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Cri-Du-Cha Syndrome

Name of disease:

Cri-Du-Cha Syndrome

ICD-10 diagnosis code:

Q93.4

Causes:

Cri-Du-Cha Syndrome is associated with the deletion mutation on the small arm (the p arm) of chromosome 5.

Pattern of inheritance:

0% de novo mutation 10% inherited from parents in an autosomal dominant pattern

Prevalence:

Cri-Du-Chat Syndrome affects females more often than males. The incidence ranges from 1-15,000 to 50,000 live births. Some cases of Cri-Du-chat Syndrome may go undiagnosed making it difficult to determine the true frequency of this disorder in the general population.

Diagnosis:

Physical examinations assess the signs and symptoms. X-ray may be done to reveal skeletal abnormalities such as scoliosis.Cytogenetic studies Molecular genetic testsChromosomal studies

Age of onset:

Antenatal

Common signs and symptoms:

Cat-like cry Eye folds High pitched voice Intellectual disability Abnormally small skull Severe global developmental delay Low or weak muscle tone Circular face Small retruded chin Broad nasal bridge Wide-set eyes Abnormal curving of the spine

Available treatments (medicinal and non-medicinal):

No specific treatment exists, however, rehabilitation, initiated early-on, has proven to be beneficial as it seems to improve prognosis and social adaptation. Research and studies of cri du chat syndrome is ongoing.

Disease management tips:

During the neonatal period, physical therapy should be started in the first week of life to help with any difficulty in swallowing and suction. Physical therapy, psychomotricity, and speech therapy are suggested for psychomotor and speech retardation. Patients often have sensorineural deafness; therefore, audiometric examinations should be routinely carried out. Malformations, including congenital heart disease and renal abnormalities, should be rule out as soon as the diagnosis is suspected. Periodic general check-up is recommended, including ENT, ophthalmological and dental assessments.

References:

ORPHAN-NET https://rarediseases.org/rare-diseases/cri-du-chat-syndrome/ https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1574300/

Other useful websites:

Patient Groups: 5P-Societyhttp://www.fivepminus.org Unique – Rare Chromosome Disorder Support Grouphttps://www.rarechromo.org/ Cri Du Chat Syndrome Support Grouphttp://www.criduchat.org.uk/