Disease Information for Cri du Chat/Chromosome 5p (5p15.2)

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Clinical Manifestations
Signs & Symptoms
Particular physiognomy/Odd looking kids
Craniofacial Abnormalities/Congenital
Facies particular
Round face
Palm/simian crease (single)
Low birth weight/newborn/SGA/Small for gestational age
Hypotonia
Mental Deficiency Child
Cat like Cry
High-pitched voice
Infant Abnormal Cry/Quality
Stridor (Inspiratory noise)
Stridor infant Child
Dysmorphic appearance/face
Short stature
Short stature Child
Downward sloping eyes/Antimongoloid slant
Epicanthal folds
Clinical Presentation & Variations
Presentation/Multiple deformities newborn (odd look)
Presentation/Kidney malformations Congenital syndrome Child
Disease Progression
Course/Chronic disorder
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)
Maternal MSAFP/Quad test (Inhibin A/HG/UE3/AFP)
Maternal triple test (APF/HG/Estriol) abnormal (labs)
MSAFP test (maternal) abnormal (labs)
Diagnostic Test Results
Other Tests & Procedures
Amniocentesis/Abnormality
Amniocentesis/Chorion villi enzyme assay/abnormal
Associated Diseases & Rule outs
Associated Disease & Complications
Growth retardation/failure
Hypertelorism/Wide Spaced Eyes
Mental retardation
Microcephaly/oligophrenia
Disease Mechanism & Classification
Class
CLASS/Pediatric disorders (ex)
CLASS/Systemic/no comment (category)
Pathophysiology
Pathophysiology/Chromosome gene/segment deletion (ex)
Pathophysiology/Gene locus 5p15.2
Pathophysiology/Gene locus Chromosome 5p
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
5p Deletion Syndrome, 5p Deletion Syndromes, 5P minus (partial) syndrome, 5p minus syndrome, 5p partial monosomy syndrome, 5p partial monosomy syndrome (disorder), 5p syndrome, 5p Syndrome, Chromosome, 5p Syndromes, 5p Syndromes, Chromosome, CAT CRY SYNDROME, cat's cry syndrome, Chromosomal imbalance syndrome, pair 5, deletion, short arm, CHROMOSOME 05 P SYNDROME, chromosome 5 short arm deletion, chromosome 5 short arm deletion syndrome, Chromosome 5p deletion syndrome, chromosome 5p monosomy, Chromosome 5p Syndrome, Chromosome 5p Syndromes, chromosome syndrome, 5 short arm deletion, Cri du Chat Syndrome, Cri du Chat Syndromes, Crying Cat Syndrome, Crying Cat Syndromes, del(5p) syndrome, Deletion 5p syndrome, Deletion of short arm of chromosome 5, Deletion of Short Arm of Chromosome 5 Syndrome, deletion short arm of chromosome 5, DELETION SYNDROME 05P, Deletion Syndrome, 5p, Deletion Syndromes, 5p, Deletn short arm chromosome 5, Lejeune syndrome, Lejeune's syndrome, monosomy 5p, Partial deletion of short arm of chromosome 5 syndrome, partial monosomy 5p, syndrome cat cry, syndrome chromosome, 5 short arm deletion, Syndrome, 5p, Syndrome, 5p Deletion, Syndrome, Chromosome 5p, Syndrome, Cri du Chat, Syndrome, Crying Cat, Syndromes, 5p, Syndromes, 5p Deletion, Syndromes, Chromosome 5p, Syndromes, Cri du Chat, Syndromes, Crying Cat, Synonym/5P (Cat Cry) Syndrome, Synonym/Cat cry syndrome, Synonym/Cri du chat syndrome, Synonym/Lejeune's syndrome
Definition

Cat Cry Syndrome

gene locus 5p15-2; Cat Cry Syndrome; cri-du-chat syndrome is a well-described partial aneusomy resulting from deletion of the short arm of chromosome 5; Hereditary and congenital syndrome associated with deletion of part of the short arm of chromosome 5; The deletions can vary in size from extremely small and involving only band 5p15_2 to the entire short arm; Although the majority of deletions arise as new mutations, approximately 12% result from unbalanced segregation of translocations or recombination in one of the parents (Mutation); Cri-du-chat syndrome is characterized in young children by microcephaly, round face, hypertelorism, micrognathia, epicanthal folds, low-set ears, hypotonia, and severe psychomotor and mental retardation; One of the most characteristic features in newborn children is a high-pitched cat-like cry that is usually considered diagnostic for the syndrome; Although the majority of patients die in early childhood, some survive into adulthood and exhibit an IQ below 20, a loss of hypertelorism and epicanthic folds, and development of a thin, narrow face with prominent nasal bridge; Older patients with 5p deletion syndrome, with ages ranging from 16 to 47 years; Some of the clinical characteristics, such as long face, macrostomia, and scoliosis, became more evident; All patients were severely or profoundly mentally retarded; resembled that of Angelman syndrome;Most patients had periods of destructive behavior, self mutilation, and aggression; Although the voice will naturally lower as the child grows, the characteristic high pitch often persists into adulthood; The size and location of the deletion appears to have some correlation with the severity of effect of the syndrome on the child affected; Babies are often of low birth weight and many require help with feeding in infancy; Feeding difficulties often persist for the first few years with many experiencing reflux and swallowing problems; monotone, weak, cat-like cry; Small head (microcephally) ; High palate; Round face; Small receding chin (micrognathia); Widely spaced eyes (hypertelorism); Low set ears ; Low broad nasal ridge; Folds of skin over the upper eyelid (epicanthic folds); Distinctive palmar creases (creases on the palms of the hands);Problems; Heart defects (commonly Ventral Septal Defects and Atrial Septal Defects and rarely tetralogy of Fallot and endocardial cushion defects) ; Cleft Palate; Kidney abnormalities; hip dislocation and deformities of the feet; Scoliosis; Hernias; Bowel abnormalities; Epilepsy;

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External Links Related to Cri du Chat/Chromosome 5p (5p15.2)
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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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