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Cri du chat syndrome
Chromosome 5p deletion syndrome; 5p minus syndrome; Cat cry syndrome
Cri du chat syndrome is a group of symptoms that result from missing a piece of chromosome number 5. The syndrome's name is based on the infant's cry, which is high-pitched and sounds like a cat.
Chromosome
Chromosomes are structures found in the center (nucleus) of cells that carry long pieces of DNA. DNA is the material that holds genes. It is the bu...
Causes
Cri du chat syndrome is rare. It is caused by a missing piece of chromosome 5.
Most cases are believed to occur during the development of the egg or sperm. A small number of cases occur when a parent passes a different, rearranged form of the chromosome to their child.
Symptoms
Symptoms include:
- Cry that is high-pitched and may sound like a cat
- Downward slant to the eyes
- Low birth weight and slow growth
-
Low-set or abnormally shaped ears
Low-set or abnormally shaped ears
Low-set ears and pinna abnormalities refer to an abnormal shape or position of the outer ear (pinna or auricle).
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Intellectual disability
Intellectual disability
Intellectual disability is a condition diagnosed before age 18 that includes below-average intellectual function and a lack of skills necessary for d...
Read Article Now Book Mark Article - Partial webbing or fusing of fingers or toes
- Single line in the palm of the hand
- Skin tags just in front of the ear
- Slow or incomplete development of motor skills
-
Small head (
microcephaly
)
Microcephaly
Microcephaly is a condition in which a person's head size is much smaller than that of others of the same age and sex. Head size is measured as the ...
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Small jaw (
micrognathia
)
Micrognathia
Micrognathia is a term for a lower jaw that is smaller than normal.
Read Article Now Book Mark Article - Wide-set eyes
Exams and Tests
The health care provider will perform a physical exam. This may show:
-
Inguinal hernia
Inguinal hernia
A hernia is a sac formed by the lining of the abdominal cavity (peritoneum). The sac comes through a hole or weak area in the strong layer of the be...
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Diastasis recti
(separation of the muscles in the belly area)
Diastasis recti
Diastasis recti is a separation between the left and right side of the rectus abdominis muscle. This muscle covers the front surface of the belly ar...
Read Article Now Book Mark Article - Low muscle tone
-
Epicanthal folds
, an extra fold of skin over the inner corner of the eye
Epicanthal folds
An epicanthal fold is skin of the upper eyelid that covers the inner corner of the eye. The fold runs from nose to the inner side of the eyebrow....
Read Article Now Book Mark Article - Problems with the folding of the outer ears
Genetic tests can show a missing part of chromosome 5. Skull x-ray may reveal any problems with the shape of the base of the skull.
Treatment
There is no specific treatment. Your provider will suggest ways to treat or manage the symptoms.
Parents of a child with this syndrome should have genetic counseling and testing to determine if one parent has a change in chromosome 5.
Support Groups
5P- Society -- www.fivepminus.org
Outlook (Prognosis)
Intellectual disability is common. Half of children with this syndrome learn enough verbal skills to communicate. The cat-like cry becomes less noticeable over time.
Possible Complications
Complications depend on the amount of intellectual disability and physical problems. Symptoms may affect the person's ability to care for themselves.
When to Contact a Medical Professional
This syndrome is most often diagnosed at birth. Your provider will discuss your baby's symptoms with you. It is important to continue regular visits with the child's providers after leaving the hospital.
Genetic counseling and testing is recommended for all people with a family history of this syndrome.
Prevention
There is no known prevention. Couples with a family history of this syndrome who wish to become pregnant may consider genetic counseling.
References
Bacino CA, Lee B. Cytogenetics. In: Kliegman RM, Stanton BF, St Geme JW III, Schor NF, eds. Nelson Textbook of Pediatrics . 20th ed. Philadelphia, PA: Elsevier; 2016:chap 81.
Review Date: 8/1/2015
Reviewed By: Chad Haldeman-Englert, MD, FACMG, Fullerton Genetics Center, Asheville, NC. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Isla Ogilvie, PhD, and the A.D.A.M. Editorial team.
