Specialized Pediatrics and Rare Diseases Department

The Specialized Pediatrics and Rare Diseases Department of the Children's National Medical Center diagnoses and treats children with rare, hereditary and complex multisystem diseases.

We work with patients who have gone a long time without a diagnosis, who need in-depth examination and the involvement of several specialists at once.

Main areas

• diagnosis and treatment of orphan (rare) diseases in children
• care for patients with hereditary and genetic disorders, including:
  • inborn errors of metabolism (metabolic diseases)
  • chromosomal and genetic syndromes
  • hereditary endocrine diseases
  • rare neurological and neuromuscular diseases
  • hereditary lung diseases
  • rare diseases of the gastrointestinal tract
  • primary immunodeficiencies and autoimmune conditions
• diagnosis of complex and unclear clinical cases
• differential diagnosis of rare diseases
• follow-up of children with chronic multisystem conditions
• multidisciplinary case conferences
• development of individual treatment and rehabilitation plans

What makes the department unique

The department works as a specialized center for complex patients, where a child receives not separate consultations but comprehensive, coordinated care.

The key approach is multidisciplinary teamwork: a pediatrician, geneticist, endocrinologist and other specialists review each case together and develop an individual treatment strategy.

This makes it possible to detect rare diseases early, clarify complex diagnoses and select personalized therapy.

Our team

The department has a multidisciplinary team of specialists: pediatricians, geneticists, endocrinologists, pulmonologists and highly qualified nursing staff.

The team provides a comprehensive approach to diagnosing and treating patients with rare and complex diseases.

The department is one of the region's key centers for rare diseases in children.

To learn more or book a consultation, contact us:

• Contact center: +998 78 113 90 62
• Telegram: t.me/bmtmmurojaat
• WhatsApp: +998 95 152 11 28