Cri du chat syndrome in Grand Rapids, Michigan

Cri du chat syndrome is a rare genetic condition caused by a missing piece of genetic material on chromosome 5 (often called 5p minus). In some children, material from another chromosome may also be missing. It is estimated to affect roughly 1 in 25,000–50,000 births.

In Grand Rapids and across West Michigan, children with cri du chat syndrome can receive coordinated care through major health systems such as Corewell Health (formerly Spectrum Health), Trinity Health Grand Rapids, Metro Health – University of Michigan Health, and Mercy Health, as well as support from local public health resources.

What is cri du chat syndrome?

Chromosomes carry our genes, which determine inherited traits such as eye color and many aspects of growth and development. In cri du chat syndrome, a segment of chromosome 5 is missing. This loss affects certain genes that are important for early brain and body development.

The condition is also known as:

  • Cat-cry syndrome
  • 5p minus (5p–) syndrome
  • Lejeune’s syndrome

The name “cri du chat” (French for “cry of the cat”) comes from the distinctive, high‑pitched cry many newborns with this condition have.

With more advanced and frequent genetic testing now available in Michigan and nationwide, milder cases are being identified more often, which is why current estimates suggest the condition may be closer to 1 in 25,000 births.

Symptoms of cri du chat syndrome

Symptoms in newborns

Cri du chat syndrome is often suspected at birth or soon after. Common signs in a newborn can include:

  • A high‑pitched, cat‑like cry or very weak cry
  • Low birth weight
  • Small head size (microcephaly)
  • Rounded face
  • Broad, flattened bridge of the nose
  • Eyes spaced widely apart
  • Folds of skin over the inner corners of the eyes
  • Malformations of the ears (unusual shape, low-set ears)
  • Abnormalities of the palate, such as a very narrow or high-arched palate
  • Small, receding chin

Because many Michigan babies are born during colder months, some early feeding or breathing concerns may be more noticeable during respiratory virus season in Grand Rapids. For any newborn with unusual crying, feeding difficulty, or breathing issues, prompt evaluation at local hospitals such as Helen DeVos Children’s Hospital (part of Corewell Health) is important.

Ongoing health problems in children

Children with cri du chat syndrome can experience a range of health challenges, including:

  • Difficulties with suckling and swallowing
  • Gastroesophageal reflux (spitting up, discomfort with feeds)
  • Constipation
  • Frequent infections, especially:
    • Ear infections
    • Upper respiratory tract infections (colds, sinus infections)
  • Poor muscle tone (hypotonia), which can delay sitting, crawling, and walking
  • Hearing loss
  • Eye problems, such as a squint (strabismus)
  • Skeletal differences, such as curvature of the spine (scoliosis)
  • Hernias
  • Less commonly, heart or kidney problems

In West Michigan, seasonal changes—especially cold, damp winters and long indoor heating seasons—can increase the risk of respiratory infections. Children with cri du chat syndrome may need extra monitoring during flu and RSV season and may benefit from care with a pediatrician familiar with complex conditions.

What causes cri du chat syndrome?

Chromosome 5 deletion

Cri du chat syndrome is caused by a deletion (missing piece) on the short arm of chromosome 5 (called 5p). This deletion removes certain genes that are important for brain development, growth, and facial features.

Why does the deletion happen?

In most cases:

  • The deletion occurs spontaneously when the egg or sperm is formed, or very early after conception.
  • There is no family history and nothing the parents did or did not do to cause it.

For couples with normal chromosomes, the chance of having another child with cri du chat syndrome is around 1%.

In some families:

  • One parent has a chromosomal rearrangement involving chromosome 5 (such as a balanced translocation).
  • This parent is usually healthy but has an increased chance of having a child with cri du chat syndrome.

Because of this, genetic counselling is strongly recommended for families in Grand Rapids who have a child with cri du chat syndrome or a known chromosome 5 rearrangement.

How severe is cri du chat syndrome?

The severity of cri du chat syndrome can vary widely:

  • Mildly affected children

    • May reach developmental milestones such as walking and talking closer to typical ages
    • Often still need speech therapy and educational support

  • Moderately affected children (most cases)

    • Have moderate intellectual disability
    • Experience speech delay (often significant)
    • May have motor delays but usually learn to walk, often before age six
    • May have some ongoing health problems

  • Severely affected children

    • May have profound intellectual disability
    • May never walk or talk independently
    • Often have multiple medical complications and a shorter life expectancy

It is impossible to predict at birth exactly how mildly or severely a baby with cri du chat syndrome will be affected. The picture becomes clearer over time as the child grows and develops.

Diagnosis of cri du chat syndrome in Grand Rapids

Cri du chat syndrome is often suspected based on physical features and the characteristic cry. Diagnosis is confirmed with genetic testing, such as:

  • Chromosomal microarray
  • Karyotype
  • FISH (fluorescence in situ hybridization) targeting the 5p region

These tests are available through major Grand Rapids health systems, including:

  • Corewell Health – Helen DeVos Children’s Hospital
  • Trinity Health Grand Rapids
  • Metro Health – University of Michigan Health

Prenatal diagnosis

If there is a known family history or an abnormal screening test, prenatal diagnosis may be offered. This can include:

  • Chorionic villus sampling (CVS) – usually done in the first trimester
  • Amniocentesis – typically performed in the second trimester

These procedures examine fetal cells to look for a chromosome 5 deletion. Your obstetrician or maternal–fetal medicine specialist in Grand Rapids can refer you for these tests and for genetic counselling.

Treatment and support for cri du chat syndrome

There is no cure for cri du chat syndrome. Treatment focuses on helping each child reach their full potential, manage health issues, and support the family.

Therapies and interventions

Children in Grand Rapids with cri du chat syndrome may benefit from:

  • Physiotherapy (physical therapy)

    • Improves muscle tone, balance, and coordination
    • Helps with sitting, standing, and walking

  • Occupational therapy (OT)

    • Builds fine motor skills (grasping, feeding, dressing)
    • Teaches coping strategies and adaptive skills for daily activities
    • Recommends equipment or home modifications if needed

  • Speech and language therapy

    • Helps with feeding and swallowing early on
    • Supports communication skills, including:
      • Spoken language
      • Sign language
      • Picture communication systems or communication devices

Because speech is often significantly delayed, early and consistent speech therapy is especially important.

In Michigan, many of these services are available through:

  • Early On® Michigan for children from birth to age 3
  • Local school districts and Kent ISD for preschool and school-aged children
  • Pediatric therapy programs at Grand Rapids hospitals and rehabilitation centers

Medical care and monitoring

Children with cri du chat syndrome should have regular follow‑up with:

  • A pediatrician familiar with developmental conditions
  • Specialists as needed, such as:
    • Pediatric cardiologist (heart)
    • Nephrologist (kidneys)
    • Orthopedist (bones and spine)
    • Ophthalmologist (eyes)
    • Audiologist (hearing)

In Grand Rapids, these specialists are available through major health systems and children’s hospitals. During Michigan’s cold and flu season, extra attention to respiratory infections, vaccinations, and preventive care is especially important.

Genetic counselling in Grand Rapids, MI

If your child has been diagnosed with cri du chat syndrome—or if it runs in your family—speaking with a genetic counsellor can be very helpful.

Genetic counsellors are trained in both genetics and counselling. They can:

  • Explain what cri du chat syndrome is and what causes it
  • Discuss how it is inherited and your risk of having another affected child
  • Review genetic testing options for you and other family members
  • Help you understand prenatal testing choices if you are planning a pregnancy
  • Provide emotional support and connect you with local and national resources

In the Grand Rapids area, genetic counselling services are available through:

  • Corewell Health (Spectrum Health) Clinical Genetics
  • Trinity Health Grand Rapids
  • University of Michigan Health – West (Metro Health)
  • Referrals from your primary care provider or obstetrician

You can also contact the Kent County Health Department or Grand Rapids Public Health for information on local referral options and family support programs.

Support for parents and caregivers in Grand Rapids

Raising a child with cri du chat syndrome can bring unique joys and challenges. Many families find it helpful to connect with others who understand their experience.

Support options include:

  • Counselling

    • Individual or family counselling for stress, adjustment, and coping
    • Often available through local mental health providers and hospital social work departments

  • Information and education

    • Written materials, care plans, and workshops from local hospitals
    • Guidance from your child’s therapy and school teams

  • Advocacy and community resources

    • Help navigating special education services through your local school district or Kent ISD
    • Assistance accessing state and federal benefits for children with disabilities

Local and regional resources

  • Your Grand Rapids pediatrician or family doctor
  • Kent County Health Department – information on early intervention, immunizations, and child health programs
  • Michigan Family-to-Family Health Information Center – support for families of children with special health care needs
  • Genetic Support Network of Michigan (GSNM) – statewide support and information for families affected by genetic conditions
  • National cri du chat syndrome support organizations (online communities, helplines, and educational materials)

Ask your care team at Corewell Health, Trinity Health Grand Rapids, Metro Health, or Mercy Health for up‑to‑date local contact information and support group details.

Key points about cri du chat syndrome

  • Cri du chat syndrome is a rare genetic disorder caused by a deletion on chromosome 5 (5p).
  • Newborn symptoms can include a high‑pitched, cat‑like cry, low birth weight, small head size, facial differences, and ear malformations.
  • No one knows exactly why the deletion occurs in most cases; it usually happens spontaneously, without any family history.
  • The risk of a couple with normal chromosomes having another child with cri du chat syndrome is about 1%.
  • The severity varies widely—from mild learning challenges to profound intellectual disability and serious health problems.
  • There is no cure, but early physiotherapy, occupational therapy, speech therapy, and medical care can greatly improve quality of life.
  • Genetic counselling is important for families in Grand Rapids, both for understanding the diagnosis and for planning future pregnancies.

If you live in the Grand Rapids, MI area and have concerns about your child’s development or a possible genetic condition, contact your pediatrician or family doctor for an evaluation and referral to local genetics and therapy services.