bulldog syndrome

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bulldog syndrome2016-11-25T01:54:22+00:00

bulldog syndrome 

bulldog syndrome image from New Medical Terms

bulldog

GENETICS

An X-linked dysmorphia complex (OMIM:312870) first described by Simpson, which is characterised by a large, square protruding jaw, a broad nasal bridge, an upturned nose tip, macroglossia—resulting in a physiognomy fancifully likened to that of a bulldog, and broad short hands and feet, occasionally with polydactyly, and other defects including pectus excavatum, ventricular septal defect (or other congenital heart defects), Meckel diverticulum, intestinal malrotation, and congenital diaphragmatic hernia, and paediatric tumours, e.g., Wilms tumour, neuroblastoma

Molecular pathology Defects of GPC3, which encodes gypican 3, a cell surface proteoglycan that inhibits dipeptidyl peptidase activity, and may play a role in modulating growth of mesodermal tissues, in IGF2-receptor interactions, and in cellular growth and tumourigenesis, cause bulldog/Simpson-Golabi-Behmel syndrome.

Bulldogs are characterised by ferocity, courage, and tenacity of grip; its name has been attributed to its former use in baiting bulls 

Synonyms Sara Agers syndrome, Simpson-Golabi-Behmel syndrome 

Reference en.wikipedia.org/wiki/Simpson-Golabi-Behmel_syndrome

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