What Is Crying Cat Syndrome?
Crying cat syndrome is a genetic condition. Also called
cri-du-chat or 5P syndrome, it’s a deletion on the short arm of chromosome 5.
It’s a rare condition, occurring in only about 1 in 20,000 to 1 in 50,000
newborns, according to the Genetics Home
Reference. But it’s one of the more common syndromes caused by chromosomal
“Cri-du-chat” means “cry of the cat” in French. Infants with the
syndrome produce a high-pitched cry that sounds like a cat. The larynx develops
abnormally due to the chromosome deletion. This affects the sound of the
child’s cry. The syndrome is more noticeable as the child ages, but becomes
difficult to diagnose past age 2.
Crying cat also carries many disabilities and abnormalities. A
small percentage of infants with crying cat syndrome are born with serious
organ defects (especially heart or kidney defects) or other life-threatening
complications that can result in death. Most fatal complications occur before
the child’s first birthday.
Children who reach age 1 generally have a normal life
expectancy. But the child will most likely have lifelong physical or
development complications. These complications will depend on the severity of
About about half of children with crying cat syndrome learn
enough words to communicate, and most grow up to be happy, friendly, and
What Causes Crying Cat Syndrome?
The exact reason for the chromosome 5 deletion is unknown. In
most cases, the chromosome break happens while the parent’s sperm or egg cell
is still developing. This means the child develops the syndrome when
According to the Orphanet Journal of Rare Diseases,
the chromosome deletion comes from the father’s sperm in about 80 percent
of cases. The syndrome is not typically inherited, though. Only about 10
percent of cases come from a parent who has a deleted segment, according to the
National Human Genome Research
Institute. About 90 percent are presumed to be random mutations.
You may carry a type of defect called a balanced translocation.
This is a defect in the chromosome that does not result in the loss of genetic
material. However, if you pass the defective chromosome to your child, it may
become unbalanced. This results in the loss of genetic material and can cause
Your unborn child has a slightly increased risk of being born
with the condition if you have a family history of crying cat syndrome.
What Are the Symptoms of Crying Cat
The severity of your child’s symptoms depends on how much
genetic information is missing from chromosome 5. Some symptoms are severe
while others are so minor they may go undiagnosed. The cat-like cry, which is
the most common symptom, becomes less noticeable over time.
Children born with crying cat are commonly small at birth. They
may also experience respiratory difficulties. Besides the namesake cat cry,
other physical features include:
- small chin
- unusually round face
- small bridge of the nose
- folds of skin over their eyes
- abnormally wide-set eyes (ocular or orbital
- abnormally shaped or low-set ears
- a small jaw (micrognathia)
- partial webbing of the fingers or toes
- single line on the palm of the hand
- an inguinal hernia (a protrusion of organs
through a weak area or tear in the abdominal wall)
Internal problems are common in children with the condition.
- skeletal problems like scoliosis (abnormal
curvature of the spine)
- heart or other organ defects
- poor muscle tone (during infancy and childhood)
- hearing and vision difficulties
As they grow, they often experience trouble talking, walking,
and feeding, and can have behavioral problems, such as hyperactivity or
Children also may suffer from severe intellectual disabilities,
but should have an average life expectancy if they don’t experience defects
with major organs or other critical medical conditions.
How Is Crying Cat Syndrome Diagnosed?
The condition is usually diagnosed at birth, based on physical
abnormalities and other signs. Your doctor may perform an X-ray on your child’s
head to detect abnormalities in the base of the skull.
A chromosome test that uses a special technique called a FISH
analysis helps detect small deletions. If you have a family history of crying
cat, your doctor may suggest a chromosome analysis or genetic testing while
your child is still in the womb. Your doctor can either test a small sample of
tissue from outside the sac where your child develops, (known as chorionic
villus sampling) or test a sample of amniotic fluid.
How Is Crying Cat Syndrome Treated?
There is no specific treatment for crying cat syndrome. You can
help manage symptoms with physical therapy, language and motor skill therapy,
and education intervention.
Can You Prevent Crying Cat Syndrome?
There is no known way to prevent crying cat syndrome. Even if
you don’t display symptoms, you may be a carrier if you have a family history
of the syndrome. You should consider getting a genetic test.
Crying cat syndrome is so rare, it’s unlikely to have a second
child with the condition.