Excerpt from Cri-du-chat Syndrome

Synonyms, Key Words, and Related Terms: 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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Background

In 1963, Lejeune et al described a syndrome consisting of multiple congenital anomalies, mental retardation, microcephaly, abnormal face, and a mewing cry in infants with a deletion of a B group chromosome (Bp-), later identified as 5p-.¹ Cri-du-chat syndrome is an autosomal deletion syndrome caused by a partial deletion of chromosome 5p and is characterized by a distinctive, high-pitched, catlike cry in infancy with growth failure, microcephaly, facial abnormalities, and mental retardation throughout life.

Pathophysiology

A partial deletion of the short arm of chromosome 5 is responsible for the characteristic phenotype. The characteristic cry is perceptually and acoustically similar to the mewing of kittens. This unusual cry is due to structural abnormalities of the larynx (eg, laryngeal hypoplasia) and CNS dysfunction. The laryngeal appearance may be normal or may exhibit marked anatomical abnormalities such as floppy epiglottis, small larynx, and asymmetric vocal cords. However, the cause of the characteristic cry cannot be entirely ascribed to the larynx. A developmental field may connect the brain and the affected clivus region of the cranial base with the laryngeal region from which the characteristic cry derives. This area of the brain is probably deformed in patients with cri-du-chat syndrome. The characteristic cry usually disappears over time.

Frequency

United States

The estimated prevalence is about 1 in 50,000 live births. The prevalence among individuals with mental retardation is about 1.5 in 1000.

Mortality/Morbidity

With contemporary interventions, the chance of survival to adulthood is possible. Currently, the mortality rate of cri-du-chat syndrome is 6-8% in the overall population. Pneumonia, aspiration pneumonia, congenital heart defects, and respiratory distress syndrome are the most common causes of death.

Race

No racial predilection has been found.

Sex

A significant female predominance is observed in affected newborns, with a male-to-female ratio of 0.72:1.

Age

The condition is detected in newborns and infants because of the catlike cry and dysmorphic features.

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