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

• Branchial Dysplasia Clubfoot Inguinal Hernia and Biliary Atresia

What is Lambert Syndrome? (Definition/Background Information)

• Lambert Syndrome is a very rare syndrome described in four sibs of one French family
• It is characterized by branchial dysplasia (malar hypoplasia, macrostomia, preauricular tags and meatal atresia), club feet, inguinal herniae and cholestasis due to paucity of interlobular bile ducts and intellectual deficit

(Source: Lambert Syndrome; Orphanet, National Institute of Health and Medical Research (INSERM), Paris.)

Who gets Lambert Syndrome? (Age and Sex Distribution)

• Lambert Syndrome is a very rare congenital disorder. It has been so far described in only a single French family (with four siblings being affected) 
• The presentation of symptoms may occur at birth
• Both males and females may be affected

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

• A positive family history may be an important risk factor, since Lambert Syndrome can be inherited
• Children born of consanguineous parents may bear an increased risk of being born with this disorder

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 Lambert Syndrome? (Etiology)

• The exact cause of Lambert Syndrome is not known
• The condition is inherited in an autosomal recessive manner

What are the Signs and Symptoms of Lambert Syndrome?

The signs and symptoms of Lambert Syndrome may include:

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

• Failure to thrive in infancy
• Inguinal hernia
• Intellectual disability
• Intrahepatic biliary atresia
• Intrauterine growth retardation
• Malar flattening
• Wide mouth

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

• Branchial anomaly
• Decreased antibody level in blood
• Hypospadias
• Jaundice
• Preauricular skin tag
• Ventricular septal defect

 Occasionally present symptoms in 5-29% of the cases:

• Aplasia/hypoplasia of the cerebellum
• Muscular hypotonia

Talipes equinovarus is also observed.

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

How is Lambert Syndrome Diagnosed?

Lambert 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 Lambert Syndrome?

The complications of Lambert Syndrome may include:

• Severe mental deficiency
• Liver failure
• Abnormal heart function

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

How is Lambert Syndrome Treated?

There is no cure for Lambert Syndrome, since it is a genetic condition. The treatment is usually given to manage the signs and symptoms and any complication that develops.

How can Lambert Syndrome be Prevented?

Currently, Lambert Syndrome may not be preventable, since it is a genetic disorder.

• If there is a family history of the condition, then genetic counseling will help assess risks, before planning for a child
• Active research is currently being performed to explore the possibilities for treatment and prevention of inherited and acquired genetic disorders

Regular medical screening at periodic intervals with tests and physical examinations are recommended.

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

• The prognosis of Lambert 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 Lambert Syndrome:

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

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