Joubert syndrome is an autosomal-recessive disorder characterized by brain stem and cerebral malformation, as well as central nervous system deficits and motor difficulties. Children affected with this syndrome exhibit developmental delay, apnea during infancy, limited fine and gross motor coordination, and abnormal eye movement. Some neonates may have tachypnea, abnormal breathing similar to the panting of a dog. Tachypnea typically improves and disappears with age and is followed by apnea.
A rare, autosomal-recessive neurological disorder, marked by failure of development of the vermis cerebelli and by improper formation of the brainstem and medulla.
A genetic disorder that’s autosomal recessive and present from birth causes a portion of the cerebellum, situated at the brain’s rear, to not develop correctly. Children with this condition exhibit issues with balance and coordination, irregular breathing rhythms, reduced muscle tone (known as hypotonia), and in some cases, seizures.