Select a specific condition below to view its details.
- Hard syndrome
Congenital muscular dystrophy in its most severe form, hard +/-e syndrome, is accompanied by abnormalities of the brain and eyes. Typical signs and symptoms include hypotonia, muscle weakness, developmental delay, intellectual dysfunction, and sporadically occurring seizures. Lissencephaly, hydrocephalus, cerebellar deformities, eye abnormalities, and other abnormalities are also linked to it. Although the genetic etiology is Read More
- Mucopolysaccharidosis type iii
Mucopolysaccharidosis type III, also known as Sanfilippo syndrome, is an inborn error in the metabolism of mucopolysaccharides. It reflects in deficiency or little activity of enzymes required for the catabolism of mucopolysaccharides leading to its accumulation. The disease presents with neurological manifestations such as autism, intellectual disability, behavioral problems, sleep disturbances, developmental regression, and Read More
- Multiple pterygium syndrome
Multiple pterygium syndrome is a rare genetic disorder characterized by pterygium of multiple parts of the body, including the neck, fingers, elbow, armpits, thighs, and back of knees. Pterygium refers to the webbing of the skin. The condition is congenital, and progression is prenatal. There are two types of multiple pterygium diseases: Escobar and lethal. Escobar form, also known as Escobar syndrome, is a milder form and pre Read More