Cri-Du-Chat
(Cry of the Cat)
By: Emily Renteria
Genetic Disorder:
• Cri-du-chat syndrome is caused by a
deletion of the end of the short arm of
chromosome 5.
Chromosome Graphic:
Symptoms/ Effects:
•
•
•
•
•
•
•
•
•
•
•
•
Cry that is high-pitched and
sounds like a cat
Downward slant to the eyes
Low birth weight and slow
growth
Low-set or abnormally shaped
ears
Mental retardation
Partial webbing or fusing of
fingers or toes
Single line in the palm of the
hand
Skin tags just in front of the
ear
Slow or incomplete development
of motor skills
Small head
Small jaw
Wide-set eyes
•
•
•
•
Feeding problems because of
difficulty swallowing and sucking
Severe cognitive, speech, and
motor delays
Behavior problems such as
hyperactivity, aggression,
tantrums, and repetitive
movements
Unusual facial features which
may change over time
Diagnosis:
• Mental retardation is usual. Half of
children with Cri du chat syndrome learn
sufficient verbal skills to communicate.
The cat-like cry becomes less apparent
over time.
Prognosis:
• The first year, the survival expectation is
high and morbidity is low. The mortality was
about 10%, 75% of which occurred during the
first months, and up to 90% within the first
year. Among the cases described in this
study, three patients have lived to be over 50
years of age.
Treatment:
• No specific treatment is available for this syndrome.
The mental retardation must be addressed, and
counseling is recommended for the parents. Parents
of a child with this syndrome should have genetic
counseling and a karyotype test to determine if one
parent has a rearrangement of chromosome 5.
Current Research:
• Updated data have been reported in a recent
study on the natural history of CdCS in a
large series of Italian patients. Recent
improvements in management of patients with
CdCS, with the application of rehabilitative
programs, have led to increased psychomotor
development, improved autonomy and better
social adaptation.
(“CdCS” – Cri-du-chat Syndrome)
Genetic Counseling:
The following genetic tests may be appropriate based on
there personal and/or family history.
• Testing for parents (blood draw)
– Chromosome analysis
• Prenatal testing for a pregnant woman
– Amniocentesis
– Chorionic villus sampling (CVS)
2nd Graphics:
Great Story: Joel.
Joel was born 4 weeks early, on 12 Feb. 2002, weighing only 1.63kg. He was breathing well,
feeding well, and he had this a little cry that made him sound like a little lost kitten. during
his hospital stay – at about 2 weeks old – that Joel was diagnosed with Cri Du Chat
Syndrome. Factors such as his low birth weight, his simian creases on both hands, and of
course his distinctive cat-like cry first alerted his doctors to the fact that he may have CDC,
and chromosome testing confirmed their suspicions.
By about 6 months of age Joel was enrolled in and attending playgroup at our local Special
Education Development Unit (SEDU). He has been seeing speech, physio, and
occupational therapists since he was a little over one year old. Joel also has swimming
lessons, not only for his own safety, but to help with his strength and coordination.
Joel first sat up independently at 15 months, pulled to stand at 16 months, “cruised” holding
on to furniture at 19 months, and started climbing onto the furniture at 20 months old. He
crawled from about 1 year of age, and crawled properly at 18 months.
Credits:
• http://rarediseases.about.com/cs/criduchatsynd/a/0
10704.htm
• http://health.nytimes.com/health/guides/disease/cri
-du-chat-syndrome/overview.html
• http://www.ghr.nlm.nih.gov/condition/cri-du-chatsyndrome#genes
• http://www.ncbi.nlm.nih.gov/pmc/articles/PMC157430
0/
• http://www.criduchat.asn.au/criduchat/joel.htm