Concept information
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Genetic Diseases, Inborn
Chromosome Disorders
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Congenital Abnormalities
Chromosome Disorders
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Congenital Abnormalities
Abnormalities, Multiple
Nervous System Diseases
Neurologic Manifestations
Neurobehavioral Manifestations
Intellectual Disability
Preferred term
Cri-du-Chat Syndrome
Type
-
mesh:Descriptor
Definition
- An infantile syndrome characterized by a cat-like cry, failure to thrive, microcephaly, MENTAL RETARDATION, spastic quadriparesis, micro- and retrognathia, glossoptosis, bilateral epicanthus, hypertelorism, and tiny external genitalia. It is caused by a deletion of the short arm of chromosome 5 (5p-).
Broader concept
Entry terms
- 5p Deletion Syndrome
- 5p Minus Syndrome
- 5p- Syndrome
- Cat Cry Syndrome
- Chromosome 5p Deletion Syndrome
- Chromosome 5p- Syndrome
- Chromosome 5 Short Arm Deletion Syndrome
- Crying Cat Syndrome
- Deletion of Short Arm of Chromosome 5 Syndrome
Allowable Qualifier(s)
- blood (Qualifier)
- cerebrospinal fluid (Qualifier)
- chemically induced (Qualifier)
- classification (Qualifier)
- complications (Qualifier)
- diagnosis (Qualifier)
- diagnostic imaging (Qualifier)
- diet therapy (Qualifier)
- drug therapy (Qualifier)
- economics (Qualifier)
- embryology (Qualifier)
- enzymology (Qualifier)
- epidemiology (Qualifier)
- ethnology (Qualifier)
- etiology (Qualifier)
- genetics (Qualifier)
- history (Qualifier)
- immunology (Qualifier)
- metabolism (Qualifier)
- microbiology (Qualifier)
- mortality (Qualifier)
- nursing (Qualifier)
- parasitology (Qualifier)
- pathology (Qualifier)
- physiopathology (Qualifier)
- prevention & control (Qualifier)
- psychology (Qualifier)
- radiotherapy (Qualifier)
- rehabilitation (Qualifier)
- surgery (Qualifier)
- therapy (Qualifier)
- urine (Qualifier)
- veterinary (Qualifier)
- virology (Qualifier)
In other languages
-
French
-
Syndrome de délétion du bras court du chromosome 5
-
Syndrome de délétion du chromosome 5p
-
Syndrome de Lejeune
-
Syndrome du cri du chat
URI
http://data.loterre.fr/ark:/67375/JVR-LS9LF2W0-C
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