KBG syndrome

KBG Syndrome

KBG syndrome (pronounced: K-B-G syndrome) is a rare genetic disorder characterized by distinctive facial features, dental anomalies, hearing loss, intellectual disability, and short stature. The syndrome is named after the initials of the last names of the first three families in which it was identified.

Etymology

The term "KBG syndrome" is an acronym derived from the initials of the last names of the first three families in which the syndrome was identified. The syndrome was first described in the medical literature in 1975.

Symptoms

The symptoms of KBG syndrome can vary greatly from person to person. However, common symptoms include:

• Distinctive facial features: These can include a broad forehead, widely spaced eyes, a short nose with a broad tip, and a thin upper lip.
• Dental anomalies: These can include delayed eruption of permanent teeth, missing teeth, and unusually shaped teeth.
• Hearing loss: This can range from mild to severe and is often present from birth.
• Intellectual disability: This can range from mild to moderate and is often accompanied by learning difficulties.
• Short stature: Individuals with KBG syndrome are often shorter than average for their age and sex.

Causes

KBG syndrome is caused by mutations in the ANKRD11 gene. This gene provides instructions for making a protein that is involved in regulating the activity of other genes. Mutations in the ANKRD11 gene disrupt this regulation, leading to the symptoms of KBG syndrome.

Diagnosis

The diagnosis of KBG syndrome is typically based on the presence of characteristic symptoms. Genetic testing can confirm the diagnosis by identifying a mutation in the ANKRD11 gene.

Treatment

There is currently no cure for KBG syndrome. Treatment is symptomatic and supportive, and may include physical therapy, speech therapy, and educational support.

See also

• Genetic disorder
• Mutation
• Gene
• Protein
• Physical therapy
• Speech therapy

External links

• Medical encyclopedia article on KBG syndrome
• Wikipedia's article - KBG syndrome

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