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23 Possible Causes for Short Neck, Ventricular Septal Defect, Wide Space Between the First and Second Toe

  • Down Syndrome

    CONCLUSION: More than one-third of children with DS have CHD with ventricular septal defect, which is the most common.[ncbi.nlm.nih.gov] 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] A wide space, often with a deep fissure between the first and second toes, is also common.[dx.doi.org]

  • Ring Chromosome 10

    […] secundum and a small ventricular septal defect (VSD).[molecularcytogenetics.biomedcentral.com] 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] septal defect, mild dysplasia of the tricuspid valve and mild developmental delay.[biomedsearch.com]

  • Seckel Syndrome

    neck, and large prominent eyes, dwarfism in the pre, peri and post-natal, presence of microcephaly and episodes of choking.[scielo.br] 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 Krantz, I. (2011) "Proportionate short stature syndromes." Gorlin's Syndromes of the Head and Neck. Oxford, England: Oxford University Press:440-80.[rarediseases.about.com]

  • Atelosteogenesis

    Congenital cardiac defects are seen in chondroectodermal dysplasia, 26 the short-rib polydactyly disorders (complex outlet defects including isolated ventricular septal defects[nature.com] […] femur ; Short humerus ; Short metacarpal ; Short metatarsal ; Short neck ; Short nose ; Sporadic ; Stillbirth ; Talipes equinovarus ; Thoracic platyspondyly ; Tibial bowing[mousephenotype.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]

  • Atelosteogenesis Type 2

    Defects Chapter 77 Ventricular Septal Defect Chapter 78 Atrioventricular Septal Defect Section Three Right Heart Defects Chapter 79 Tricuspid Atresia Chapter 80 Ebstein Anomaly[elsevier.com] […] middle phalanx of finger ; Short neck ; Short sacroiliac notch ; Stillbirth ; Talipes equinovarus ; Thoracic hypoplasia Associated Genes SLC26A2 (Withdrawn symbols: DTD,[mousephenotype.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]

  • Dubowitz Syndrome

    septal defects, as well as patent ductus arteriosus).[symptoma.com] 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] 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]

  • Genee-Wiedemann Syndrome

    Other features include supernumerary vertebrae and other vertebral segmentation and rib defects, heart defects (patent ductus arteriosus, ventricular septal defect and Ostium[en.wikipedia.org] The clinical triad consists of short neck, low posterior hairline, and limited neck movement, although less than 50% of patients demonstrate all 3 clinical features ( Tracy[mendelian.co] He had a wide space between the first and second toe of his feet and subungual fibroma on the second and third toe of the right foot and on the third toe of the left foot.[jmg.bmj.com]

  • Familial Congenital Nasolacrimal Duct Obstruction

    (ventricular septal defect, patent ductus arteriosus).[nature.com] […] 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]

  • Kleiner Holmes Syndrome

    septal defect; Overriding aorta; Anomalous tracheal cartilage; Pyloric stenosis; Esophageal atresia; Ectopic anus; Cryptorchidism; Vaginal atresia; Hydronephrosis; Craniosynostosis[panelapp.genomicsengland.co.uk] […] stature Milia Short distal phalanx of the 2nd finger Poor motor coordination Scoliosis Short proximal phalanx of finger Short neck Kyphosis Severe short stature Short proximal[mendelian.co] […] 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]

  • Cutis Laxa

    septal defect , Indian J Surg , 2005 , vol. 67 (pg. 43 - 4 ) 5 Autosomal recessive cutis laxa syndrome revisited , Eur J Hum Genet , 2009 , vol. 17 (pg. 1099 - 100 ) 6 Fibulins[academic.oup.com] neck and diastase of the abdominal muscles.[scielo.br] Infantile congenital cutis laxa with multiple hernias and ventricular septal defect. Indian J Surg 2005; 67: 43. 2.[caribbean.scielo.org]

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