DISEASES

Disease-gene associations mined from literature

Human genes for Proteus syndrome

Proteus syndrome [DOID:13482]

Beckwith–Wiedemann syndrome (BWS) is an overgrowth disorder usually (but not always) present at birth characterized by an increased risk of childhood cancer and certain congenital features. Originally, Dr. Hans-Rudolf Wiedemann coined the term exomphalos-macroglossia-gigantism (EMG) syndrome to describe the combination of congenital abdominal wall defects as hernia - exomphalos, large tongue - macroglossia, and large body (and/or long limbs) - gigantism. Over time, this constellation was renamed Beckwith–Wiedemann syndrome following the autoptical observations of Prof. Beckwith, who observed also severe increase in the size of the adrenal glands in some of these patients. Five common features used to define BWS are: macroglossia, macrosomia - (birth weight and length >90th percentile), midline abdominal wall defects (omphalocele, umbilical hernia, diastasis recti), ear creases or ear pits, and neonatal hypoglycemia (low blood sugar after birth).

Synonyms:  Proteus syndrome,  DOID:13482,  Proteus disease,  Proteus disorder,  Proteus syndrome (disorder) ...

Linkouts:  OMIM #1 #2