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1,679 Possible Causes for Beckwith-Wiedemann Syndrome, Duplication or Triplication of Phalanges, Wide Space Between the First and Second Toe

  • Down Syndrome

    A wide space, often with a deep fissure between the first and second toes, is also common.[dx.doi.org] The patient has Beckwith-Wiedemann syndrome (BWS) due to paternal uniparental disomy (UPD) at chromosome location 11p15 (UPD 11p15), which was confirmed through methylation[ncbi.nlm.nih.gov] spacing, often with a deep plantar groove between the first and second toes.[doi.org]

    Missing: Duplication or Triplication of Phalanges
  • Kleiner Holmes Syndrome

    […] 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] Syndrome Beaulieu-Boycott-Innes Syndrome Becker Nevus Syndrome Beckwith-Wiedemann syndrome Beemer Ertbruggen Syndrome Beemer-Langer syndrome Behcet's disease Behr Syndrome[rgd.mcw.edu] Radiographs show broad, shortened, misshapen first metatarsals and may associate incomplete or complete duplication of proximal phalanges and duplication or triplication of[malacards.org]

  • Russell-Silver Syndrome

    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] Prenatal testing for Beckwith-Wiedemann syndrome and Russell-Silver syndrome cannot be performed on chorionic villus specimens.[mayomedicallaboratories.com] : K13769 ] Comment RSS and the overgrowth disease Beckwith-Wiedemann syndrome [DS: H00713 ] present two genetically and clinically opposite clinical pictures.[genome.jp]

    Missing: Duplication or Triplication of Phalanges
  • Genee-Wiedemann Syndrome

    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] BWS Wiedemann-Beckwith syndrome (WBS) Choufani S, Shuman C, Weksberg R. Beckwith-Wiedemann syndrome.[ghr.nlm.nih.gov] Hans-Rudolf Wiedemann in 1964; the combination of congenital anomalies was renamed Beckwith-Wiedemann syndrome by Prof.[pathologyoutlines.com]

    Missing: Duplication or Triplication of Phalanges
  • Weaver Syndrome

    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] Overgrowth syndromes such as Beckwith-Wiedemann syndrome, Sotos syndrome, and Weaver syndrome have an increased risk of neoplasia.[ncbi.nlm.nih.gov] […] doi: 10.1097/MPH.0b013e3181758974 Clinical and Laboratory Observations Abstract Author Information Authors Article Metrics Metrics Overgrowth syndromes such as Beckwith-Wiedemann[journals.lww.com]

    Missing: Duplication or Triplication of Phalanges
  • Dubowitz Syndrome

    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] Congenital malformation syndromes involving early overgrowth Inclusion term(s): Beckwith-Wiedemann syndrome Sotos syndrome Weaver syndrome Q87.4 Marfan's syndrome Q87.40[icd10coded.com] Dysmorphic syndromes (eg, Beckwith-Wiedemann syndrome, Seckel's syndrome, Zellweger's syndrome). [ 10 ] Local abnormalities (eg, lipomas, neurofibromatosis ).[patient.info]

    Missing: Duplication or Triplication of Phalanges
  • Ring Chromosome 10

    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 trisomy 9p 11q- Jacobsen Syndrome P Arm DUPLICATIONS Q Arm 11q14.2 11q23.3 triplication Beckwith-Wiedemann Syndrome “Methylation of 11p15.5 with loss of Methylation at[arcan.org.au] Wide space between first and second toes Wide-spaced big toe Widely spaced 1st-2nd toes Widely spaced first and second toes Widened gap 1st-2nd toes Widened gap first and[rarediseases.info.nih.gov]

    Missing: Duplication or Triplication of Phalanges
  • Atelosteogenesis Type 2

    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] Trophoblastic Disease Chapter 107 Limb–Body Wall Complex Chapter 108 Placenta Previa Chapter 109 Vasa Praevia Part 11 Fetal Growth Chapter 110 Fetal Macrosomia Chapter 111 Beckwith-Wiedemann[elsevier.com] Macroglossia Congenital macroglossia may be secondary to tumors (eg, dermoids), muscular hypertrophy or hyperplasia (Beckwith-Wiedemann syndrome), or hemihypertrophy.[oralmaxillo-facialsurgery.blogspot.com]

    Missing: Duplication or Triplication of Phalanges
  • Hepatoblastoma

    Abstract Beckwith-Wiedemann syndrome (BWS) is a rare congenital overgrowth disorder variably characterized by macrosomia, macroglossia, congenital hypoglycemia, and hemihyperplasia[ncbi.nlm.nih.gov] Hepatoblastoma is a tumour of early childhood occurring in association with genetic syndromes including Beckwith-Wiedemann Syndrome (BWS) which results from dominance of paternally-inherited[ncbi.nlm.nih.gov] The etiology of HBL is largely unknown but there are certain syndromes, such as Beckwith-Wiedemann syndrome, that have been clearly associated with an increased incidence[ncbi.nlm.nih.gov]

    Missing: Duplication or Triplication of Phalanges Wide Space Between the First and Second Toe
  • Rhabdomyosarcoma

    Key words: 11p15, alveolar rhabdomyosarcoma, Beckwith-Wiedemann syndrome, cancer This is a preview of subscription content, log in to check access.[doi.org] Genetic conditions associated with high risk of childhood RMS include Li-Fraumeni syndrome, pleuropulmonary blastoma, Beckwith-Wiedemann syndrome, and some RASopathies, such[ncbi.nlm.nih.gov] This is comparable to the 7-21% frequency of solid tumors in Beckwith-Wiedemann syndrome (BWS), and may justify tumor screening.[ncbi.nlm.nih.gov]

    Missing: Duplication or Triplication of Phalanges Wide Space Between the First and Second Toe