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

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
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
Population/Pediatrics population
Sex & Age Groups
Population/Child-Infant Only
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/Chorion villi enzyme assay/abnormal
Associated Diseases & Rule outs
Associated Disease & Complications
Growth retardation/failure
Hypertelorism/Wide Spaced Eyes
Mental retardation
Disease Mechanism & Classification
CLASS/Pediatric disorders (ex)
CLASS/Systemic/no comment (category)
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/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)
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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;


External Links Related to Cri du Chat/Chromosome 5p (5p15.2)
PubMed (National Library of Medicine)
NGC (National Guideline Clearinghouse)
Medscape (eMedicine)
Harrison's Online (accessmedicine)
NEJM (The New England Journal of Medicine)