Epidermolysis Bullosa, or EB, is a rare genetic connective tissue disorder that affects 1 out of every 20,000 births in [...]
A closer look at the impact of epilepsy in in individuals living with Intellectual and Development disabilities.
Familial dysautonomia (FD) affects the autonomic and sensory nervous systems of children from birth. The most striking symptoms of FD [...]
Fragile X syndrome (FXS) is a genetic condition that causes intellectual disability, behavioral and learning challenges and various physical characteristics.
What is FA? Friedreich’s ataxia (FA) is a debilitating, life-shortening, degenerative neuro-muscular disorder. About one in 50,000 people in the [...]
Oculo-auriculo-vertebral spectrum (OAVS) refers to three rare disorders that many clinicians believe to be intimately related to one another and [...]
Gorlin Syndrome, also known as nevoid basal cell carcinoma syndrome (NBCCS), is a rare genetic disorder that predisposes individuals to [...]
Guillain-Barré (Ghee-yan Bah-ray) Syndrome is an inflammatory disorder of the peripheral nerves outside the brain and spinal cord. It’s also [...]
Hermansky-Pudlak Syndrome (HPS) is a genetic metabolic disorder, with a prevalence of 1 to 9 in 1,000,000 individuals worldwide. It [...]
Hunter Syndrome (or Mucopolysaccharidosis/MPS II) is a rare condition affecting between 1 in 100,000 to 1 in 150,000 male births. [...]
Ichthyosis is a family of genetic skin disorders characterized by dry, scaling skin that may be thickened or very thin.
Autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of disorders that share an autosomal recessive pattern of inheritance, collodion [...]
Ichthyosis with confetti is a disorder of the skin. Individuals with this condition are born with red, scaly skin all [...]
Harlequin ichthyosis is a severe genetic disorder that affects the skin. Infants with this condition are born prematurely with very [...]
Infantile Hemangioma could be defined as a benign growth and collection of extra blood vessels mainly in the skin.
Isodicentric chromosome 15, abbreviated idic(15), is diagnosed in individuals who have 47 chromosomes (or sometimes more) instead of the typical [...]
Joubert syndrome, a rare genetic disorder characterized by partial or complete absence of a certain area of the brain (cerebellar [...]