Cri du chat syndrome

Cri du chat syndrome

Cri du chat syndromeis a group of symptoms that result from missing a piece of chromosomechromosome number 5. The syndrome’s name is based on the infant’s cry, which is high-pitched and sounds like a cat.

CausesCauses
Cri du chat syndrome is rare. It happens when genetic information on chromosome 5 is missing. One missing piece, called TERT (telomerase reverse transcriptase) is involved in control of cell growth, and may play a role in how some of the features of this syndrome develop.

Most cases are believed to occur during the development of the egg or sperm. A minority of cases result from one parent carrying a rearrangement of chromosome 5 called a translocation and passing this on to the baby.

This syndrome may account for up to 1% of individuals with severe mental retardation.

SymptomsSymptoms
•Cry that is high-pitched and sounds like a cat
•Downward slant to the eyes
•Low birth weightLow birth weight and slow growth
•Low-set or abnormally shaped earsLow-set or abnormally shaped ears
•Mental retardationMental retardation
•Partial webbing or fusing of fingers or toes
•Single line in the palm of the hand (simian creasesimian crease)
•Skin tags just in front of the ear
•Slow or incomplete development of motor skills
•Small head (microcephalymicrocephaly)
•Small jaw (micrognathiamicrognathia)
•Wide-set eyes
Exams and TestsExams and Tests
In addition to symptoms, the physical examination may show:

•Inguinal herniaInguinal hernia
•Diastasis rectiDiastasis recti (separated abdominal muscles)
•Low muscle tone
•Epicanthal foldsEpicanthal folds, an extra fold of skin over the inner corner of the eye
•Incompletely or abnormally folded external ears
Genetic tests can show a missing part of chromosome 5. Skull x-ray may reveal an abnormal angle to the base of the skull.

TreatmentTreatment
No specific treatment is available for this syndrome. The mental retardation must be addressed, and counseling is recommended for the parents.

Parents of a child with this syndrome should have genetic counseling and a karyotype test to determine if one parent has a rearrangement of chromosome 5.

Support GroupsSupport Groups
5p- Society — www.fivepminus.orgwww.fivepminus.org

Outlook (Prognosis)Outlook (Prognosis)
What can be expected varies, but mental retardation is usual. Half of children with Cri du chat syndrome learn sufficient verbal skills to communicate. The cat-like cry becomes less apparent over time.

Possible ComplicationsPossible Complications
Complications depend on the extent of mental retardation and physical abnormalities. Complications may include:

•Inability to care for self
•Inability to function in society
When to Contact a Medical ProfessionalWhen to Contact a Medical Professional
This is a diagnosis that is generally made in the hospital at birth. Your health care provider will discuss your baby’s signs and symptoms with you. When you leave the hospital, it’s important to maintain regular contact with your health care provider and other caregivers. Genetic counseling and testing is recommended for all persons with a family history of this syndrome.

PreventionPrevention
There is no known prevention. Couples with a family history of this syndrome who wish to become pregnant may consider genetic counseling.

Alternative NamesAlternative Names
Chromosome 5p deletion syndrome; 5p minus syndrome; Cat cry syndrome

ReferencesReferences
Descartes M, Carroll AJ. Cytogenetics. In: Kliegman RM, Behrman RE, Jenson HB, Stanton BF, eds. Nelson Textbook of Pediatrics. 18th Ed. Philadelphia, Pa: Saunders Elsevier; 2007: chap 81.

Update Date: 8/26/2009Update Date: 8/26/2009
Updated by: Chad Haldeman-Englert, MD, Wake Forest University School of Medicine, Department of Pediatrics, Section on Medical Genetics, Winston-Salem, NC. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.

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