Cri du chat syndrome

Cri du chat syndrome is a rare genetic disorder due to a partial chromosome deletion on chromosome 5. Its name is a French term ("cat-cry" or "call of the cat") referring to the characteristic cat-like cry of affected children (sound sample ). It was first described by Jérôme Lejeune in 1963. The condition affects an estimated 1 in 50,000 live births across all ethnicities and is more common in females by a 4:3 ratio. The syndrome gets its name from the characteristic cry of affected infants, which is similar to that of a meowing kitten, due to problems with the larynx and nervous system. About one third of children lose the cry by age of 2 years. Other symptoms of cri du chat syndrome may include: feeding problems because of difficulty in swallowing and sucking; mutism; low birth weight and poor growth; severe cognitive, speech and motor disabilities; behavioural problems such as hyperactivity, aggression, outbursts and repetitive movements; unusual facial features, which may change over time; excessive drooling; small head (microcephaly) and jaw (micrognathism); widely-spaced eyes (hypertelorism); skin tags in front of ears. Other common findings include hypotonia, a round face with full cheeks, epicanthal folds, down-slanting palpebral fissures (eyelids), strabismus, flat nasal bridge, down-turned mouth, low-set ears, short fingers, single palmar creases and cardiac defects (e.g., ventricular septal defect [VSD], atrial septal defect [ASD], patent ductus arteriosus [PDA], tetralogy of Fallot). Infertility is not associated with Cri du chat. It has also been observed that people with the condition have difficulties communicating. While levels of proficiency can range from a few words to short sentences, it is often recommended by medical professionals for the child to undergo some sort of speech therapy/aid with the help of a professional. Less frequently encountered findings include cleft lip and palate, preauricular tags and fistulas, thymic dysplasia, intestinal malrotation, megacolon, inguinal hernia, dislocated hips, cryptorchidism, hypospadias, rare renal malformations (e.

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Altered cortical thickness development in 22q11.2 deletion syndrome and association with psychotic symptoms

Maude Schneider, Marie Schaer, Daniela Maria Zöller, Maria Carmela Padula

Schizophrenia has been extensively associated with reduced cortical thickness (CT), and its neurodevelopmental origin is increasingly acknowledged. However, the exact timing and extent of alterations occurring in preclinical phases remain unclear. With a h ...

2021

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Disruptions of white matter microstructure have been widely reported in schizophrenia. However, the emergence of these alterations during preclinical stages remains poorly understood. 22q11.2 Deletion Syndrome (22q11.2DS) represents a unique model to study ...

SPRINGERNATURE2020

Dynamic organization of human brain function and its relevance for psychosis vulnerability

Daniela Maria Zöller

The brain is the substrate of a complex dynamic system providing a remarkably varied range of functionalities, going from simple perception to higher-level cognition. Disturbances in its complex dynamics can cause an equally vast variety of mental disorder ...

EPFL2019

Medical genetics

Medical genetics is the branch of medicine that involves the diagnosis and management of hereditary disorders. Medical genetics differs from human genetics in that human genetics is a field of scientific research that may or may not apply to medicine, while medical genetics refers to the application of genetics to medical care. For example, research on the causes and inheritance of genetic disorders would be considered within both human genetics and medical genetics, while the diagnosis, management, and counselling people with genetic disorders would be considered part of medical genetics.

Fluorescence in situ hybridization

Fluorescence in situ hybridization (FISH) is a molecular cytogenetic technique that uses fluorescent probes that bind to only particular parts of a nucleic acid sequence with a high degree of sequence complementarity. It was developed by biomedical researchers in the early 1980s to detect and localize the presence or absence of specific DNA sequences on chromosomes. Fluorescence microscopy can be used to find out where the fluorescent probe is bound to the chromosomes.

Aneuploidy

Aneuploidy is the presence of an abnormal number of chromosomes in a cell, for example a human cell having 45 or 47 chromosomes instead of the usual 46. It does not include a difference of one or more complete sets of chromosomes. A cell with any number of complete chromosome sets is called a euploid cell. An extra or missing chromosome is a common cause of some genetic disorders. Some cancer cells also have abnormal numbers of chromosomes. About 68% of human solid tumors are aneuploid.

Chromosome Variation BIO-373: Genetics and genomics

Explores variations in chromosome numbers and structure, including deletions, duplications, inversions, and translocations.

Chromosome 7: Trisomy Correction Mechanisms BIO-109: Introduction to life sciences (for IC)

Explores trisomy correction mechanisms, mosaicism, and genetic disorder diagnosis challenges.

Small Molecule Drugs: Genetic Diseases CH-317: Drug discovery and development

Delves into the molecular basis of genetic diseases, discussing specific examples like Phenylketonuria and Haemophilia A, and the development of small molecule drugs for genetic disorders.