eMedicine Specialties > Pediatrics: Genetics and Metabolic Disease > Genetics

Cri-du-chat Syndrome: Follow-up

Author: Harold Chen, MD, MS, FAAP, FACMG, Professor, Departments of Pediatrics, Obstetrics and Gynecology, and Pathology, Director of Genetic Laboratory Services, Louisiana State University Medical Center
Contributor Information and Disclosures

Updated: May 13, 2009

Follow-up

Deterrence/Prevention

  • See Special Concerns for information regarding genetic counseling and prenatal diagnosis in cri-du-chat syndrome.

Prognosis

  • After the first years of life, the mortality (10%) and morbidity rates are low. About 75% of deaths occurred during the first months of life, and as many as 90% occurred within the first year. 
  • Recent improvements in management and rehabilitation programs have resulted in increased psychomotor development, improved autonomy, and better social adaptation.
  • Until recently, little was known about the cognitive function of patients with cri-du-chat syndrome. Recent literature indicates that many children can develop some language and motor skills. These children attain the developmental and social skills commonly observed in children aged 5-6 years, although their linguistic abilities are seldom as advanced. Older, home-reared children are usually ambulatory, able to communicate verbally or through gestural sign language, and independent in self-care skills.

Patient Education

Miscellaneous

Medicolegal Pitfalls

  • Failure to recognize characteristic symptoms and signs
  • Failure to refer to a geneticist for evaluation and genetic counseling
  • Failure to request chromosome analysis of patients with the clinical phenotype of cri-du-chat
  • Failure to request chromosome analysis of parents to rule out familial translocation
  • Failure to offer prenatal diagnosis after the birth of an affected child
  • Failure to properly inform parents about the range of psychomotor potential difficulties, which would help them make informed decisions concerning home-rearing or institutional placement

Special Concerns

  • Genetic counseling
    • Most persons with cri-du-chat syndrome have a de novo deletion, and the risk of recurrence in these individuals is practically negligible. However, the possibility of gonadal mosaicism in one of the parents cannot be excluded, even if no recurrence has been reported.
    • In patients with a balanced familial translocation, the recurrence risk is higher. The reproductive risk for producing unbalanced offspring for carriers of translocations that involve 5p ranged from 8.7-18.8%.12 The risk for male and female carriers is the same.
  • Prenatal diagnosis
    • Prenatal diagnosis of fetuses with cri-du-chat syndrome has been reported in families with a balanced familial translocation. 
    • Prenatal diagnosis of de novo 5p deletions is not common but has been reported in patients with following conditions:13
      • Nonimmune hydrops fetalis
      • Isolated bilateral ventriculomegaly
      • Fetal choroid cysts associated with an abnormal maternal serum human chorionic gonadotrophin level
      • Microcephaly with cerebellar hypoplasia (a fetus with 5p- mosaicism)
      • Dandy-Walker syndrome with agenesis of the corpus callosum
      • Encephalocele
      • Corpus callosum agenesis
    • Not all 5p deletions result in the cri-du-chat phenotype. Individuals with short terminal deletions in 5p15.3 may show only a mild or moderate psychomotor retardation. Interstitial and apparently unbalanced deletion in 5p14, detected with prenatal diagnosis indicated for advanced maternal age, resulted in a completely normal phenotype traced through 6 individuals in 3 generations.14
 


More on Cri-du-chat Syndrome

Overview: Cri-du-chat Syndrome
Differential Diagnoses & Workup: Cri-du-chat Syndrome
Treatment & Medication: Cri-du-chat Syndrome
Follow-up: Cri-du-chat Syndrome
Multimedia: Cri-du-chat Syndrome
References
Further Reading
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References

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Keywords

cat cry syndrome, chromosome deletion 5p syndrome, monosomy 5p syndrome, (Bp-), 5p-, partial deletion of chromosome 5p, 5p deletion, 5p monosomy, growth failure, microcephaly, facial abnormalities, mental retardation, catlike cry, mewing cry, laryngeal hypoplasia, floppy epiglottis, small larynx, asymmetric vocal cords, pneumonia, congenital heart defects, respiratory distress syndrome, cri-du-chat syndrome, aneuploidies, feeding problems, failure to thrive, ear infections, cognitive delay, speech delay, motor delay, hyperactivity, self-injurious behavior, hypotonia, hypertelorism, epicanthal folds, down-slanting palpebral fissures, strabismus, down-turned mouth, flat nasal bridge, micrognathia, low-set ears, short fingers, single palmar creases, cardiac defects

cleft lip and palate, preauricular tags, preauricular fistulas, thymic dysplasia, gut malrotation, megacolon, inguinal hernia, dislocated hips, cryptorchidism, hypospadias, renal malformations, clinodactyly of the fifth fingers, talipes equinovarus, pes planus, syndactyly of the second and third fingers and toes, oligosyndactyly, hyperextensible joints, short philtrum, malocclusion of the teeth, scoliosis, short third-fifth metacarpals, transverse flexion creases, distal axial triradius

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Contributor Information and Disclosures

Author

Harold Chen, MD, MS, FAAP, FACMG, Professor, Departments of Pediatrics, Obstetrics and Gynecology, and Pathology, Director of Genetic Laboratory Services, Louisiana State University Medical Center
Harold Chen, MD, MS, FAAP, FACMG is a member of the following medical societies: American Academy of Pediatrics, American Medical Association, American Society of Human Genetics, and Teratology Society
Disclosure: Nothing to disclose.

Medical Editor

Ian Krantz, MD, Department of Pediatrics, Assistant Professor, University of Pennsylvania and Children's Hospital of Philadelphia
Ian Krantz, MD is a member of the following medical societies: American Society of Human Genetics
Disclosure: Nothing to disclose.

Pharmacy Editor

Mary L Windle, PharmD, Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy, Pharmacy Editor, eMedicine
Disclosure: Pfizer Inc Stock Investment from financial planner; Avanir Pharma Stock Investment from financial planner ; WebMD Salary and stock Employment and investment from financial planner

Managing Editor

David Flannery, MD, FAAP, FACMG, Vice Chair of Education, Chief, Section of Medical Genetics, Professor, Department of Pediatrics, Medical College of Georgia
David Flannery, MD, FAAP, FACMG is a member of the following medical societies: American Academy of Pediatrics and American College of Medical Genetics
Disclosure: Nothing to disclose.

CME Editor

Paul D Petry, DO, FACOP, FAAP, Consulting Staff, Freeman Pediatric Care, Freeman Health System
Paul D Petry, DO, FACOP, FAAP is a member of the following medical societies: American Academy of Osteopathy, American Academy of Pediatrics, American College of Osteopathic Pediatricians, and American Osteopathic Association
Disclosure: Nothing to disclose.

Chief Editor

Bruce Buehler, MD, Professor, Department of Pediatrics, Pathology and Microbiology, Executive Director, Hattie B Munroe Center for Human Genetics and Rehabilitation, University of Nebraska Medical Center
Bruce Buehler, MD is a member of the following medical societies: American Academy for Cerebral Palsy and Developmental Medicine, American Academy of Pediatrics, American Association on Mental Retardation, American College of Medical Genetics, American College of Physician Executives, American Medical Association, and Nebraska Medical Association
Disclosure: Nothing to disclose.

 
 
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