What are the other Names for this Condition? (Also known as/Synonyms)

• Cataract-Nephropathy-Encephalopathy Syndrome
• Congenital Cataracts, Renal Tubular Necrosis and Encephalopathy

What is Crome Syndrome? (Definition/Background Information)

• Crome Syndrome, also known as Cataract-Nephropathy-Encephalopathy Syndrome, describes a lethal combination of manifestations including short stature, congenital cataracts, encephalopathy with epileptic fits, and postmortem confirmation of nephropathy (renal tubular necrosis)
• The combination of cataract, nephropathy, and encephalopathy has been described in 2 female infant children of first cousin parents. The infants did not survive beyond 4 and 8 months respectively
• There have been no further descriptions in the literature since 1963

(Source: Cataract-nephropathy-encephalopathy syndrome; Orphanet, National Institute of Health and Medical Research (INSERM), Paris.)

Who gets Crome Syndrome? (Age and Sex Distribution)

• Crome Syndrome is an extremely rare congenital disorder. The presentation of symptoms may occur at birth
• Both males and females may be affected
• Worldwide, individuals of all racial and ethnic groups may be affected

What are the Risk Factors for Crome Syndrome? (Predisposing Factors)

• Currently, no risk factors have been clearly identified for Crome Syndrome

It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases one’s chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.

Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.

What are the Causes of Crome Syndrome? (Etiology)

The exact cause of development of Crome Syndrome is presently unknown.

What are the Signs and Symptoms of Crome Syndrome?

The signs and symptoms of Crome Syndrome may include:

• Acute tubular necrosis
• Cerebellar dysplasia
• Congenital cataract
• Encephalopathy

Very frequently present symptoms in 80-99% of the cases:

• Cataract
• Intellectual disability
• Renal tubular dysfunction
• Seizures

Frequently present symptoms in 30-79% of the cases: Nystagmus

(Source: Crome Syndrome; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

How is Crome Syndrome Diagnosed?

Crome Syndrome is diagnosed on the basis of the following information:

• Complete physical examination
• Thorough medical history evaluation
• Assessment of signs and symptoms
• Laboratory tests
• Imaging studies
• Biopsy studies, if necessary

Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.

What are the possible Complications of Crome Syndrome?

The complications of Crome Syndrome may include:

• Loss of vision
• Brain and kidney abnormalities

Complications may occur with or without treatment, and in some cases, due to treatment also.

How is Crome Syndrome Treated?

Presently, there is no cure for Crome Syndrome. The treatment is usually given to manage the signs and symptoms and any complications that develops.

How can Crome Syndrome be Prevented?

• Currently, Crome Syndrome may not be preventable, since the cause of the disorder is unknown
• Regular medical screening at periodic intervals with tests and physical examinations are recommended

What is the Prognosis of Crome Syndrome? (Outcomes/Resolutions)

• The prognosis of Crome Syndrome is dependent upon the severity of the signs and symptoms and associated complications, if any
• Individuals with mild conditions have better prognosis than those with severe symptoms and complications
• Typically, the prognosis may be assessed on a case-by-case basis

Additional and Relevant Useful Information for Crome Syndrome:

The following DoveMed website link is a useful resource for additional information:

http://www.dovemed.com/diseases-conditions/rare-disorders/