Disease Information for Simpson dysmorphia syndrome

An encephalo-tropho-schisis syndrome with pre- or postnatal overgrowth, coarse ("bulldog-like") facies with protruding jaw and tongue, occasional mental retardation, and congenital abnormalities of the extremities and other parts with variable expression.-------------------------------------------

Simpson Dysmorphia Syndrome

Bulldog Syndrome

DGSX Golabi-Rosen Syndrome, Included

Dysplasia Gigantism Syndrome, X-Linked

SDYS

SGB Syndrome

Simpson-Golabi-Behmel Syndrome

Disorder Subdivisions

Simpson Dysmorphia Syndrome Type 1 (SDYS1)

Simpson Dysmorphia Syndrome Type 2

General Discussion

Simpson dysmorphia syndrome types 1 and 2 are two forms of a rare, X-linked recessive, inherited disorder characterized by unusually large fetuses (prenatal overgrowth) and unusually large babies (postnatal overgrowth). In addition, affected individuals have characteristic facial features, more than two nipples (super-numerary nipples), and multisystemic malformations that may vary from child to child. Chief among these are cardiac malformations, mild to moderate mental retardation, cleft palate, and more than the five fingers and/or toes (polydactyly).

Symptoms associated with the more common form, Simpson dysmorphia syndrome type 1 (SDYS1), are less severe than those presented in SDYS2.

Individuals usually reach an above-average height. The general distinguishing features typically become less apparent in adulthood.

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