Congenital Disorders

Hydrocephalus, often referred to as "water on the brain," is a condition where cerebrospinal fluid (CSF) builds up in the cavities (ventricles) deep within the [...]

Hydrocephalus, often referred to as "water on the brain," is a condition where cerebrospinal fluid (CSF) builds up in the cavities (ventricles) deep within the [...]

Dwarfism is a condition characterized by short stature, typically defined as an adult height of 4 feet 10 inches or less. It can be caused by genetic factors or medical [...]

Batten disease is a rare group of nervous system disorders called neuronal ceroid lipofuscinosis (NCLs) or ceroid lipofuscinosis, neuronal (CLN). This genetic condition [...]

Charcot-Marie-Tooth (CMT) Disease is a group of genetic disorders that affect the peripheral nerves, those nerves that lie outside of the brain and spinal cord. Named after [...]

Lysosomal storage disorders are a group of more than 50 rare genetic diseases that affect the lysosome, a structure in your cells responsible for breaking down and recycling [...]

Clubfoot, also known as club foot, is a common birth defect that affects about 1 in every 1,000 babies. If your baby is born with clubfoot, their foot may be twisted, curled [...]

Cystic hygroma is a rare condition that affects approximately one in 8,000 babies. It occurs when the lymphatic system, which helps filter out harmful substances from the [...]

Chondrodysplasia is a term that encompasses several genetic conditions affecting bone growth and development. These conditions are often associated with dwarfism, which [...]

Hunter syndrome, also known as mucopolysaccharidosis II or MPS II, is a rare genetic disorder that primarily affects boys. It occurs when the body cannot break down certain [...]