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Disease Information for Pitt syndrome (4p16.3)
- 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)
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- Course/Chronic disorder
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- Population Group
- Child
- Population/Pediatrics population
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- 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
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- PROCESS/Chromosomal disorder (ex)
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- PROCESS/Dystostosis/craniofacial (ex)
- Synonyms
- Synonym
- Pitt syndrome (4p16 3), Synonym/4p- syndrome, partial, Synonym/Wolf-Hirschorn chromosome region deletion
- Definition
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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)
- Wikipedia
- Merck
- Images
- 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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