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# Cri-du-chat syndrome (5p deletion)

A missing piece of chromosome 5. Babies have a high, cat-like cry, a small head, weak muscles and intellectual disability.

Updated 2026-11-01

## Structures involved

Tap one to see what it is and open it in 3D.

- [Vocal folds](https://durgical.com/en/anatomy/vocal-fold/)
- [Cricoid cartilage](https://durgical.com/en/anatomy/cricoid-cartilage/)
- [Epiglottis](https://durgical.com/en/anatomy/epiglottis/)
- [Thyroid cartilage](https://durgical.com/en/anatomy/thyroid-cartilage/)
- [Mandible](https://durgical.com/en/anatomy/mandible/)
- [Auricle](https://durgical.com/en/anatomy/auricle/)

## Why it happens

- [Chromosome abnormalities: number and structure](https://durgical.com/en/general-pathology/chromosome-abnormalities-number-and-structure/)

## What it is

A chromosomal disorder caused by deletion of part of the short arm of chromosome 5 (5p-). It is named for the high-pitched, mewing cry of affected newborns and causes microcephaly, characteristic facial features, hypotonia and intellectual disability.

## Who gets it

About 1 in 20,000 to 50,000 newborns, slightly more frequent in girls, in all populations. It is one of the most common deletion syndromes.

## Causes

- Terminal or interstitial deletion of 5p (5p15 critical region), mostly de novo, usually on the paternal chromosome
- About 10 to 15% come from a balanced translocation in a parent
- Loss of genes such as CTNND2 is linked to more severe intellectual disability

## Risk factors

- Parent carrying a balanced translocation involving 5p
- Most cases occur without risk factors

## Pathophysiology

Loss of genes in the 5p15 region disrupts brain development and growth. The characteristic cry is attributed to abnormal laryngeal development (a small, narrow, diamond-shaped larynx with a floppy [epiglottis](https://durgical.com/en/anatomy/epiglottis/)) together with central [nervous system](https://durgical.com/en/anatomy/system/nervous-system/) factors. Larger deletions generally cause more severe disability.

## Symptoms and signs

- High-pitched, monotonous cat-like cry in infancy, which usually fades with age
- Low birth weight, microcephaly and poor growth
- Round face in infancy, hypertelorism, epicanthal folds, low-set ears, micrognathia, broad nasal bridge
- Hypotonia in infancy, later hypertonia in some children
- Feeding and swallowing difficulties
- Severe intellectual disability and speech delay; hyperactivity and repetitive behaviors
- Congenital heart defects in some children; single palmar crease

## Red flags

- Choking or aspiration during feeds
- Breathing difficulty or stridor from laryngeal anomalies
- Signs of heart failure from an associated heart defect
- Poor weight gain and dehydration

## Diagnosis

**Clinical**
Suspected in a newborn with the characteristic cry, microcephaly and facial features.

**Tests**
Karyotype may show larger deletions; chromosomal microarray or FISH detects smaller ones and defines size. Parental chromosome studies to look for a balanced translocation.

**Imaging**
Echocardiogram for heart defects; other imaging (renal ultrasound, brain imaging) according to findings. Laryngoscopy if airway problems.

## Differential diagnosis

- Other chromosomal syndromes (Down syndrome, trisomy 18, 4p deletion or Wolf-Hirschhorn syndrome)
- Laryngomalacia or vocal cord anomalies with an abnormal cry
- Congenital microcephaly from infection or other causes

## Goal of treatment

Support feeding, development and communication, treat associated malformations, and help the family plan care and future pregnancies.

## Treatment

**Rehabilitation**
Early intervention with physical, occupational and speech therapy; alternative communication systems such as signs or pictures.

**Conservative**
Feeding support and positioning to reduce aspiration, tube feeding when needed; behavioral support for hyperactivity and self-injury.

**Surgical**
Surgical correction of congenital heart defects or other malformations when indicated.

**Follow-up**
Regular follow-up of growth, hearing, vision, teeth, scoliosis and development; genetic counseling for parents.

## Complications

- Aspiration pneumonia and respiratory infections
- Failure to thrive
- Scoliosis
- Severe communication limitation and behavioral problems
- Complications of associated heart defects

## Prognosis

Most deaths occur in the first year, mainly from heart defects, pneumonia or feeding problems; beyond infancy life expectancy is close to normal. Most adults need lifelong support, although many learn to walk and communicate.

## Prevention

- Genetic counseling and prenatal diagnosis for families with a parental balanced translocation

## Test yourself

Think of the answer, then tap the question to see it.

## Which chromosome region is deleted in cri-du-chat syndrome?

The short arm of chromosome 5 (5p-).

## What is the hallmark sign in the newborn?

A high-pitched, cat-like cry, together with microcephaly and hypotonia.

## Which test should be offered to the parents after diagnosis?

Parental chromosome studies to look for a balanced translocation, which raises recurrence risk.

## Which heart defects are seen in some affected children?

Ventricular septal defect, patent ductus arteriosus and other congenital heart defects.

[Add to my cards (4)](https://durgical.app/estudiar/?add=/en/conditions/cri-du-chat-syndrome/)

## Related conditions

- [Down syndrome (trisomy 21)](https://durgical.com/en/conditions/down-syndrome/)
- [Trisomy 18 (Edwards) and trisomy 13 (Patau)](https://durgical.com/en/conditions/trisomy-18-and-trisomy-13/)
- [Williams syndrome](https://durgical.com/en/conditions/williams-syndrome/)
- [Autism spectrum disorder (ASD)](https://durgical.com/en/conditions/autism-spectrum-disorder/)
- [Ventricular septal defect](https://durgical.com/en/conditions/ventricular-septal-defect/)
- [Patent ductus arteriosus](https://durgical.com/en/conditions/patent-ductus-arteriosus/)
- [Failure to thrive (faltering growth)](https://durgical.com/en/conditions/failure-to-thrive/)
- [Scoliosis](https://durgical.com/en/conditions/scoliosis/)

Educational information, not medical advice. For any symptom, see a health professional.

Sources: [Cri-du-chat syndrome](https://medlineplus.gov/genetics/condition/cri-du-chat-syndrome/) (MedlinePlus Genetics (U.S. National Library of Medicine), 2024).

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Source: https://durgical.com/en/conditions/cri-du-chat-syndrome/
License: CC BY 4.0 (https://creativecommons.org/licenses/by/4.0/). Cite as: DurgiPedia (durgical.com), https://durgical.com/en/conditions/cri-du-chat-syndrome/