RARE DISEASE HONG KONG

捐助支持
加入本會
登記做義工

About Rare DiseasesRare Disease Wiki

Costello Syndrome

Name of disease:

Costello Syndrome

ICD-10 diagnosis code:

Q87.1

Causes:

It is caused by the mutation of HRAS gene.

Mode of inheritance:

Costello syndrome can be sporadic or is inherited from parents in autosomal dominant pattern of inheritance

Prevalence:

1/300,000 – 1/1,250,000

Diagnosis:

Diagnosis of Costello syndrome is mainly based on clinical examinations and specific diagnostic criteria. Molecular genetic testing for HRAS gene mutation is used to confirm diagnosis.

Age of onset:

Antenatal to neonatal

Common signs and symptoms:

>Growth delay Short stature Extra loose skin on the neck, palm, fingers and soles of the feet Noncancerous tumors around the face and anus Developmental delay and intellectual disability Abnormally flexible joints of the fingers Abnormally large head Unusually thick lips Congenital abnormalities of heart and thickening of heart muscle

Available treatments (medicinal and non-medicinal):

Current treatment is mainly directed towards the symptoms of Costello syndrome. Patients with cardiac abnormalities are treated with medications such as calcium channel blockers or surgery. Facial tumor may be removed with dry ice (cryotherapy).

Disease management tips:

The management of patients with Costello syndrome requires an experienced, multidisciplinary approach to tackle the signs and symptoms. Some patients may show ulnar deviation of the wrists, which requires bracing, occupational and physical therapy to relieve the pain and symptoms. The Achilles tendon of patients may tighten with age. They shall receive surgery intervention to lengthen the tendon. Diseased children will face the problem of growth delay, developmental delay and intellectual disability. Speech therapy, vocational services and special remedial education may be required.

References:

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=3071 https://rarediseases.org/rare-diseases/costello-syndrome/

Other useful websites

More about the disease:https://medlineplus.gov/genetics/condition/costello-syndrome/ Patient groups: Costello Kids https://www.costellokids.com