Genetics 

Conditions We Treat

The Division of Genetics at CHAM diagnoses and treats a range of genetic disorders, including:

• Down syndrome and other chromosomal abnormalities
• Hearing impairment
• Marfan syndrome
• Neurofibromatosis and other neurogenetic disorders
• Osteogenesis imperfecta and other skeletal disorders
• Phenylketonuria and other metabolic disorders
• Williams syndrome

We also provide genetic evaluations for:

• Autism
• Developmental disabilities
• Genetic counseling for families of patients
• Families with an elevated risk of cancer
• Undiagnosed conditions
• Montefiore-Einstein Regional Center for 22Q11.2 Deletion Syndrome

Our Spina Bifida Center offers leading-edge, research focused care for:

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