Ayazi syndrome

Editor-In-Chief: Prab R Tumpati, MD
Obesity, Sleep & Internal medicine
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Ayazi syndrome
Synonyms
Pronounce
Specialty	Medical genetics
Symptoms	Intellectual disability, short stature, microcephaly, hypotonia, seizures
Complications	N/A
Onset
Duration
Types
Causes	Genetic mutation
Risks
Diagnosis	Genetic testing, clinical evaluation
Differential diagnosis
Prevention
Treatment	Supportive care, symptomatic treatment
Medication
Prognosis
Frequency
Deaths

Ayazi syndrome is a rare medical condition characterized by a combination of gastroesophageal reflux disease (GERD), laryngomalacia, and esophageal atresia. Named after the Iranian surgeon, Seyyed Hassan Ayazi, who first described the condition in 1977, Ayazi syndrome is a complex disorder that affects the esophagus and larynx.

Symptoms and Signs

Patients with Ayazi syndrome typically present with symptoms of GERD and laryngomalacia. These may include heartburn, regurgitation, dysphagia (difficulty swallowing), stridor (a high-pitched wheezing sound), and failure to thrive. In severe cases, patients may also experience respiratory distress due to the laryngomalacia.

Causes

The exact cause of Ayazi syndrome is unknown. However, it is believed to be due to a combination of genetic and environmental factors. Some researchers suggest that the condition may be associated with mutations in the FOX gene family, but more research is needed to confirm this.

Diagnosis

Diagnosis of Ayazi syndrome is based on the presence of the characteristic symptoms and signs, as well as the results of diagnostic tests such as endoscopy, barium swallow, and pH monitoring. Genetic testing may also be performed to identify any potential genetic mutations.

Treatment

Treatment for Ayazi syndrome is primarily focused on managing the symptoms. This may include medications to control GERD, such as proton pump inhibitors and H2 blockers, as well as surgical interventions for laryngomalacia and esophageal atresia. In severe cases, a tracheostomy may be required.

Prognosis

The prognosis for Ayazi syndrome varies depending on the severity of the symptoms and the response to treatment. With appropriate management, many patients can lead a normal life. However, some may experience ongoing difficulties with swallowing and breathing.

See Also

• Gastroesophageal reflux disease
• Laryngomalacia
• Esophageal atresia

References

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