Centre For Genetic Metabolic Disorders

Treatments & Procedures

The Center for Congenital Disorders has provided multidisciplinary care to children with genetic diseases, birth defects and congenital malformations. We provide family-centered care, believing that healing must extend not only to the person with the disease, but to the parents, siblings and extended family members as well. We offer a team approach, bringing together practitioners from an array of medical and surgical specialties to care for our most complicated and fragile patients.

The center is staffed by board certified medical geneticists, genetic counselors and consultants from an array of pediatric specialties, including cardiology, pulmonology, endocrinology, neurology, orthopedic surgery, neurosurgery, urology and plastic surgery. Together, we provide diagnostic services and state-of-the-art care to infants, children and adults with a wide array of conditions that include:

  • Down syndrome and other chromosomal abnormalities
  • Spina bifida (also known as meningomyelocele)
  • Neurofibromatosis and other neurogenetic disorders
  • Marfan syndrome
  • Osteogenesis imperfecta and other skeletal disorders
  • Phenylketonuria and other inborn errors of metabolism
  • Hearing impairment
  • Williams syndrome

 

We also provide genetic evaluation of patients with developmental disabilities, autism and undiagnosed conditions, genetic counseling to family members and genetic testing in families with breast cancer and other forms of cancer.

The Spina Bifida Center at KIMS was one of the first programs of its type in Hyderabad. Because of the nature of their many problems, children with disorders of the spine, including such congenital anomalies as spina bifida, myelomeningocele and sacral agenesis, as well as traumatic injuries, require coordinated care delivered by a large number of specialists. Our center delivers this care by bringing together the specialists in a single setting, so that infants, children and adults can see all their physicians on a single day. This approach also allows the team of board certified physicians and surgeons caring for an individual patient to discuss that patient's needs at a team meeting, a concept that prevents duplication of care and unnecessary surgery and procedures. But the Spina Bifida Center delivers more than medical and surgical care. Children with spina bifida and their families have many nonmedical needs as well. Our staff includes representatives from social service, genetic counseling, psychology and child life to help assist our patients. We sponsor support groups for adolescents and parents, outings for children and families, and ongoing family counseling. In short, the center provides for all the needs of our patients from birth into adulthood.

The center's staff provides state-of-the-art care to infants, children and adults with:

  • Spina bifida (also known as meningomyelocele)
  • Meningocele
  • Sacral agenesis (also known as caudal regression)
  • Traumatic injuries of the spinal cord

 

The Williams Syndrome Center at KIMS brings together a multidisciplinary team of highly specialized pediatric experts to provide the comprehensive medical care needed for Williams syndrome patients of every age. We can personalize every evaluation, and during our morning clinics, patients and their families can rotate their appointments between the geneticist and counselor, cardiologist, developmental specialist and an overall case manager.KIMS social workers provide ongoing support to patients and their families. The team also includes a clinical/school psychologist and a speech/language therapist who are available for screenings, full evaluations and consultations about academic programs and school-related issues. Other specialists in the center include pediatric nephrologists, developmentalists, gastroenterologists, neurologists, endocrinologists and metabolic specialists.

At the Craniofacial Center at KIMS, our exceptional multidisciplinary team of specialists has helped us to become one of the most respected craniofacial programs in the world. We've helped thousands of children born with birth anomalies, complex craniofacial tumors, and post-traumatic craniofacial deformities. We earned the unique honor of completing the world's first totally successful separation of twins joined at the head. Our staff is devoted to providing careful attention to each child's medical needs, while offering family-centered care that empowers each child's extended care network and helps the entire family to enjoy the highest quality outcome possible. Together, our board certified physicians and surgeons take time with each patient to provide a thorough evaluation and careful diagnosis using state-of-the-art diagnostic services, including CT scans with three-dimensional reconstruction. During our multidisciplinary consultations each patient and his or her family is given a private exam room. Each member of the team then visits the family in privacy, allowing the family to be evaluated by the team without traveling from office to office. Our unique collaborative approach to treatment puts a premium on the education and involvement of patients and caregivers during every stage of care. As one of the country's leading craniofacial centers, we attract patients from around the country and overseas. Treating such a broad range of patients allows our doctors to continually enhance their experience and gives them the expertise to determine the best time in a child's development to perform surgery.

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