10 Cat's Cry Syndrome FAQs
Article Sources
- 1. ’Cri-du-chat syndrome.’ Genetic and Rare Disease Information Center. www.rarediseases.info.nih.gov/diseases/6213/cri-du-chat-syndrome
- 2. ’Cri du chat syndrome.’ Mount Sinai Hospital. mountsinai.org/health-library/diseases-conditions/cri-du-chat-syndrome
- 3. ’Cri du Chat syndrome.’ Raising Children. www.raisingchildren.net.au/guides/a-z-health-reference/cri-du-chat-syndrome
Cat's cry syndrome is a rare genetic disorder that affects growth and development. Its alternate name, 5p minus syndrome, refers to the affected genetic chromosome. It may also be referred to as Lejeune syndrome, after the physician who first described it in 1963, who named it cri du chat syndrome. The exact number of cases is unknown, but it's thought to appear in about one out of every 15,000 to 50,000 births.1’Cri-du-chat syndrome.’ Genetic and Rare Disease Information Center. www.rarediseases.info.nih.gov/diseases/6213/cri-du-chat-syndrome
A syndrome is defined as a collection of conditions found in one disease, and Cat's cry syndrome has numerous expected symptoms.
What Is Cat's Cry Syndrome?
Cat's cry syndrome, also known as cri du chat syndrome, is more common in females than males. It occurs across all ethnicities, and while it's genetic, it's not caused by a hereditary familial gene defect, in most cases, but occurs randomly. It's initially identified by the newborn infant's cry, which resembles the sound of a cat's high-pitched mewl.1’Cri-du-chat syndrome.’ Genetic and Rare Disease Information Center. www.rarediseases.info.nih.gov/diseases/6213/cri-du-chat-syndrome
Most cat's cry syndrome cases are believed to arise during the formation of the egg or sperm or in early embryo development. Sometimes, a parent passes a distinct form of the affected chromosome. The disease may be diagnosed before birth with genetic testing.2’Cri du chat syndrome.’ Mount Sinai Hospital. mountsinai.org/health-library/diseases-conditions/cri-du-chat-syndrome
What Causes Cat's Cry Syndrome?
In cat's cry syndrome, a specific part of a chromosome, known as 5p, gets randomly deleted. Symptoms vary depending on the exact location and size of the missing piece.
While this is a genetic disease, in most cases it isn't hereditary because it's not passed down through generations of families. There's currently no identified reason why part of the chromosome is deleted or changed, but it appears to occur before conception or shortly after.1’Cri-du-chat syndrome.’ Genetic and Rare Disease Information Center. www.rarediseases.info.nih.gov/diseases/6213/cri-du-chat-syndrome
What Does Cri du Chat Syndrome Look Like?
At birth, the physical symptoms of cat's cry syndrome may include a small head size and low birth weight. As a child grows, facial characteristics may become noticeable, such as unusual-looking, low-set ears, a shortened space between the top lip and the nose and widely spaced eyes. Skin tags may appear on the face, which is round with full cheeks.
Less common physical signs are a downturned mouth, cleft lip or cleft palate and short fingers atop a palm with only one crease.1’Cri-du-chat syndrome.’ Genetic and Rare Disease Information Center. www.rarediseases.info.nih.gov/diseases/6213/cri-du-chat-syndrome
What Are Other Physical Symptoms?
Children with cat's cry syndrome may experience feeding difficulties and have trouble breathing because of weak muscle tone. Curvature of the spine, called scoliosis, may occur. About 15 to 20 percent of cat's cry syndrome patients have heart defects requiring surgery soon after birth.
Inguinal or groin hernias may occur, along with dislocated hips and kidney malformations. Some children have difficulty holding their heads up, and in late childhood, facial distortions worsen.1’Cri-du-chat syndrome.’ Genetic and Rare Disease Information Center. www.rarediseases.info.nih.gov/diseases/6213/cri-du-chat-syndrome Many other symptoms and conditions are possible, although they may be rare.
What Neurological Symptoms Occur With Cat's Cry Syndrome?
Moderate to severe intellectual disability is a common neurological symptom of cat's cry syndrome. Developmental delay occurs in almost all babies and children with the disease, who sometimes accomplish the same tasks as normal children, but much later.
These children rarely dress or feed themselves until they are well out of toddlerhood, and to meet their slowed learning ability, they need special educational strategies. Children with cat's cry syndrome are typically easy-going and friendly, but they may also exhibit sudden aggressive outbursts.1’Cri-du-chat syndrome.’ Genetic and Rare Disease Information Center. www.rarediseases.info.nih.gov/diseases/6213/cri-du-chat-syndrome
What Specialists Are Involved in the Child's Care?
Cat's cry syndrome requires access to specialists who can help manage symptoms. A medical geneticist can confirm the disease. Families may also need a behavioral or developmental specialist to guide them through an understanding of the disease's impact on the family, as well as address the child's potential behavioral problems.
Physical, occupational and speech therapists may assist in maximizing the child's potential development, and an ear, nose and throat doctor may help with hearing loss and difficulty swallowing. A primary care physician coordinates services.1’Cri-du-chat syndrome.’ Genetic and Rare Disease Information Center. www.rarediseases.info.nih.gov/diseases/6213/cri-du-chat-syndrome
How Is Cri du Chat Diagnosed?
At birth, the newborn's mewling cry may alert clinicians to possible cat's cry syndrome. Further examination may identify common symptoms of the disorder, such as a cleft lip or palate, feeding and breathing issues, excessive drooling and facial characteristics.1’Cri-du-chat syndrome.’ Genetic and Rare Disease Information Center. www.rarediseases.info.nih.gov/diseases/6213/cri-du-chat-syndrome
Genetic testing can help reach a confirmed diagnosis and predict symptoms and ailments that are likely to arise. Physical tests may be done to identify underlying conditions in a cri du chat child, such as heart malformations and weak muscle tone, and determine their extent.
What Is the Treatment for Cat's Cry Syndrome?
There's no remedy for cat's cry syndrome. Instead, care is focused on managing symptoms, underlying conditions and complications. For instance, a speech therapist may work on language development and pronunciation, while an ear, nose and throat clinician addresses hearing issues. A speech therapist may also teach safe swallowing.
A newborn may require surgery to repair a cleft palate or lip or a congenital heart defect called patent ductus arteriosus. Scoliosis usually responds well to spinal surgery, and inguinal hernia repair is common.
How Does a Cri du Chat Child Affect the Family?
Parental time is immersed in caring for a cri du chat child. Parents need to take care of themselves as well. Caring for the child requires parents to be physically and mentally fit. There are organizations and support groups that may help parents stay balanced and healthy.
Siblings may feel less important as parents devote time and energy to managing the child with cat's cry syndrome. It's important to talk with them, spend time with them, and find the right support for them, too.3’Cri du Chat syndrome.’ Raising Children. www.raisingchildren.net.au/guides/a-z-health-reference/cri-du-chat-syndrome
What Is the Prognosis?
If the cri du chat child survives past the first year, the prognosis is good, with the chance of survival rising with each passing year. About 90 percent of deaths occur within the first year, but survivors may live to be 50 years old or older.
Many cat's cry syndrome patients have severe mental and developmental deficiencies, further affecting their survival and quality of life. Even for patients with supportive, capable families, cri du chat may require some form of institutional intervention.2’Cri du chat syndrome.’ Mount Sinai Hospital. mountsinai.org/health-library/diseases-conditions/cri-du-chat-syndrome
