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Skip to main content. Genetic conditions. Home Genetic conditions. Cri du chat syndrome. Actions for this page Listen Print. Summary Read the full fact sheet. On this page. Symptoms of cri du chat syndrome Health problems for children with cri du chat syndrome Causes of cri du chat syndrome Severity of cri du chat syndrome varies Treatment for cri du chat syndrome Support for parents of children with cri du chat syndrome Genetic counselling and cri du chat syndrome Where to get help.
Symptoms of cri du chat syndrome Cri du chat syndrome is often diagnosed at birth. The symptoms in a newborn baby can include: a high-pitched, cat-like cry or weak cry low birth weight a small head a rounded face a broad, flattened bridge of the nose eyes spaced wide apart folds of skin over the eyelids abnormalities of the palate, such as an unusually narrow and high palate a receding, small chin malformations of the ears. Health problems for children with cri du chat syndrome Children with cri du chat syndrome commonly experience health problems including: difficulties with suckling and swallowing gastric reflux constipation high rate of infections, such as ear and upper respiratory tract infections poor muscle tone eye problems, such as a squint strabismus.
Other problems, which occur less frequently, include: hearing loss deformities of the skeleton, such as curvature of the spine scoliosis hernias heart and kidney problems. Causes of cri du chat syndrome No one knows what causes the deletion of certain genes on chromosome 5. Severity of cri du chat syndrome varies The severity of the condition can vary. Treatment for cri du chat syndrome There is no cure for cri du chat syndrome.
Treatment aims to stimulate the child and help them to reach their full potential and can include: physiotherapy to improve poor muscle tone speech therapy communication alternatives, such as sign language, since speech is usually delayed, often severely occupational therapy to teach coping strategies and new skills.
Support for parents of children with cri du chat syndrome Support services for parents of children with disabilities include: counselling information referral advocacy support groups.
Genetic counselling and cri du chat syndrome If your child has been diagnosed with cri du chat syndrome, or if it runs in your family, it can be helpful to speak to a genetic counsellor.
Wide-set eyes. Widely spaced eyes. Prenatal growth deficiency. Prenatal growth retardation. Decreased length of neck.
Decreased body height. Small stature. Disproportionately small hands. Joints move beyond expected range of motion.
Increased fracture rate. Increased fractures. Multiple fractures. Multiple spontaneous fractures. Varying degree of multiple fractures. Abnormal kidney. Abnormally shaped ears. Auricular malformation. Deformed ears. Malformed ears. Aggressive behaviour. Absence of overlap of anterior upper and lower teeth. Gap between upper and lower front teeth when biting. Excessive, persistent worry and fear. Clouding of the lens of the eye.
Cloudy lens. Undescended testes. Undescended testis. Deficiency of speech development. Delayed language development. Delayed speech.
Delayed speech acquisition. Delayed speech development. Impaired speech and language development. Impaired speech development. Language delay. Language delayed. Language development deficit. Late-onset speech development. Poor language development. Speech and language delay. Speech and language difficulties. Speech delay. Gap between large left and right abdominal muscles. Difficulty in walking. Downturned corners of the mouth. Downturned mouth.
Echoing another person's speech. Asymmetry of face. Crooked face. Unsymmetrical face. Acid reflux. Acid reflux disease. Delayed growth. Growth deficiency. Growth failure. Growth retardation. Poor growth. Retarded growth. Hearing defect. More active than typical. Mental deficiency. Mental retardation. Mental retardation, nonspecific.
Elongation of face. Increased height of face. Increased length of face. Vertical elongation of face. Vertical enlargement of face. Vertical overgrowth of face. Low set ears. Lowset ears. Front half of foot turns inward. Close sighted. Near sighted. Near sightedness. Decreased breadth of face. Decreased width of face. Low muscle tone, in neonatal onset. Flat feet. Flat foot.
Early graying. Premature graying. Premature greying. Premature hair graying. Prominent brow. Deliberate self-harm. Self mutilation. Poor attention span. Problem paying attention. Shortened long bone of hand. Short long bone of foot. Birth weight less than 10th percentile. Low birth weight. No previous family history. Narrowing of passageway from outer ear to middle ear.
Repetitive movements. Repetitive or self-injurious behavior. Squint eyes. Webbed fingers or toes. Increased volume of lower lip. Other Names for This Condition 5p deletion syndrome 5p- syndrome Cat cry syndrome Chromosome 5p- syndrome Monosomy 5p.
Research Studies from ClinicalTrials. References Cerruti Mainardi P. Cri du Chat syndrome. Orphanet J Rare Dis. Cri du chat syndrome and congenital heart disease: a review of previously reported cases and presentation of an additional 21 cases from the Pediatric Cardiac Care Consortium. Epub Apr 3. The natural history of Cri du Chat Syndrome. A report from the Italian Register. Eur J Med Genet. Epub Jan Clinical and molecular characterisation of 80 patients with 5p deletion: genotype-phenotype correlation.
J Med Genet. Cri du chat syndrome: a critical review. Dev Neurorehabil. Determination of the 'critical region' for cat-like cry of Cri-du-chat syndrome and analysis of candidate genes by quantitative PCR. Eur J Hum Genet.
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