Tag: Developmental Delay

Dravet Syndrome: Understanding This Severe Epilepsy

Dravet syndrome is a rare and catastrophic form of epilepsy that begins in infancy or early childhood. It is characterized by prolonged and recurrent...

Smith Lemli Opitz Syndrome: Understanding Its Impact & Care

Smith Lemli Opitz Syndrome is an autosomal recessive disorder that causes multiple congenital anomalies due to defective cholesterol metabolism. This syndrome restricts the growth...

Hunter Syndrome: Understanding This Rare Genetic Disorder

Hunter syndrome (also known as mucopolysaccharidosis II or MPS II) is a rare X-linked recessive lysosomal storage disorder with a significantly higher prevalence in...

Prader-Willi Syndrome: Understanding the Genetic Disorder

What is Prader-Willi Syndrome? Prader-Willi syndrome (PWS) is a rare multisystem genetic disorder affecting the metabolic, endocrine, and neurologic systems due to abnormalities on chromosome...

Biotinidase Deficiency: Understanding the Genetic Disorder

Biotinidase Deficiency is an inherited autosomal recessive disorder in which the enzyme biotinidase is deficient. The enzyme helps to recycle the vitamin biotin, and...