BECKWITH-WIEDEMANN SYNDROME. EXOMPHALOS-MAKROGLOSSIA-GIGANTISM SYNDROME (BWS)

Question 1

What is  BECKWITH-WIEDEMANN SYNDROME. EXOMPHALOS-MAKROGLOSSIA-GIGANTISM SYNDROME (BWS)?

Accepted Answer

rare (1:10000, 1:13700 West-Indies)
sporadic
autosomal dominant

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Wiedemann-Beckwith-Syndrom; Exomphalos - Makroglossie - Gigantismus

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 130650

Question 4

Which enzymes are involved?

Accepted Answer

Cyclin-dependent kinase inhibitor 1C; Histone-lysine N-methyltransferase, H3 lysine-36 and H4 lysine-20 specific

Disease	BECKWITH-WIEDEMANN SYNDROME. EXOMPHALOS-MAKROGLOSSIA-GIGANTISM SYNDROME (BWS)
Synonym	EMG SYNDROME; BECKWITH-WIEDEMANN SYNDROME
OMIM	130650 OMIM = Online Mendelian Inheritance of Men
Orphanet	116
Protein (UniProt)	Cyclin-dependent kinase inhibitor 1C; Histone-lysine N-methyltransferase, H3 lysine-36 and H4 lysine-20 specific
ExPASy	---
Gene locus	11p15.5
ICD	Q87.3
Summary	rare (1:10000, 1:13700 West-Indies) sporadic autosomal dominant
Laboratory findings	D-Glucose dec (serum) Insulin inc (serum)
Symptoms	hemihypertrophy high birthweight (large for gestational age) hyperinsulinism hypoglycemia lateralised overgrowth macroglossia, large/protuding tongue macrosomia malignant tumor (e.g., Wilms tumor, hepatoblastoma, neuroblastoma, and rhabdomyosarcoma)Wilms) omphalocele (exomphalos) apnea coarse facial features ear anomalies (pits, creases) hepatomegaly (large liver) large mid-face (broad, prominent) multicystic dysplastic kidneys nephrocalcinosis nephromegaly nevus flammeus onset, infancy onset, neonatal small mid-face (malar or maxillary hypoplasia) splenomegaly (large spleen) tall stature urolithiasis, nephrolithiasis, kidney stones ventricular septal defect