Cri-du-chat syndrome

There are two reasons that infants with Cri-du-chat syndrome are thought to have a cat-like cry. The first reason has to do with the shape of the airway. The larynx (the tube connecting the mouth to the lungs) can be small and shaped like a diamond in individuals with Cri-du-chat syndrome. Additionally, the epiglottis (the flap that covers the airway when swallowing food or water) can be small and weak. These physical changes in the airway may contribute to the cat-like cry typical in infants with Cri-du-chat syndrome.

Additionally, it is thought that differences in the brain of individuals with Cri-du-chat syndrome may cause the person to not make a typical crying sound.

Since Cri-du-chat syndrome usually occurs for the first time in the affected individual, rather than being inherited from a parent, it may not be necessary to test anyone else in the family to determine if they are affected or not unless other individuals have concerning symptoms. However, approximately 15% of individuals with Cri-du-chat syndrome have a parent with a chromosome rearrangement that may increase the likelihood of Cri-du-chat syndrome or another chromosome rearrangement in that person’s children. In order for a family to be given information about the chances of recurrence in another child once one child has been diagnosed with Cri-du-chat syndrome, the parents of a child with Cri-du-chat syndrome should be offered genetic testing, typically through a blood test. This will determine if one of the parents has a rearrangement in their genetic material (translocation) that could make it more likely that a subsequent child might also have Cri-du-chat syndrome.

You may first want to ask your healthcare team if they know of resources or support groups in your area. You can also join online support groups who can connect you with other families who have a family member with Cri-du-chat syndrome. Some groups are:

Individuals with Cri-du-chat syndrome should receive regular primary care through a pediatrician, family doctor or other primary care physician. Individuals with Cri-du-chat syndrome may also benefit from evaluation by a medical geneticist and genetic counseling. A medical geneticist may be able to help ensure that an individual with Cri-du-chat syndrome is seen by all of the appropriate specialists. A medical geneticist can be found by asking your doctor for a referral or looking on the American College of Medical Geneticists website . Genetic counselors in the United States can be found on the National Society of Genetic Counselors website. Genetic counselors in Canada can be found at the Canadian Association of Genetic Counselors website.
The specific specialists an individual with Cri-du-chat syndrome should see is somewhat dependent on the specific symptoms an individual has. For example, a child with difficulty feeding as a newborn may benefit from therapy intervention in the first few weeks of life. Some individuals with Cri-du-chat syndrome may have hearing loss and would benefit from seeing an audiologist. It is recommended that all individuals with Cri-du-chat syndrome receive early intervention services in the form of physical, occupational and speech therapy services as appropriate, as well as receive whatever educational support is available through school to maximize a child’s developmental and learning potential.

The treatment in Cri-du-chat syndrome is symptomatic, aimed at treating whatever symptoms or health problems an individual person experiences. In addition to regular primary care, an individual with Cri-du-chat syndrome should be monitored for possible health problems associated with Cri-du-chat syndrome, including:

Cri-du-chat syndrome can be abbreviated as CdCS.

Speech therapy for children with Cri-du-chat syndrome can include answering simple questions, identifying pictures, and a variety of other exercises to improve communication. Some individuals with Cri-du-chat syndrome benefit from augmentative and alternative communication (AAC). This means using an electronic device to help communicate with others.

Cri-du-chat syndrome is a genetic disorder that is caused by a deletion (missing piece) of chromosome number 5. In French, Cri-du-chat means "cats-cry", and this condition is characterized by infants having a very distinct sound to their cry, reminiscent of the cry of a cat. Additionally, individuals with Cri-du-chat syndrome typically have slower than normal development (developmental delay), and severe learning difficulties. Children with Cri-du-chat syndrome are usually small at birth, have a smaller than normal head size (microcephaly) and may have specific facial features (known as dysmorphic features), such as a small chin (micrognathia) and a wide upper nose. Babies with Cri-du-chat syndrome can sometimes be born with problems in their heart, kidneys, and brain. Infants with Cri-du-chat syndrome may require breathing treatment shortly after birth for respiratory problems. Individuals with Cri-du-chat syndrome may also have muscle weakness (hypotonia). This muscle weakness may also affect the ability of a baby with Cri-du-chat syndrome to eat properly (trouble with nursing or bottlefeeding).

Children with Cri-du-chat syndrome should receive specialized care starting from the time of recognition of symptoms or diagnosis of the syndrome. This should include early interventional therapies such as speech, occupational and physical therapy, which will help children with Cri-du-chat syndrome reach their fullest developmental potential.

Children with Cri-du-chat syndrome are expected to remain small compared to their peers, including a small head size (microcephaly). Individuals with Cri-du-chat syndrome may also have a long, narrow face, abnormal dentition (abnormal bite), crossed eyes (strabismus), short stature, and early graying of the hair. As individuals with Cri-du-chat syndrome age, they may develop tightness/stiffness to their muscles, known as hypertonia.

There are a variety of less common symptoms that have only been seen in a few individuals with Cri-du-chat syndrome, including seizures and elastic skin.

As many as 10% of babies born with Cri-du-chat syndrome die in the first year of life.

Individuals and families with questions about a known or suspected diagnosis of Cri-du-chat syndrome may benefit from an evaluation by a medical geneticist and genetic counseling. A medical geneticist can be found by asking your doctor for a referral or looking on the American College of Medical Geneticists website . Genetic counselors in the United States can be found on the National Society of Genetic Counselors website. Genetic counselors in Canada can be found at the Canadian Association of Genetic Counselors website.

Some babies with Cri-du-chat syndrome develop breathing problems after birth and require respiratory treatment. Signs of breathing problems may include difficulty or irregular breathing and/or the skin turning blue. Because infants with Cri-du-chat syndrome tend to have weak or floppy muscles (known as hypotonia), they may have difficulty taking a bottle or breastfeeding. Some babies with Cri-du-chat syndrome are born with problems in their heart, kidneys, and brain. In the first year of life, many babies with Cri-du-chat syndrome will develop infections in their intestines and/or lungs. Individuals with Cri-du-chat syndrome may experience difficulty eating and/or reflux in childhood. Problems with the eyes can also occur, including cataracts (eye clouding) and myopia (only being able to see objects close to the face).

If infants or children with Cri-du-chat syndrome require surgery, careful monitoring related to being put to sleep (anesthesia) is indicated. Some individuals with Cri-du-chat syndrome have changes in the shape of their airway which makes giving anesthesia more difficult.

Individuals with Cri-du-chat syndrome should receive routine primary care. There are publications in the medical literature regarding health supervision recommendations for individuals with Cri-du-chat syndrome, and individuals and families with Cri-du-chat syndrome may benefit from consultations with a medical geneticist and genetic counseling. A medical geneticist can be found by asking your doctor for a referral or looking on the American College of Medical Geneticists website . Genetic counselors in the United States can be found on the National Society of Genetic Counselors website. Genetic counselors in Canada can be found at the Canadian Association of Genetic Counselors website.

Cri-du-chat syndrome is caused by a deletion of part of chromosome number 5, meaning that a piece of the chromosome, and the genes that part of the chromosomes contains, are missing. Genetic information is organized in our cells on structures called chromosomes. Most cells in the body typically contain 46 chromosomes, which are organized into 23 pairs of 2. Babies inherit one of each pair of chromosomes from each of their parents in the egg and sperm cells.

Individuals with Cri-du-chat syndrome are missing a piece of one of their two chromosome number 5s. The other chromosome 5 is typically intact. However, having the deletion (missing piece of chromosome) on one of the two copies of chromosome 5 present in the cells is sufficient to cause the health and developmental problems seen in Cri-du-chat syndrome (known as autosomal dominant inheritance). Having only one copy of the genetic information typically found on that part of chromosome number 5, instead of the typical two, causes an imbalance of genetic information in the body, which leads to the health and developmental problems people with Cri-du-chat syndrome may have.

Cri-du-chat syndrome is caused by having missing genetic information, called a deletion. Genetic information is organized in our cells on structures called chromosomes. Most cells in the body typically contain 46 chromosomes, which are organized into 23 pairs of 2. Babies inherit one of each pair of chromosomes from each of their parents in the egg and sperm cells. The first 22 pairs of chromosomes are numbered 1-22 and are referred to as autosomes, whereas the 23rd pair of chromosomes consists of the sex chromosomes, which determine gender (XX for females and XY for males).

Cri-du-chat syndrome is caused by a deletion (missing piece of chromosome) near the end of chromosome 5. The genetic information that is missing on this part of chromosome 5 causes the health and developmental problems people with Cri-du-chat may have.

Individuals with Cri-du-chat syndrome are usually small before and at birth and have a small head (microcephaly). Cri-du-chat syndrome causes a set of distinct (dysmorphic) facial features, possibly including a round face, widely-spaced eyes, folds over the inside corner of the eye (epicanthic folds), small chin (micrognathia), ears that are positioned lower on the head than typically seen, and a down-turned mouth. At birth, the most striking feature of Cri-du-chat syndrome is typically a cry that sounds like a cat. Babies with Cri-du-chat syndrome can be born with problems in their heart, kidneys, and brain, although this is uncommon.

Infants with Cri-du-chat syndrome may require respiratory treatment if they are unable to breathe properly. It is common for newborns with Cri-du-chat syndrome to have weak or floppy muscles (hypotonia), and so they may have trouble taking a bottle or breastfeeding.

Children with Cri-du-chat syndrome are expected to remain smaller than their peers, including having a small head (microcephaly). Individuals with Cri-du-chat may develop a long, narrow face, an eye problem known as strabismus (in which the two eyes do not line up properly), abnormal dentition (an abnormal bite), short stature, and early graying of the hair. Other problems with the eyes can also happen, including cataracts (eye clouding) and myopia (only being able to see objects close up, known as nearsightedness). As individuals with Cri-du-chat age, their muscles may become tight and stiff (hypertonia). There are other less common health problems that have only been seen in a few people with Cri-du-chat syndrome, including seizures and elastic (stretchy) skin.

Individuals and families who have questions about Cri-du-chat syndrome, including the symptoms typically seen and the natural history of the disorder, may benefit from consultation with a medical geneticist and genetic counseling. A medical geneticist can be found by asking your doctor for a referral or looking on the American College of Medical Geneticists website . Genetic counselors in the United States can be found on the National Society of Genetic Counselors website. Genetic counselors in Canada can be found at the Canadian Association of Genetic Counselors website.

Cri-du-chat, in French, means "cry of the cat". The "cat-cry" sound typical in newborns with Cri-du-chat syndrome is very characteristic of this condition and may be an important clue in diagnosis.

No, as 2019, Cri-du-chat syndrome is not a condition that is tested for in routine newborn screening. The genetic testing which would detect Cri-du-chat syndrome is only routinely done in individuals when there is reason to suspect the possibility of a chromosome change, either because of the individual’s health or development or family history.

If there is reason to suspect that a baby has Cri-du-chat syndrome or another chromosome change, genetic testing would be an option at any age.

The specific conditions included in the general population newborn screening are determined by individual states. More information about newborn screening, including which disorders are included in the newborn screening panel in a particular state, is available at http://www.babysfirsttest.org.

For the most up to do information about research studies related to Cri-du-chat syndrome, please visit clinicaltrials.gov and search "Cri-du-chat". Other resources for current research include the following.

In Europe, the EU Clinical Trial Register performs a similar service.
To learn about clinical trials sponsored by private sources, you can contact www.centerwatch.com

The Cri-du-chat Research Foundation also maintains a registry related to research.

Unfortunately, there is no treatment for the chromosome deletion that causes Cri-du-chat syndrome, and so Cri-du-chat syndrome cannot be cured. However, many of the symptoms of Cri-du-chat syndrome can be treated. In addition to regular primary care, individuals with Cri-du-chat syndrome should be seen by whichever specialists are relevant to whatever symptoms a given affected individual has. A medical geneticist or another physician familiar with Cri-du-chat syndrome can help ensure that the appropriate specialists are involved in the care of an individual with Cri-du-chat syndrome. A medical geneticist can be found by asking your doctor for a referral or looking on the American College of Medical Geneticists website .

It is extremely important for individuals with Cri-du-chat syndrome to receive early intervention services at as young an age as possible to address the developmental problems that are often present in Cri-du-chat syndrome. Regular, intensive interventions such as physical, occupational and speech therapy, plus any school supportive services for which an individual qualifies are critical to help maximize a child’s development and learning. Individuals with Cri-du-chat syndrome often have behavioral, learning and developmental problems, including meeting developmental milestones later than peers. Individuals with Cri-du-chat syndrome who are able to get help with these skills early in life normally have better developmental and learning outcomes than those who do not.

Other physical symptoms of Cri-du-chat syndrome can also be treated. For example, if a child with Cri-du-chat syndrome is born with a heart problem, he or she may require surgery and/or medication and have ongoing follow-up with a cardiologist. Just after birth, babies with Cri-du-chat syndrome may experience breathing problems and require respiratory treatment. Children with Cri-du-chat syndrome may have vision problems and should be evaluated by ophthalmology as needed. Some individuals with Cri-du-chat syndrome require glasses for vision correction, while others require eye surgery for conditions such as strabismus (eyes not aligning properly).

Some people with Cri-du-chat syndrome experience skeletal problems, such as a curved spine (scoliosis) or flat foot (pes planus) and may benefit from evaluation or treatment by an orthopedist. People with Cri-du-chat syndrome may have hernias that may require surgery to correct, and/or separation of the muscles of the abdomen that may need special exercises to treat.

Deletion (missing piece) of a specific region near the end of chromosome 5 causes Cri-du-chat syndrome. No other factor is necessary in order to be affected with Cri-du-chat syndrome.

If your child has Cri-du-chat syndrome his or her doctor should be familiar with the specific set of symptoms and health problems affecting your child, and ensure that your child is managed by the appropriate medical specialists. This often involves evaluation by a medical geneticist and genetic counseling.

It is important for doctors caring for individuals with Cri-du-chat syndrome to know that anesthesia (pain management during surgery) can be challenging to manage in people with Cri-du-chat syndrome because of possible differences in their airway. In the first year of life, respiratory (lung) and intestinal (gut) infections are common in children with Cri-du-chat syndrome. Their doctor should be aware of these symptoms and help monitor for infections and treat as appropriate. The doctor should expect that the child with Cri-du-chat syndrome may have developmental and/or learning problems and be able to refer to interventional services such as physical, occupational and speech therapy as appropriate.

If the cause of Cri-du-chat syndrome is due to a translocation (rearrangement of genetic material) in one of the parents, there is no way to impact the chances of recurrence of Cri-du-chat syndrome in a pregnancy conceived naturally. Prenatal screening and testing for Cri-du-chat syndrome is available starting around the end of the first trimester of pregnancy, at the parents’ discretion.

However, the likelihood of a parent with a translocation having another child with Cri-du-chat syndrome can be reduced if the parents consider in vitro fertilization (IVF) with pre-implantation genetic diagnosis (PGD). IVF involves taking an egg from the mother and fertilizing it with sperm from the father in the laboratory. PGD can be performed prior to transferring embryos back to the womb to determine which embryos have chromosome imbalances and which have normal chromosomes. The parents may choose to have only embryos that are chromosomally normal transferred into the womb of the mother.

Parents who are interested in more information about IVF and PGD may benefit from a consultation with a reproductive endocrinologist.

Another way to reduce the chance of having a child with Cri-du-chat syndrome is for parents to choose to use an egg or sperm donor in place of the eggs or sperm cells of the parent with the translocation. A reproductive endocrinologist or other fertility specialist could help a family interested in exploring these options.

In approximately 85% of individuals with Cri-du-chat syndrome, the chromosome deletion occurred as a new event in the formation of the egg or sperm used in the conception of that child (referred to as de novo), as opposed to being inherited from a parent. In the additional approximately 15% of individuals with Cri-du-chat syndrome, a parent, while unaffected with Cri-du-chat syndrome, may have a chromosome rearrangement (translocation) that predisposes the chromosome deletion that causes Cri-du-chat syndrome in the child. To determine the chance of recurrence of Cri-du-chat in a subsequent child after a couple has had one child with Cri-du-chat syndrome, it is important to determine if either of the parents carry a chromosome rearrangement such as a translocation which can predispose a chromosome change such as Cri-du-chat syndrome in a child.

When an individual is affected with Cri-du-chat syndrome as a result of a de novo event, the chance that another child in the same family would also have Cri-du-chat syndrome is fairly low (<1%). When a parent carries a chromosome translocation or other rearrangement that may predispose to Cri-du-chat syndrome, the risk of recurrence in a future child may be much higher. Depending on the specific chromosome rearrangement in the parent, the risk for recurrence in a future child has been reported to be as high as 20%.

Families who would like more information about the genetics of Cri-du-chat syndrome, their recurrence risks for Cri-du-chat syndrome in a future pregnancy, and/or a discussion about their reproductive options may benefit from genetic counseling. Genetic counselors in the United States can be found on the National Society of Genetic Counselors website. Genetic counselors in Canada can be found at the Canadian Association of Genetic Counselors website.

Cri-du-chat syndrome is considered a rare disorder. About 1:15,000 to 1:50,000 live-born infants have Cri-du-chat syndrome.

Approximately 10% of children with Cri-du-chat syndrome die in the first year of life from complications of Cri-du-chat syndrome. However, most individuals with Cri-du-chat syndrome live into adulthood. There are adults with Cri-du-chat syndrome in the medical literature who have been reported to live over the age of fifty. With better treatments available to treat some of the symptoms of Cri-du-chat syndrome, the life expectancy for individuals with Cri-du-chat syndrome may further improve.

Cri-du-chat syndrome is caused by a deletion (missing genetic information) on a part of a chromosome. Genetic information is organized in the cells of the body on structures called chromosomes. Each chromosome consists of a "short arm", referred to as "p", and a "long arm", referred to as "q". Most cells in the body typically have 46 chromosomes which are organized into 23 pairs of 2. The first 22 pairs of chromosomes, which are numbered 1-22, are the same in males and females and are called autosomes. The 23rd pair of chromosomes is called the sex chromosomes and are what determine gender (XX for female and XY for male). An individual receives one chromosome from each pair from each parent at the time of conception. This means that everyone has two copies of all of the genetic information found on chromosomes 1-22, with one copy coming from each parent.

Cri-du-chat syndrome is caused by a deletion near one of the ends of one copy of chromosome 5 (called the "p" arm). The other chromosome 5 in the pair does not have the deletion. However, only having one copy of the genetic information typically found on that area of chromosome 5 in an individual’s cells (because of the deletion on the other chromosome), causes the health and developmental problems people with Cri-du-chat may have.

In about 85% of individuals with Cri-du-chat syndrome the deletion on chromosome 5 is new in the child who has the syndrome, meaning that neither parent has Cri-du-chat syndrome. When a genetic change happens for the first time in a child it is called a "de novo" event. De novo events are caused by sporadic (chance) changes in either the sperm or egg that created the child. If parents have a child with Cri-du-chat syndrome resulting from a de novo change, the chance that they would have another child with the same syndrome is low (<1%).

In the remainder of cases (approximately 15%), a parent may have a translocation or other rearrangement of their genetic material. A translocation is when a portion of one chromosome attaches to another chromosome and ends up in an unexpected location. If a parent has a translocation, they have all their genetic material present, but in a rearranged form. When a parent with a translocation passes on their genetic material to their children in the egg or sperm cell, the translocation may lead to an imbalance (extra or missing genetic information) in the combination of chromosomes present in the egg or sperm. A translocation in a parent can, in some cases, lead to an increased likelihood for children of that parent to have an imbalance of genetic material in their cells, including Cri-du-chat syndrome. If a child has Cri-du-chat syndrome as a result of a parental translocation, the chance that the parent with the translocation would have another child with Cri-du-chat is increased. The specific risk depends on the translocation. However, there have been reports of risks as high as about 20% for Cri-du-chat syndrome to recur in a second child in a family as a result of a parent having a translocation.

Families who would like more information about the genetics of Cri-du-chat syndrome, their recurrence risks for Cri-du-chat syndrome in a future pregnancy, and/or a discussion about their reproductive options may benefit from genetic counseling. Genetic counselors in the United States can be found on the National Society of Genetic Counselors website. Genetic counselors in Canada can be found at the Canadian Association of Genetic Counselors website.

Chromosomes are the organizational structures of genes, which contain the instructions that direct the body how to grow and develop. Chromosomes can be compared to a set of books, such as an encyclopedia, and genes are like the chapters within the books. Individuals with Cri-du-chat syndrome have a deletion of genetic information on a part of chromosome 5. This can be compared to having multiple pages/whole chapters missing from a book. The larger the deletion, the more information is missing. In general, the larger the deletion an individual has, the more symptoms of Cri-du-chat syndrome may be expected. While individuals with larger deletions might generally be predicted to have a greater "severity" in their symptoms, variability in the size of the deletion does not explain all of the variability of symptoms from one individual with Cri-du-chat syndrome to another. Even individuals with apparently identical deletions are expected to be affected somewhat differently from one another.

You can donate through the Cri-du-chat Research Foundation at the following link: http://www.criduchatresearch.org/donate

If you would like to donate to support families with individuals with Cri-du-chat syndrome, this can be done through the 5p Minus Society at this link: http://www.fivepminus.org/Donate

Cri-du-chat syndrome is caused by having missing genetic information, known as a deletion, on a specific area of chromosome 5. If a person has symptoms that raise the suspicion of Cri-du-chat syndrome, or another chromosome disorder, a medical geneticist or other physician familiar with these conditions may order one or more of a few types of genetic tests, typically done on a blood sample, but also able to be performed on saliva, skin or other tissue.

One genetic test able to diagnosis Cri-du-chat syndrome is called a chromosome analysis, or karyotype. In a karyotype, the chromosomes in a cell are chemically treated in a specific way, and then the chromosomes are visualized, counted and arranged into their pairs. Extra or missing whole chromosomes, or extra or missing pieces of a certain size can be detected by karyotype analysis.

Sometimes the chromosome 5 deletion that causes Cri-du-chat syndrome is smaller than what can be detected by karyotype analysis (similar to degree of resolution of a photograph, with some parts of what was photographed being too small to be seen in detail in the photo). A specialized test known as FISH analysis (fluorescent in situ hybridization) may be used to detect a chromosome deletion too small to be detected by a chromosome analysis. FISH for Cri-du-chat syndrome is a specific test to detect only a deletion in the relevant area of chromosome 5, and so this condition must be suspected clinically in order for this test to be ordered. FISH uses specially prepared colored probes that only attach to a specific area of a chromosome. If the probe specific to the chromosome region that is missing in Cri-du-chat syndrome is added to a sample from an individual with Cri-du-chat, then the probe will only attach to one chromosome 5, not both, since the area the probe would normally attach too is missing on one chromosome 5 in the person with Cri-du-chat syndrome. The colored probes can be visualized and counted under a microscope, and a Cri-di-chat syndrome deletion can be detected by absence of a FISH probe attached to both chromosome number 5s in a cell.

Finally, a test called array comparative genomic hybridization, or chromosome microarray analysis, may also be used to diagnose Cri-du-chat syndrome in an individual. In chromosome microarray analysis, a sample is analyzed for areas of deletions (missing genetic material) and duplications (extra genetic material) all along the 23 pairs of chromosomes found in a cell. If an individual with Cri-du-chat syndrome has a chromosome microarray analysis performed, the deletion that causes Cri-du-chat syndrome would be found.

Karyotype analysis, FISH and chromosome microarray analysis are all available through many hospitals and commercial laboratories across the country. A medical geneticist or another physician familiar with this testing could order the most appropriate genetic test for a given individual/family.

No, there is nothing that makes the symptoms of Cri-du-chat syndrome worse. However, an affected child’s development can be maximized with help from an early age, such as physical, occupational, and speech therapy.

Not all individuals with Cri-du-chat syndrome are affected in exactly the same ways or have all of the characteristics described with Cri-du-chat syndrome.

There is a typical area on chromosome 5p, which, when deleted, is expected to result in an individual having features of Cri-du-chat syndrome. However, not all individuals with Cri-du-chat syndrome have the exact same piece of chromosome 5 missing. Scientists are learning about the role of some of the genes in this region on chromosome 5 and, depending on whether those specific genes are included or not included in the deletion in a given person, are sometimes able to make predictions about which feature(s) of Cri-du-chat syndrome may be found in that individual (this is called genotype-phenotype correlation).

In general, the larger a given individual’s deletion is, the more symptoms of Cri-du-chat syndrome that person may be predicted to have. Larger deletions may generally be predicted to lead to more "severity" of symptoms and health problems. However, even if two people have the same size deletion as each other, they may have different symptoms. This is called variable expression.

Individuals with Cri-du-chat syndrome may not have children as a result of developmental, behavioral or social problems. However, individuals with Cri-du-chat syndrome may have normal fertility, and if an individual with Cri-du-chat syndrome has a child, the chance of recurrence in that child is 50%. There has been a report in the medical literature of a person with Cri-du-chat having a child.

Children with Cri-du-chat syndrome attend school. However, children with Cri-du-chat are expected to have learning and/or behavioral difficulties. School age children with Cri-du-chat syndrome may require special education support to maximize their educational potential.

Early intervention is a system of services that helps babies and toddlers with developmental delays or disabilities. Most children with Cri-du-chat syndrome would benefit from starting early intervention before a year of age. Your child’s healthcare team will be able to help you connect with services that your child needs.

To learn more general information about early intervention, please visit the Center for Parent Information and Resources through the U.S. Department of Education at http://www.parentcenterhub.org/repository/ei-overview/.

Cri-du-chat syndrome can also be called Cat Cry syndrome, 5p- (pronounced "minus") syndrome, Lejeune syndrome, and chromosome 5p deletion syndrome.

There are online support groups for people with Cri-du-chat syndrome and their families. One such group is called 5p Minus Society and can be found at: http://www.fivepminus.org

There is another group called the Cri-du-chat Support Group of Australia that offers resources and support. The link is: https://criduchat.org.au/

There are a variety of other support groups that may be helpful for individuals with Cri-du-chat syndrome and their families. A list of other organizations that may be helpful can be found at: http://www.criduchat.org/index.php/resources/organizations/

Genetic counselors are often able to inform families of good local, regional, national and online resources for genetic conditions including Cri-du-chat syndrome. The National Society of Genetic Counselors website has a searchable "Find a Genetic Counselor" directory to help locate genetic counseling services throughout the United States and Canada.

All individuals with Cri-du-chat syndrome are missing a piece of chromosome 5 (chromosome deletion). In approximately 85% of individuals with Cri-du-chat syndrome, their deletion occurred for the first time in them as a new event (de novo), as opposed to being inherited from a parent. In the additional approximately 15% of individuals with Cri-du-chat syndrome, a parent, while unaffected with Cri-du-chat syndrome, may have a chromosome rearrangement (translocation) that predisposes the chromosome deletion that causes Cri-du-chat syndrome in the child.

When an individual is affected with Cri-du-chat syndrome as a result of a de novo event, the chance that another child in the same family would also have Cri-du-chat syndrome is fairly low (<1%). When a parent carries a chromosome translocation or other rearrangement that may predispose to Cri-du-chat syndrome, the risk of recurrence in a future child may be much higher. Depending on the specific chromosome rearrangement in the parent, the risk for recurrence in a future child has been reported to be as high as 20%.

Families who would like more information about the genetics of Cri-du-chat syndrome, their recurrence risks for Cri-du-chat syndrome in a future pregnancy, and/or a discussion about their reproductive options may benefit from genetic counseling. Genetic counselors in the United States can be found on the National Society of Genetic Counselors website. Genetic counselors in Canada can be found at the Canadian Association of Genetic Counselors website.

Not all individuals with Cri-du-chat syndrome are affected in the same way, and not all affected individuals develop all of the symptoms that may be part of Cri-du-chat syndrome. Some of this variability between individuals with Cri-du-chat syndrome may be caused by differences in the size of the specific deletion (missing piece) of chromosome 5. Individuals with larger deletions have more genes missing and may be more severely affected than individuals with smaller deletions and therefore fewer genes missing. Some, but not all, of the variation between individuals affected with Cri-du-chat syndrome may be explained by this.

Some studies show that children with Cri-du-chat syndrome tend to be loving and gentle. Approximately half of children with Cri-du-chat syndrome have symptoms of increased activity, called hyperactivity. Some children with Cri-du-chat syndrome have a tendency to be clumsy and/or sensitive to sounds. Others may have an attachment to certain objects like toys, and repeat particular movements over and over. Early intervention programs help children learn to manage their behaviors. Children who are enrolled in early intervention programs can often manage their own behavior better than those who do not have these services.

Some of the features typically seen in individuals with Cri-du-chat syndrome are commonly found in other conditions as well (not specific to Cri-du-chat syndrome). However, the characteristic "cat-like" cry of the newborn is very specific to Cri-du-chat syndrome. Taken together, the characteristics typically found in individuals with Cri-du-chat syndrome leads to this syndrome being specifically suspected by a medical geneticist or other physician familiar with Cri-du-chat syndrome. Once suspected, it can then be confirmed with genetic testing.

One other genetic syndrome, also the result of a chromosome deletion (missing a piece of a chromosome, but a different one than Cri-du-chat), called Wolf-Hirschhorn syndrome, has some clinical features in common with Cri-du-chat. Cri-du-chat syndrome and Wolf-Hirschhorn syndrome can be easily differentiated by genetic testing.

If you are interested in learning more about the availability of genetic services in your area, you can ask your primary care physician for a referral. A medical geneticist can be found by asking your doctor for a referral or looking on the American College of Medical Geneticists website . Genetic counselors in the United States can be found on the National Society of Genetic Counselors website. Genetic counselors in Canada can be found at the Canadian Association of Genetic Counselors website.

The International Cri Du Chat has sponsored awareness activities for Cri-du-Chat syndrome. Some activities include virtual 5k and social media campaigns. For more information about current awareness activities contact International Cri Du Chat.