Blepharo naso facial syndrome Van maldergem type

Blepharo Naso Facial Syndrome Van Maldergem Type is a rare genetic disorder characterized by a combination of physical abnormalities affecting the eyes, nose, and face. The syndrome was first described by the Belgian geneticist Dr. Lionel Van Maldergem in 1992.

Symptoms and Characteristics

The primary features of Blepharo Naso Facial Syndrome Van Maldergem Type include blepharophimosis (a condition where the patient has an abnormally narrow eye opening), epicanthus (a vertical fold of skin on either side of the nose), and a broad or bulbous nose. Other facial features may include a long philtrum (the vertical groove between the nose and upper lip), a thin upper lip, and a small mouth.

In addition to these facial features, individuals with this syndrome may also have intellectual disability and growth retardation. However, the severity of these symptoms can vary widely among affected individuals.

Causes

Blepharo Naso Facial Syndrome Van Maldergem Type is caused by mutations in an as-yet-unknown gene. It is believed to be inherited in an autosomal recessive manner, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

Diagnosis and Treatment

Diagnosis of Blepharo Naso Facial Syndrome Van Maldergem Type is based on the presence of characteristic physical features. Genetic testing may also be used to confirm the diagnosis, although the specific gene associated with this condition has not yet been identified.

Treatment for Blepharo Naso Facial Syndrome Van Maldergem Type is symptomatic and supportive. This may include surgical correction of the eye abnormalities, speech therapy for those with speech difficulties, and educational support for those with intellectual disabilities.

See Also

• Genetic disorder
• Autosomal recessive inheritance
• Blepharophimosis
• Epicanthus
• Intellectual disability

NIH genetic and rare disease info

• NIH info on Blepharo naso facial syndrome Van maldergem type

Blepharo naso facial syndrome Van maldergem type is a rare disease.

Blepharo naso facial syndrome Van maldergem type Resources
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