Cri-du-Chat (5p- syndrome)

• 1 in 50,000 live births
• de novo deletions in 85% of cases
• phenotype is usually related to deletion of band 5p15
• parental chromosomes should always be examined, and if they are normal, recurrence risks are about 1%

Characteristics

• Growth deficiencies, mental retardation, microcephaly
• cat-like cry
• Facies: round moon face (full cheeks, hypertelorism, epicanthal folds, flat nasal bridge, small chin). Also, strabismus, epicanthal folds, anti-mongoloid slant of palpebral fissures (medial eye is up; surprised look); in later childhood and adulthood, elongation of face occurs

Mnemonic: cat-crying to the moon

CHLA board review course 2005
Baraitser and Winter, 1996. Color Atlas of Congenital Malformation Syndromes