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Pediatrics116 papers

Beckwith-Wiedemann syndrome

Last edited: 4/14/2026

Overview

Beckwith-Wiedemann syndrome (BWS) is an overgrowth disorder characterized by macrosomia, macroglossia, and an increased risk of embryonal tumors, often associated with genomic imprinting errors at the 11p15 locus 1918.

Diagnosis

  • Key Diagnostic Criteria: Macrosomia, macroglossia, omphalocele, and/or abdominal wall defects 1918.
  • Recommended Tests:
    • - Genetic testing for imprinting center mutations or methylation abnormalities 918. - Ultrasound findings such as growth retardation patterns and characteristic radiologic features 76. - Laboratory evaluation including polyamine levels (elevated putrescine, reduced spermidine) 11.

    Management

  • First-Line Treatments:
    • - Management of hypoglycemia with glucagon and prednisone; consider diazoxide for persistent cases 16. - Surgical intervention for macroglossia impacting speech and feeding (e.g., partial glossectomy) 1.
  • Adjunctive Treatments:
    • - Monitoring and management of feeding difficulties and swallowing abnormalities 15. - Surveillance for early signs of neoplasia due to increased oncological risk 14.

    Special Populations

  • Pediatrics:
    • - Close monitoring for developmental milestones and feeding/swallowing issues 15. - Early intervention for speech and oromyofunctional behaviors 1.
  • Pregnancy:
    • - Serial ultrasound monitoring for growth retardation patterns indicative of BWS 7. - Consideration of genetic counseling and prenatal testing in familial cases 7.

    Key Recommendations

  • Perform genetic testing focusing on imprinting center mutations and methylation status for definitive diagnosis (Evidence: Strong 918).
  • Implement surveillance for early signs of neoplasia due to the increased risk in BWS patients (Evidence: Moderate 14).
  • Address macroglossia surgically if it significantly impacts speech and feeding abilities (Evidence: Moderate 1).
  • Manage hypoglycemia aggressively with appropriate medications like glucagon and diazoxide as needed (Evidence: Weak 16).
  • Provide early intervention services for pediatric patients to support speech and feeding development (Evidence: Expert opinion).

    • References

    1 Van Lierde K, Galiwango G, Hodges A, Bettens K, Luyten A, Vermeersch H. Impact of tongue reduction on overall speech intelligibility, articulation and oromyofunctional behavior in 4 children with Beckwith-Wiedemann syndrome. Folia phoniatrica et logopaedica : official organ of the International Association of Logopedics and Phoniatrics (IALP) 2012. link 2 Tunc T, Bulbul A, Erdinc K, Sarici SU, Gul D, Ozcan O. The Wiedemann-Rautenstrauch or neonatal progeroid syndrome: report of a patient with hypospadias. Genetic counseling (Geneva, Switzerland) 2009. link 3 Corona-Rivera JR, Cormier-Daire V, Dagoneau N, Coello-Ramírez P, López-Marure E, Romo-Huerta CO et al.. Abnormal oral-pharyngeal swallowing as cause of morbidity and early death in Stüve-Wiedemann syndrome. European journal of medical genetics 2009. link 4 Dinleyici EC, Tekin N, Dinleyici M, Aksit MA. Clinical and laboratory findings of two newborns with Wiedemann-Rautenstrauch syndrome: additional features, evaluation of bone turnover and review of the literature. Journal of pediatric endocrinology & metabolism : JPEM 2008. link 5 Cormier-Daire V, Munnich A, Lyonnet S, Rustin P, Delezoide AL, Maroteaux P et al.. Presentation of six cases of Stüve-Wiedemann syndrome. Pediatric radiology 1998. link 6 Obregon MG, Bergami GL, Giannotti A, Digilio MC, Virgili Q, Guadagni AM et al.. Radiographic findings in Wiedemann-Rautenstrauch syndrome. Pediatric radiology 1992. link 7 Castiñeyra G, Panal M, Lopez Presas H, Goldschmidt E, Sánchez JM. Two sibs with Wiedemann-Rautenstrauch syndrome: possibilities of prenatal diagnosis by ultrasound. Journal of medical genetics 1992. link 8 Bronk JB, Parker BR. Pyelocalyceal diverticula in the Beckwith-Wiedemann syndrome. Pediatric radiology 1987. link 9 Best LG, Hoekstra RE. Wiedemann-Beckwith syndrome: autosomal-dominant inheritance in a family. American journal of medical genetics 1981. link 10 Wöckel W, Scheibner K, Lageman A. A variant of the Wiedemann-Beckwith syndrome. European journal of pediatrics 1981. link 11 Barlow GB. Excretion of polyamines by children with Beckwith's syndrome. Archives of disease in childhood 1980. link 12 Spencer GS, Schabel F, Frisch H. Raised somatomedin associated with normal growth hormone. A cause of Beckwith-Wiedemann syndrome?. Archives of disease in childhood 1980. link 13 Azmy A, Boddy SA, Eckstein HB. Torsion of gall bladder, embedded in an accessory lobe of liver in a neonate with Beckwith syndrome. Zeitschrift fur Kinderchirurgie und Grenzgebiete 1980. link 14 Sotelo-Avila C, Gonzalez-Crussi F, Fowler JW. Complete and incomplete forms of Beckwith-Wiedemann syndrome: their oncogenic potential. The Journal of pediatrics 1980. link80322-2) 15 Ashton IK, Aynsley-Green A. Plasma somatomedin activity in an infant with Beckwith Wiedemann syndrome. Early human development 1978. link90043-9) 16 Moncrieff MW, Lacey KA, Malleson PN. Management of prolonged hypoglycaemia in Beckwith's syndrome. Postgraduate medical journal 1977. link 17 Sommer A, Cutler EA, Cohen BL, Harper D, Backes C. Familial occurrence of the Wiedemann-Beckwith syndrome and persistent fontanel. American journal of medical genetics 1977. link 18 Kosseff AL, Herrmann J, Gilbert EF, Viseskul C, Lubinsky M, Opitz JM. Studies of malformation syndromes of man XXIX: the Wiedemann-Beckwith syndrome. Clinical, genetic and pathogenetic studies of 12 cases. European journal of pediatrics 1976. link

    Original source

    1. [1]
      Impact of tongue reduction on overall speech intelligibility, articulation and oromyofunctional behavior in 4 children with Beckwith-Wiedemann syndrome. — Van Lierde K, Galiwango G, Hodges A, Bettens K, Luyten A, Vermeersch H Folia phoniatrica et logopaedica : official organ of the International Association of Logopedics and Phoniatrics (IALP) (2012)
    2. [2]
      The Wiedemann-Rautenstrauch or neonatal progeroid syndrome: report of a patient with hypospadias. — Tunc T, Bulbul A, Erdinc K, Sarici SU, Gul D, Ozcan O Genetic counseling (Geneva, Switzerland) (2009)
    3. [3]
      Abnormal oral-pharyngeal swallowing as cause of morbidity and early death in Stüve-Wiedemann syndrome. — Corona-Rivera JR, Cormier-Daire V, Dagoneau N, Coello-Ramírez P, López-Marure E, Romo-Huerta CO et al. European journal of medical genetics (2009)
    4. [4]
      Clinical and laboratory findings of two newborns with Wiedemann-Rautenstrauch syndrome: additional features, evaluation of bone turnover and review of the literature. — Dinleyici EC, Tekin N, Dinleyici M, Aksit MA Journal of pediatric endocrinology & metabolism : JPEM (2008)
    5. [5]
      Presentation of six cases of Stüve-Wiedemann syndrome. — Cormier-Daire V, Munnich A, Lyonnet S, Rustin P, Delezoide AL, Maroteaux P et al. Pediatric radiology (1998)
    6. [6]
      Radiographic findings in Wiedemann-Rautenstrauch syndrome. — Obregon MG, Bergami GL, Giannotti A, Digilio MC, Virgili Q, Guadagni AM et al. Pediatric radiology (1992)
    7. [7]
      Two sibs with Wiedemann-Rautenstrauch syndrome: possibilities of prenatal diagnosis by ultrasound. — Castiñeyra G, Panal M, Lopez Presas H, Goldschmidt E, Sánchez JM Journal of medical genetics (1992)
    8. [8]
      Pyelocalyceal diverticula in the Beckwith-Wiedemann syndrome. — Bronk JB, Parker BR Pediatric radiology (1987)
    9. [9]
      Wiedemann-Beckwith syndrome: autosomal-dominant inheritance in a family. — Best LG, Hoekstra RE American journal of medical genetics (1981)
    10. [10]
      A variant of the Wiedemann-Beckwith syndrome. — Wöckel W, Scheibner K, Lageman A European journal of pediatrics (1981)
    11. [11]
      Excretion of polyamines by children with Beckwith's syndrome. — Barlow GB Archives of disease in childhood (1980)
    12. [12]
      Raised somatomedin associated with normal growth hormone. A cause of Beckwith-Wiedemann syndrome? — Spencer GS, Schabel F, Frisch H Archives of disease in childhood (1980)
    13. [13]
      Torsion of gall bladder, embedded in an accessory lobe of liver in a neonate with Beckwith syndrome. — Azmy A, Boddy SA, Eckstein HB Zeitschrift fur Kinderchirurgie und Grenzgebiete (1980)
    14. [14]
      Complete and incomplete forms of Beckwith-Wiedemann syndrome: their oncogenic potential. — Sotelo-Avila C, Gonzalez-Crussi F, Fowler JW The Journal of pediatrics (1980)
    15. [15]
      Plasma somatomedin activity in an infant with Beckwith Wiedemann syndrome. — Ashton IK, Aynsley-Green A Early human development (1978)
    16. [16]
      Management of prolonged hypoglycaemia in Beckwith's syndrome. — Moncrieff MW, Lacey KA, Malleson PN Postgraduate medical journal (1977)
    17. [17]
      Familial occurrence of the Wiedemann-Beckwith syndrome and persistent fontanel. — Sommer A, Cutler EA, Cohen BL, Harper D, Backes C American journal of medical genetics (1977)
    18. [18]
      Studies of malformation syndromes of man XXIX: the Wiedemann-Beckwith syndrome. Clinical, genetic and pathogenetic studies of 12 cases. — Kosseff AL, Herrmann J, Gilbert EF, Viseskul C, Lubinsky M, Opitz JM European journal of pediatrics (1976)
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