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22 Possible Causes for Congenital Heart Disease, Dysmorphic Face, Wide Space Between the First and Second Toe

  • Down Syndrome

    heart disease and Down syndrome.[ncbi.nlm.nih.gov] 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]

  • Seckel Syndrome

    Tricuspid atresia is a rare and life threatening cyanotic congenital heart diseases, with an incidence of 1% to 3%.[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] face (bird-like), and mild to severe intellectual disability.[orpha.net]

  • Ring Chromosome 10

    In some of the cases congenital heart disease was present.[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] face, upward slanting palpebral fissures, broad nose, narrow nares, large lips, short neck, widely spaced nipples, puffy hand and feet, dark pigmented naevi, caf -au-lait[chr7.org]

  • Russell-Silver Syndrome

    , etc.) motor, speech, and/or cognitive delay Rare cases have been associated with: cardiac defects (congenital heart disease, pericarditis, etc.) underlying malignant conditions[healthline.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] […] and further dysmorphisms.[ncbi.nlm.nih.gov]

  • Cutis Laxa

    heart disease NGS panel CHD7, ELN, GATA4, GATA6, GDF1, JAG1, NKX2-5, NKX2-6, NOTCH1, NOTCH2, NR2F2, TAB2, TBX1, TBX20, TBX5, ZIC3 Del Dup NGS Connective tissue disorder NGS[ctgt.net] 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] Cutis laxa with face dysmorphism,cleft palate & MR: folds ] 20. Cutis laxa with face dysmorphism,cleft palate & MR: folds ] 21.[slideshare.net]

  • Dubowitz Syndrome

    For example, echocardiography is needed in the setting of congenital heart diseases (CHDs), whereas a complete laboratory workup with an immunological profile in case frequent[symptoma.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] Developmental Delay : behind schedule in reaching milestones of early childhood development Dysmorphic Face : this refers to minor facial anomalies that occur fairly frequently[ric.edu]

  • Atelosteogenesis Type 2

    heart disease NGS panel CHD7, ELN, GATA4, GATA6, GDF1, JAG1, NKX2-5, NKX2-6, NOTCH1, NOTCH2, NR2F2, TAB2, TBX1, TBX20, TBX5, ZIC3 Del Dup NGS Connective tissue disorder NGS[ctgt.net] 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] , and mental retardation, see genitopatellar syndrome absent thumbs, dislocated joints, long face with narrow palpebral fissures, long slender nose, arched palate, see RAPADILINO[mygenomics.com]

  • Kleiner Holmes Syndrome

    heart disease.[docksci.com] […] gap between first and second toes Wide space between 1st, 2nd toes Wide space between first and second toes Widely spaced 1st-2nd toes Widely spaced first and second toes[rarediseases.info.nih.gov] Mental Retardation, Microcephaly, Epilepsy, and Coarse Face Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, and Facial Dysmorphism Mental Retardation[rgd.mcw.edu]

  • Familial Congenital Nasolacrimal Duct Obstruction

    The genetic basis of congenital heart disease. Ped Annals 2000; 19 : 469–480. 2. Goldmuntz E. The epidemiology and genetics of congenital heart disease.[nature.com] space between first and second toes (sandal toes) clinodactyly of the fifth finger All of these are found in individuals without DS.[medicalhomeportal.org] She had psychomotor retardation (IQ of 45), chronic constipation, and dysmorphic facial features, including square face, high forehead, hypertelorism, epicanthal folds, broad[genome.jp]

  • Kenny-Caffey Syndrome Type 1

    In addition to intellectual disability, many other health problems, such as congenital heart disease, Alzheimer’s disease, leukemia, hypotonia, motor disorders, and various[medcraveonline.com] The association of severe short stature, dysmorphic face, teeth abnormalities and bone dysplasia must guide us to suggest the diagnosis especially in the Middle Eastern and[abstracts.eurospe.org] , preominent forehead, triangular face with deep-set eyes, abnormalexternal ear, wide depressed nasal bridge, bulbous nasal tip,antevertednares, long philtrum, thin lips and[alliedacademies.org]

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