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19 Possible Causes for Beckwith-Wiedemann Syndrome, Broad Nasal Bridge, Wide Space Between the First and Second Toe

  • Down Syndrome

    bridge, broad hands with short fingers, decreased muscle tone, and by trisomy of the human chromosome numbered 21 — called also trisomy 21 First Known Use of Down syndrome[merriam-webster.com] 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]

  • Dubowitz Syndrome

    nasal bridge, dysplastic auricles, and retrognathia, is presented.[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] 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]

  • Ring Chromosome 10

    bridge Broad nasal bridge Broad nasal root Broadened nasal bridge Increased breadth of bridge of nose Increased breadth of nasal bridge Increased width of bridge of nose[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] 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]

  • Weaver Syndrome

    nasal bridge, accentuated philtrum, micrognathia and large ears, and unique behavior characteristics with some social withdrawal.[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] Overgrowth syndromes such as Beckwith-Wiedemann syndrome, Sotos syndrome, and Weaver syndrome have an increased risk of neoplasia.[ncbi.nlm.nih.gov]

  • Genee-Wiedemann Syndrome

    Clinical: Clefts and fibroma of tongue; polydactylia; broad nasal bridge; narrow-arched palate ; short humerus, femur, and tibia; irregular teeth; hypotonia; mental retardation[dentisty.org] 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]

  • Craniofrontonasal Dysplasia

    bridge Broad nasal bridge Broad nasal root Broadened nasal bridge Increased breadth of bridge of nose Increased breadth of nasal bridge Increased width of bridge of nose[rarediseases.info.nih.gov] D-2 Weaver症候群:Weaver syndrome D-3 Simpson-Golabi-Behmel症候群:Simpson-Golabi-Behmel syndrome D-4 Berardinelli症候群:Berardinelli syndrome D-5 Beckwith-Wiedemann症候群:Beckwith-Wiedemann[nankodo.co.jp] […] and broad nasal bridge.[mjdrdypu.org]

  • Atelosteogenesis Type 2

    Note dysplasia, scaphocephalic macrocephaly, coarse facial features, depressed nasal bridge, broad nasal tip, thick lips, short neck, protuberant abdomen, inguinal hernia,[thehealthscience.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] 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]

  • Macrocephaly-Developmental Delay Syndrome

    nasal bridge, broad cheeks, low-set ears, bilateral and single palmar crease, bilateral clinodactyly of the 5th fingers, overriding toes and hypospadias], persistent nephrogenesis[chr7.org] space between first and second toes (sandal toes) clinodactyly of the fifth finger All of these are found in individuals without DS.[medicalhomeportal.org] Diagnosis of Beckwith-Wiedemann syndrome can be challenging due to both the variable clinical presentation and the often mosaic nature of the molecular changes.[emedicine.medscape.com]

  • Familial Congenital Nasolacrimal Duct Obstruction

    […] flat nasal bridge, malformed ears, and short neck.[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] syndrome Bardet-Biedl syndrome Barth syndrome Basal cell nevus syndrome Beckwith Wiedemann syndrome Beckwith-Wiedemann syndrome Biemond's syndrome Bird-headed dwarfism with[icd9data.com]

  • Kleiner Holmes Syndrome

    bridge; Choanal stenosis or atresia; Strabismus; Narrow palate; Cleft palate; Bifid uvula; Malocclusion; Delayed dental eruption; Ventricular septal defect; Overriding aorta[panelapp.genomicsengland.co.uk] […] 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]

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