Endocrinology · Endocrinology / Pediatric endocrinology
Beckwith–Wiedemann syndrome
also: BWS; EMG syndrome
Overgrowth imprinting disorder with macroglossia, omphalocele and neonatal hypoglycemia.
- Specialty
- Endocrinology
- Subspecialty
- Endocrinology / Pediatric endocrinology
- Sex & age distribution
- Male: affected; Female: affected equally; Children: yes, birth
- Gene(s) involved
- CDKN1C, H19, IGF2, KCNQ1OT1
- Alternative names & eponyms
- BWS; EMG syndrome
Etiology & mechanism
Dysregulation of imprinted growth genes at 11p15.5.
Gene(s) involved (4)
Symptoms & signs (8)
In plain terms, someone with Beckwith–Wiedemann syndrome may experience the following — click any to explore related syndromes:
Same gene(s)
Other syndromes that involve one of this syndrome's genes.
Overlapping symptoms
Other syndromes that share symptoms with this one.
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Shares symptoms with
2 shared
Simpson–Golabi–Behmel syndrome
macroglossia, macrosomia
1 shared
Cantú syndrome
macrosomia
1 shared
Cloacal exstrophy OEIS syndrome
omphalocele
1 shared
Pentalogy of Cantrell
omphalocele
1 shared
Perlman syndrome
macrosomia
1 shared
POEMS syndrome
organomegaly
1 shared
TAFRO syndrome
organomegaly
1 shared
Transient neonatal diabetes syndrome
macroglossia
Shares genes with
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