Definition of Cat cry syndrome
Cat cry syndrome: A disorder caused by the loss of part of the short (p) arm from chromosome 5. Also called the cri du chat (or cri-du-chat) syndrome.
The cat cry syndrome is one of the most common human deletion syndromes with an incidence varying between 1 in 20,000 to 1 in 50,000 births. The frequency of the syndrome among profoundly retarded patients (with an IQ less than 20) is approximately 1 in 100.
The syndrome was discovered in France in 1963 by a team headed by the late Jerome Lejeune. The peculiar cry of affected infants sounded to Lejeune like the meowing of a Parisian cat. The syndrome involves severe developmental and mental retardation and a characteristic constellation of congenital malformations which include microcephaly (small head), round face, hypertelorism (wide-spread eyes), micrognathia (small chin), epicanthal folds (inner eye folds), low-set ears, hypotonia (poor muscle tone), and motor and mental retardation. Although the majority of patients die in early childhood, some survive into adulthood and exhibit an IQ below 20, a loss of hypertelorism and epicanthic folds and development of a thin narrow face with prominent nasal bridge.
Last Editorial Review: 6/14/2012
Back to MedTerms online medical dictionary A-Z List
Need help identifying pills and medications?
- Allergic Skin Disorders
- Bacterial Skin Diseases
- Bites and Infestations
- Diseases of Pigment
- Fungal Skin Diseases
- Medical Anatomy and Illustrations
- Noncancerous, Precancerous & Cancerous Tumors
- Oral Health Conditions
- Papules, Scales, Plaques and Eruptions
- Scalp, Hair and Nails
- Sexually Transmitted Diseases (STDs)
- Vascular, Lymphatic and Systemic Conditions
- Viral Skin Diseases
- Additional Skin Conditions