What are the symptoms of CdLS?

What are the symptoms of CdLS?

What are the symptoms of Cornelia de Lange syndrome?

• malformations of the hands and arms.
• microcephaly.
• seizures.
• gastrointestinal problems such as gastroesophageal reflux (GERD)
• autism spectrum disorders.
• underdevelopment of the sexual organs.
• cleft palate.
• heart defects.

What is CdLS life expectancy?

A person with CdLS can live a normal lifespan. However, if medical problems such as recurrent pneumonia, intestinal issues or congenital heart defects are not identified and properly treated, they may result in a shortened lifespan.

How is Cornelia de Lange syndrome treated?

Specific therapies for the treatment of CdLS are symptomatic and supportive. In some children, surgery may be performed to help correct cleft palate, cardiac defects and/or diaphragmatic hernias. Plastic surgery may be helpful in reducing excessive hair.

What is Hannah syndrome?

Hannah is non-verbal, has limited means of effective communication, sensory processing disorder, she displays some autistic type behaviours. Hannah is a sensory seeker. Hannah was initially fed by NG tube as she had no gag reflex.

How common is Cornelia de Lange syndrome?

Although the exact incidence is unknown, Cornelia de Lange syndrome likely affects 1 in 10,000 to 30,000 newborns. The condition is probably underdiagnosed because affected individuals with mild or uncommon features may never be recognized as having Cornelia de Lange syndrome.

How much has hope for Hasti raised?

This incredible honour was bestowed on him following his 700 mile barefoot march across Britain which saw him raise over £600,000 for Hope for Hasti and champion the cause of those suffering with rare disease across the world.

How many people in the world have Cornelia de Lange syndrome?

Which type of Gaucher disease does Hannah have?

At 5 months old, her liver became involved, and she was diagnosed with Neuronopathic Gaucher’s Disease type 2 or type 3, an incredibly rare and life-limiting genetic metabolic disorder. Her doctors originally gave us a prognosis of 9 months. Nine months. The race was on to save Hannah’s life.