Disease Information for Chromosome 4p-syndrome

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Clinical Manifestations
Signs & Symptoms
Particular physiognomy/Odd looking kids
Beaked nose/congenital
Broad flat nose/facies
Craniofacial Abnormalities/Congenital
Facies particular
Greek helmet dysmorphia
Prominent Nose
Poor weight gain/child
Uvula anomaly/deformity
Hypotonia
Mental Deficiency Child
Seizures
Dysmorphic dwarfism/short stature
Dysmorphic appearance/face
Short stature
Short stature Child
Epicanthal folds
Low set ears/congenital
Low set/odd position ears
Clinical Presentation & Variations
Presentation/Multiple deformities newborn (odd look)
Disease Progression
Course/Chronic disorder
Course/Chronic only
Course/Lethal
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)
Chromosomal abnormality (Lab)
DNATest specific/genetics laboratory/abnormality (Lab)
Specific Single Nucleotide Polymorphism/SNIP genome type
Diagnostic Test Results
Other Tests & Procedures
Amniocentesis/Abnormality
Amniocentesis/Chorion villi enzyme assay/abnormal
Associated Diseases & Rule outs
Associated Disease & Complications
Atrial septal defect
Cleft Lip
Cleft lip/deformity
Cleft palate/deformity
Coloboma
Congenital heart disease
Convulsions (grand mal)
Cryptorchidism
Dwarfism
Fetal anomaly
Growth retardation/failure
Hypertelorism/Wide Spaced Eyes
Hypospadius anomaly
Mental retardation
Microcephaly/oligophrenia
Micrognathia/congenital small chin
Nanism/dwarfism
Preauricula fissure/congenital
Ventricular septal defect
Disease Mechanism & Classification
Class
CLASS/Pediatric disorders (ex)
CLASS/Systemic/no comment (category)
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 4p16.3
Pathophysiology/Gene locus Chromosome 4p
Pathophysiology/Gene locus/Chromosome 4
Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
Pathophysiology/CTSA (Cathepsin A) Gene Mutation
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
4p Deletion Syndrome, 4p syndrome, chromosome 4p deletion syndrome, chromosome 4p monosomy, del(4p) syndrome, monosomy 4p, partial monosomy 4p, WHS, WOLF HIRSCHHORN SYNDROME, Wolf Hirschhorn syndrome (WHS), Wolf syndrome, Synonym/4p- syndrome, partial, Synonym/WHCR, Synonym/WHS, Synonym/Wolf syndrome, Synonym/Wolf-Hirschorn chromosome region deletion
Definition

Wolf Hirschhorn Syndrome; 4p- Syndrome, Partial; Chromosome 4, Partial Deletion 4p; Chromosome 4, Partial Monosomy 4p;

Partial Deletion of the Short Arm of Chromosome 4; WHCR;

WHS; Wolf Syndrome; Wolf-Hirschhorn Chromosome Region (WHCR)

Disorder;Wolf-Hirschorn syndrome (4p16.3)

Wolf-Hirschhorn syndrome is an extremely rare chromosomal disorder caused by a partial deletion (monosomy) of the short arm ("p") of chromosome 4; Major symptoms may include extremely wide-set eyes (ocular hypertelorism) with a broad or beaked nose, a small head (microcephaly), low-set malformed ears, mental and growth deficiency, heart (cardiac) defects, and seizures. Because the amount of genetic material deleted varies, the symptoms of this syndrome vary from case to case. [NORD 2005]--------------------------------

chromosome 4p deletion syndrome;Partial deletion of the short arm of chromosome 4 with severe psychomotor deficiency and abnormalities of the craniofacial structures, heart, kidneys, and other organs; The most common defects include asymmetric skull, microcephaly, high forehead, beaked nose, hypertelorism, epicanthal folds, and prominent glabella; The phenotype of proximal interstitial deletion (del4p15) differs from that in the Wolf-Hirschhorn syndrome and is characterized by distinct facies, multiple minor congenital anomalies, psychomotor retardation and normal growth; Deletion 4p15-16 is expressed in a different phenotype which includes long face, midface hypoplasia, upslanted palpebral fissures, epicanthal folds, large beaked nose, highly arched palate, thick lower lip, micrognathia, broad and short neck, broad hands and feet, tall and thin habitus, delayed growth and mental development, and hypotonia;

Synonyms:Wolf syndrome; Wolf-Hirschhorn syndrome (WHS);

4p- syndrome; 4p deletion syndrome; del(4p) syndrome.

Listed in OMIM in the autosomal dominant catalog, but most cases are believed to be sporadic; Deletion 4p16 is believed to be sufficient for the full expression of this syndrome; Some cases show a de novo terminal deletion 4p15, 4p15.3-pter, 4p16.1-pter, and p416.3;

[JABLONSKI MCA/MR website 2005]-----------------------------------------------

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External Links Related to Chromosome 4p-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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