Cri-du-chat syndrome Q93.-

First described in 1963 by the French geneticist and pediatrician Jérôme Lejeune. He named it after the cat-like crying (French: cri du chat = "cat cry") of affected children in early childhood.

Prevalence in children about 1/ 20,000-50,000.

Structural chromosomal aberration with partial deletion of the terminal end of the short arm of chromosome 5 (= partial monosomy) The probability of a child being born with CDC syndrome whose mother or father has a corresponding balanced translocation is 25% (Mainardi PC 2006). Cri-du-chat syndrome is one of the most common syndromes caused by chromosome deletion.

w:m=5:1

Neurology: Hyperreflexia; cat-like, high and shrill sounds in early childhood, decreasing with age. Caused by a malformation of the larynx (laryngomalacia); also detectable is a brain stem hypoplasia (Hong JH et al. 2013) and a cerebellar hypoplasia (Chen CP et al. 2013); intelligence defects; no speech development.

Growth disorders (short stature/below average height and below average body weight)

Muscle hypotonia, usually severe delay in motor development; incontinence persists throughout life

Skull: Microcephaly with often elongated head shape; round face, often deep-seated dysplastic ears, narrow chin, micrognathia, widened and flattened nasal root; 1/3 of the patients experience premature graying(Canities praecox).

Eyes: Hypertelorism; epicanthus medialis; outward sloping eyelid axes; strabismus/strabismus; ciliary dyskinesia (Shapiro AJ et al. 2014)

malformations of the internal organs (less frequently): the heart is mainly affected; renal agenesia

skeleton: scoliosis; short metatarsal and/or metatarsal bones; flat feet; four-finger furrow

Dental problems; often difficulties in breastfeeding; chronic constipation; tendency to upper respiratory tract infections

Clinical picture; detection of the genetic defect on 5p15.3-p15.2

Prenatal diagnosis by amniocentesis or chorionic villus sampling. Detection of the genetic defect (Cardoso MC et al. 2018).

No causal curability. Symptomatic therapy with medical treatment and social support; early intervention, physiotherapy, occupational therapy and speech therapy. Early preventive treatment of dental problems is important.

Life expectancy of people with CDC syndrome is not significantly shortened.

1. Cardoso MC et al (2018) Prenatal sonographic diagnosis of isolated fetal ascites in cri-du-chat (5p) syndrome: A case report. J Clin Ultrasound doi: 10.1002/jcu.22679.
2. Chen CP et al (2013) Cri-du-chat (5p-) syndrome presenting with cerebellar hypoplasia and hypospadias: prenatal diagnosis and aCGH characterization using uncultured amniocytes. Genes 524:407-411.
3. Hong JH et al (2013) Brain stem hypoplasia associated with Cri-du-Chat syndrome. Korean J Radiol 14:960-962.
4. Mainardi PC (2006): Cri du Chat syndrome. In: Orphanet Journal of Rare Diseases 1: doi:10.1186/1750-1172-1-33.
5. Shapiro AJ et al (2014) Cri du chat syndrome and primary ciliary dyskinesia: a common genetic cause on chromosome 5p. J Pediatr 165:858-861.