Disease Information for Simpson dysmorphia syndrome

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Clinical Manifestations
Signs & Symptoms
Particular physiognomy/Odd looking kids
Bulldog facies/child
Congenital facial deformities
Craniofacial Abnormalities/Congenital
Facies particular
Midfacial hypoplasia/flat face dysmorphism
Large baby/birth weight increased
Uvula anomaly/deformity
Snoring
Coarsened facial features
Dysmorphic appearance/face
Clinical Presentation & Variations
Presentation/Multiple deformities newborn (odd look)
Presentation/Broad flat midface Nasal bridge Protruding jaw
Disease Progression
Course/Chronic disorder
Course/Chronic only
Demographics & Risk Factors
Population Group
Child
Population/Pediatrics population
Sex & Age Groups
Population/Boy patient
Population/Child
Population/Child-Infant Only
Population/Children/all
Population/Male
Associated Diseases & Rule outs
Associated Disease & Complications
Cleft Lip
Cleft palate/deformity
Facial dysplasia
Gigantism
Disease Mechanism & Classification
Class
CLASS/Pediatric disorders (ex)
Pathophysiology
Pathophysiology/Gene locus Chromosome X.
Pathophysiology/Gene Locus Identified/OMIM database
Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
Pathophysiology/Maternal Chromosome mutation
Process
PROCESS/Eponymic (category)
PROCESS/Eponymic/Esoteric/Not yet integrated into database
PROCESS/Genetic disorder/Spontaneous mutations/sporadic
PROCESS/Hereditofamilial (category)
PROCESS/INCIDENCE/Esoteric disease (example)
PROCESS/INCIDENCE/Extremely rare disease
PROCESS/Sex-linked (X-linked) recessive inheritance (ex)
PROCESS/Dystostosis/craniofacial (ex)
Synonyms
Synonym
Simpson dysmorphia syndrome, Synonym/Bulldog syndrome, Synonym/DGSX Golabi-Rosen syndrome/variant, Synonym/Dysplasia gigantism syndrome, x-linked, Synonym/SDYS, Synonym/SGB syndrome, Synonym/Simpson-Golabi-Behmel syndrome
Definition

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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External Links Related to Simpson dysmorphia syndrome
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PubMed (National Library of Medicine)
NGC (National Guideline Clearinghouse)
Medscape (eMedicine)
Harrison's Online (accessmedicine)
NEJM (The New England Journal of Medicine)
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