cri-du-chat (cry of the cat, chromosomal 5p deletion) syndrome

Epidemiology

• incidence: between 1 in 20,000 to 1 in 50,000 births

Genetics

• partial aneusomy resulting from chromosome 5p deletion
  • chromosome 5p15.2 deletion

Clinical manifestations

• microcephaly
• round face
• antimongoloid slant of palpebral fissures
• hypertelorism
• micrognathia
• epicanthal folds
• low-set ears,
• hypotonia
• severe psychomotor retardation
• mental retardation
• ventricular septal defect
• high-pitched cat-like cry in newborn infants
• majority of patients die in early childhood

Laboratory

• 5p chromosome deletion

More general terms

• developmental disorder syndrome (multisystem disorder)
• genetic syndrome (multisystem disorder)

Database

• OMIM: https://mirror.omim.org/entry/123450