnormal palate morphology Pancytopenia[mendelian.co] 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]

  • Tricho-Oculo-Dermo-Vertebral Syndrome

    hypotonia Visual loss Edema Microglossia Retinal dysplasia Stridor Selective tooth agenesis Lacrimal duct atresia Patchy alopecia Oval face Hyperconvex nail Ankyloblepharon[mendelian.co] Syndrome Child Syndrome Femoral Hypoplasia-Unusual Facies Syndrome Tibial Aplasia-Ectrodactyly Syndrome Adams-Oliver Syndrome Holt-Oram Syndrome Levy-Hollister Syndrome Fanconi Pancytopenia[callisto.ro] space between the first and second toes, and fusion of carpal and tarsal bones.[findzebra.com]

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