Crome syndrome
Crome Syndrome
Crome Syndrome (pronounced: /krəʊm/), also known as Laxova Crome Syndrome or Congenital Retinal Dystrophy is a rare genetic disorder characterized by severe intellectual disability, growth retardation, and retinal dystrophy.
Etymology
The syndrome is named after the British pediatrician, John Crome, who first described the condition in 1963. The term "syndrome" is derived from the Greek word "syndromē", which means "concurrence of symptoms".
Symptoms
Crome Syndrome is characterized by a number of symptoms, including:
Causes
Crome Syndrome is caused by mutations in the CRB1 gene. This gene provides instructions for making a protein that is essential for maintaining the structure of light-sensing cells in the retina.
Diagnosis
Diagnosis of Crome Syndrome is based on clinical examination, genetic testing, and imaging studies such as Electroretinography (ERG) and Optical Coherence Tomography (OCT).
Treatment
There is currently no cure for Crome Syndrome. Treatment is supportive and aims to manage symptoms. This may include special education for intellectual disability, growth hormone therapy for growth retardation, and low vision aids for retinal dystrophy.
Prognosis
The prognosis for individuals with Crome Syndrome varies. Some individuals may have a normal lifespan, while others may have a shortened lifespan due to complications of the disease.
See Also
External links
- Medical encyclopedia article on Crome syndrome
- Wikipedia's article - Crome syndrome
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