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What is Cri-du-Chat Syndrome? What Are the Treatment Options?

May 05th, 2023 | by Ella Reilly

Ella Reilly

May 05th, 2023

What is Cri-du-Chat Syndrome?

Cri-du-chat syndrome, also known as 5p- syndrome, is a rare genetic disorder. Cri-du-chat syndrome occurs in an estimated 1 in 20,000 to 50,000 newborns.

What is the Cause of Cri du Chat Syndrome?

Cri-du-chat syndrome is caused by a missing section on a particular chromosome known as Chromosome 5. This chromosomal change is written as 5p-. The size of the deletion varies among affected individuals.

What Are Some Characteristics in Children With Cri du Chat Syndrome?

The severity of the condition can vary- some children are only mildly affected, and reach their developmental milestones, such as walking and talking while other children can be more severely affected.

The disorder is characterized by:

  • A high-pitched cry that sounds like that of a cat.
  • Intellectual disability
  • Delayed development
  • Small head size (microcephaly)
  • Low birth weight
  • Weak muscle tone
  • Distinctive facial features, including widely set eyes (hypertelorism), low-set ears, a small jaw, and a rounded face
  • Difficulties with suckling and swallowing
  • Deformities of the skeleton, such as curvature of the spine (scoliosis)

What Are Some Treatment Options for Cri du Chat Syndrome?

There is no cure, but transdisciplinary treatment can help the child to reach their full potential. Occupational therapy may focus on improving upper body function, fine motor skills, posture and coordination to learn new skills and participate in day-to-day activities such as dressing and eating. Physiotherapy might focus on improving muscle tone, developing muscle strength and endurance and walking with adaptive devices. Speech and language pathology can address different ways of communicating and swallowing impairments.

About NAPA Centre 

In this blog, NAPA paediatric therapist discusses cri-du-chat syndrome causes, characteristics, and treatment options. Learn more.NAPA specialises in working with children with physical and neurological delays. In addition to working with children with more common diagnoses such as cerebral palsy and Down syndrome, NAPA has a special interest and expertise with children with rare, multiple and complex conditions. NAPA Centre’s Intensive Model of Therapy (IMOT) is world-renowned, and one of the leading clinics in Australia for paediatric therapy programs with a large multi-discliplinary team of Occupational Therapists, Physiotherapists and Speech Therapists all working together. Families routinely travel from all parts of Sydney, the NSW region, from across Australia and even from the Australasian region to access NAPA’s unique and effective programs for their children.

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