- Cri Du chat syndrome.

Cri Du chat syndrome

*Synonyms:-

• chromosome 5p deletion syndrome.
• 5p minus syndrome.
• Lejeune’s syndrome.

*Incidence:- rare.

*Pathophysiology:-
results from deletion of the distal short arm of chromosome no 5 (1).

*Karyotype :-
46,xx,5p-(female).
46,xy,5p-(male).
(5p- means that the short arm of chromosome 5 is shorter than normal).

*Clinical picture:-

• characteristic cry of affected infants, which is similar to that of cat ( i.e a high-pitched cry ) due to problems with the larynx and nervous system,about 1/3 of children lose the cry by age 2.
• feeding problems because of difficulty swallowing and sucking.
• low birth weight
• growth retardation.
• Mental retardation.
• hypotonia.
• microcephaly.
• cardiac defects (eg, ventricular septal defect [VSD],atrial septal defect [ASD], patent ductus arteriosus [PDA], tetralogy of Fallot).

*Treatment:-

• No specific treatment is available for this syndrome.
• The mental retardation must be addressed.

Return to list of medical syndromes here

*References:-
Principles of histology vol1,staff members ,faculty of medicine,mansoura university,ch3,p.g74.