Disease Information for Pitt syndrome (4p16.3)

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Clinical Manifestations
Signs & Symptoms
Particular physiognomy/Odd looking kids
Craniofacial Abnormalities/Congenital
Facies particular
Poor weight gain/child
Mental Deficiency Child
Seizures
Dysmorphic dwarfism/short stature
Dysmorphic appearance/face
Short stature
Short stature Child
Clinical Presentation & Variations
Presentation/Multiple deformities newborn (odd look)
Disease Progression
Course/Chronic disorder
Course/Chronic only
Demographics & Risk Factors
Population Group
Child
Population/Pediatrics population
Sex & Age Groups
Population/Child
Population/Child-Infant Only
Population/Children/all
Laboratory Tests
Abnormal Lab Findings (Non Measured)
DNATest specific/genetics laboratory/abnormality (Lab)
Specific Single Nucleotide Polymorphism/SNIP genome type
Associated Diseases & Rule outs
Associated Disease & Complications
Dwarfism
Fetal anomaly
Growth retardation/failure
Hypertelorism/Wide Spaced Eyes
Mental retardation
Nanism/dwarfism
Disease Mechanism & Classification
Class
CLASS/Pediatric disorders (ex)
Pathophysiology
Pathophysiology/Chromosome 4 deletion short arm (4p-)
Pathophysiology/Chromosome 4/Monosomy short arm p/partial
Pathophysiology/Chromosome gene/segment deletion (ex)
Pathophysiology/Gene locus/Chromosome 4
Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
Pathophysiology/Maternal Chromosome mutation
Process
PROCESS/Chromosomal disorder (ex)
PROCESS/Congenital/developmental (category)
PROCESS/Eponymic (category)
PROCESS/Eponymic/Esoteric/Not yet integrated into database
PROCESS/Genetic disorder/Spontaneous mutations/sporadic
PROCESS/Hereditary Multiple anomalies syndrome [EX]
PROCESS/Hereditofamilial (category)
PROCESS/INCIDENCE/Esoteric disease (example)
PROCESS/INCIDENCE/Extremely rare disease
PROCESS/Dystostosis/craniofacial (ex)
Synonyms
Synonym
Pitt syndrome (4p16 3), Synonym/4p- syndrome, partial, Synonym/Wolf-Hirschorn chromosome region deletion
Definition

PITT SYNDROME; MENTAL RETARDATION, UNUSUAL FACIES, AND INTRAUTERINE GROWTH RETARDATION;PITT-ROGERS-DANKS SYNDROME; PRDS;closely related to the Wolf-Hirschhorn syndrome (WHS) and like WHS probably involves the deletion of multiple loci on 4p16-3;probe specific for 4p16_3, the Wolf-Hirschhorn region (WHS), revealed microdeletion of 4p16- 3; a deletion of 4p16 that overlapped and extended beyond the WHS critical region in each direction; Thus Pitt and Wolf-Hirschhorn syndromes result from deletion in the same region of 4p16;others argued that the Pitt-Rogers-Danks syndrome is essentially the same as Wolf-Hirschhorn syndrome, ie, a 4p deletion syndrome; clinical synopsis ;Mental retardation; particular facies ; Intrauterine growth retardation; low birth weight for gerstational age; dwarfism; Microcephaly; characteristic facies with Short upper lip; Wide mouth; Prominent eyes; Slanting eyes; Telecanthus; Inheritance; Autosomal recessive-------------(OMIM reference)--------------------

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External Links Related to Pitt syndrome (4p16.3)
Google
Wikipedia
Merck
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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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