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ULY CLINIC
ULY CLINIC
25 Mei 2025, 09:56:58
Cat’s cry syndrome
Cat’s cry syndrome, medically known as Cri-du-chat syndrome, is a rare congenital disorder resulting from a partial deletion of the short arm of chromosome 5 (5p−). The syndrome is named after the distinctive high-pitched, cat-like cry observed in affected neonates, typically due to abnormal development of the larynx and nervous system.
Epidemiology
Incidence: Approximately 1 in 50,000 live births.
Sex distribution: The condition affects females more frequently than males.
Most cases are sporadic, arising from de novo chromosomal deletions; however, some may be inherited from a carrier parent with a balanced translocation.
Etiology and pathophysiology
The 5p deletion affects genes essential for neuronal development and laryngeal formation. Loss of genetic material in this region results in:
Hypoplasia of the larynx and epiglottis (explains the cat-like cry).
Impaired brain development leading to profound intellectual disability.
Hypotonia and poor growth.
Malformations of the face, heart, and gastrointestinal (GI) system.
Table: Medical causes of a Cat-like or abnormal cry in neonates
Medical Condition | Key Features | Associated Findings |
Cat’s Cry Syndrome (Cri-du-chat) | Kittens-like cry from birth or shortly after; due to abnormal laryngeal development and neurological deficits. | Microcephaly, low birth weight, hypotonia, round face, wide-set eyes, strabismus, low-set ears, small jaw, short neck, webbed fingers, simian crease, cardiac and GI defects. |
Hypoxic-Ischemic Encephalopathy (HIE) | High-pitched or weak cry due to brain injury from perinatal asphyxia. | Seizures, hypotonia or hypertonia, poor feeding, lethargy, abnormal reflexes, encephalopathy signs. |
Intracranial Hemorrhage | Shrill, high-pitched cry due to raised intracranial pressure or irritation. | Bulging fontanelle, seizures, apnea, altered consciousness, poor suckling. |
Meningitis (Neonatal) | Irritable, high-pitched cry often associated with systemic illness. | Fever, poor feeding, seizures, neck stiffness (late), lethargy. |
CNS Malformations | Neurological abnormalities affecting cry tone (e.g., Arnold-Chiari malformation, lissencephaly). | Developmental delays, abnormal muscle tone, seizures, feeding difficulty. |
Congenital Laryngeal Malformations | Structural defects (e.g., laryngomalacia, vocal cord paralysis) altering cry pitch and quality. | Stridor, respiratory distress, weak or abnormal cry, feeding problems. |
Prader-Willi Syndrome | Weak cry in neonates due to hypotonia, though not cat-like in tone; included for differential purposes. | Hypotonia, poor suck, almond-shaped eyes, hypogonadism, obesity later in life. |
Trisomy 18 (Edwards Syndrome) | High-pitched, weak cry due to CNS anomalies and hypotonia. | Micrognathia, clenched fists, rocker-bottom feet, severe developmental delay, cardiac anomalies. |
Trisomy 13 (Patau Syndrome) | May present with abnormal or weak cry; significant CNS malformations. | Cleft lip/palate, polydactyly, microcephaly, holoprosencephaly, cardiac defects. |
Clinical Presentation
Neonatal and infant period
Characteristic high-pitched, kitten-like cry (hallmark sign).
Microcephaly
Low birth weight and failure to thrive
Feeding difficulties and hypotonia
Strabismus, wide-set eyes, round face
Down-slanting palpebral fissures and epicanthal folds
Low-set, abnormally shaped ears
Small mandible (micrognathia) and short neck
Simian crease, webbed fingers
Possible cardiac defects and gastrointestinal malformations
Respiratory symptoms (Emergency Considerations)
Nasal flaring
Respiratory rate >60 breaths/min
Irregular, shallow breathing
Cyanosis
Bradycardia (advanced cases)
Diagnosis
Clinical Suspicion
Neonates with high-pitched cry and dysmorphic features
Poor feeding, hypotonia, and developmental delay
Investigations
Chromosomal analysis (karyotyping or FISH) to detect 5p deletion
Apnea monitoring in neonates with respiratory concerns
CT scan of the brain to assess for structural abnormalities
ENT evaluation for laryngeal abnormalities
Emergency interventions
Ensure airway patency
Suction and administer warmed oxygen if respiratory distress is present
Resuscitation equipment should be readily available
Continuous monitoring of heart rate, respiratory status, and oxygen saturation
Management
Supportive Care
Feeding support: Small, frequent feeds; may require tube feeding initially
Growth monitoring: Regular tracking of weight and development
Therapeutic interventions:
Physiotherapy for hypotonia
Speech and occupational therapy
Special education programs
Multidisciplinary Approach
Genetic counseling for parents
Long-term care involving neurology, cardiology, gastroenterology, ENT, and developmental pediatrics
Prognosis
While profound intellectual disability is common, the life expectancy of affected individuals can be normal if there are no major organ anomalies. The prognosis improves significantly with early intervention and supportive care.
Patient and family counseling
Educate parents on the nature of the disorder and long-term management needs
Emphasize the importance of early developmental interventions
Offer referrals to genetic counselors and support groups
Provide emotional support and realistic expectations regarding growth and development
References
Torun D, Bahce M, Alanbay I, Guran S, Baser I. Prenatal diagnosis of Cri-du chat syndrome following high maternal serum human chorionic gonadotropin and choroid plexus cysts. Prenat Diagn. 2009;29(5):536–537.
Ye Y, Luo Y, Qian Y, Xu C, Jin F. Cri du chat syndrome after preimplantation genetic diagnosis for reciprocal translocation. Fertil Steril. 2011;96(1):e71–e75.
Mainardi PC. Cri du Chat syndrome. Orphanet J Rare Dis. 2006;1:33. doi:10.1186/1750-1172-1-33.
Cerruti Mainardi P, Pastore G, Castronovo C, Godi M, Guala A, Tamiazzo S, et al. The natural history of Cri du Chat syndrome: a report from the Italian Register. Eur J Med Genet. 2006;49(5):363–383.
Niebuhr E. The Cri du Chat syndrome: epidemiology, cytogenetics, and clinical features. Hum Genet. 1978;44(3):227–275.
Overhauser J, Huang X, Gersh M, Wilson W, McMahon J, Bengtsson U, et al. Molecular and phenotypic mapping of the short arm of chromosome 5: sublocalization of the critical region for the Cri du Chat syndrome. Hum Mol Genet. 1994;3(2):247–252.
Smith DW, Jones KL. Smith’s Recognizable Patterns of Human Malformation. 7th ed. Philadelphia: Elsevier Saunders; 2013. p. 116–117.
Jones KL. Smith's Recognizable Patterns of Human Malformation. 6th ed. Philadelphia: WB Saunders; 2006.
OMIM Entry – #123450 – Cri-du-chat syndrome; CDC. Online Mendelian Inheritance in Man, Johns Hopkins University. Available from: https://omim.org/entry/123450
Battaglia A, Cerruti Mainardi P, Carey JC. Genetic syndromes with intellectual disability. 2nd ed. Wiley-Blackwell; 2010. p. 146–150.