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Hypotonia is a state of low muscle tone [1] (the amount of tension or resistance to stretch in a muscle), often involving reduced muscle strength. Hypotonia is not a specific medical disorder, but a potential manifestation of many different diseases and disorders that affect motor nerve control by the brain or muscle strength.
Jordan's syndrome (JS) or PPP2R5D-related intellectual disability is a rare autosomal dominant neurodevelopmental disorder caused by de novo mutations in the PPP2R5D gene. [2] It is characterized by hypotonia, intellectual disability, and macrocephaly. [3] Children with JS may also have epilepsy or meet criteria for diagnosis with autism ...
Qazi–Markouizos syndrome is a rare hereditary condition characterized by non-progressive, congenital hypotonia, severe intellectual disability, an increased proportion of type 2 muscle fibers, which additionally exhibit increased size, as well as dysharmonic skeletal maturation.
1p36 deletion syndrome is a congenital genetic disorder characterized by moderate to severe intellectual disability, delayed growth, hypotonia, seizures, limited speech ability, malformations, hearing and vision impairment, and distinct facial features. The symptoms may vary, depending on the exact location of the chromosomal deletion. [1]
HIDEA syndrome is a syndrome characterised by hypotonia, hypoventilation, intellectual disability, dysautonomia, epilepsy, and eye abnormalities. It is caused by the mutation of the P4HTM gene on chromosome 3. [1]
The disorder may be accompanied by autism, [1] mild intellectual disability, delayed motor, cognitive, and social development, hypotonia (low muscle tone), and speech impairments. Children with Sotos syndrome tend to be large at birth and are often taller, heavier, and have relatively large skulls ( macrocephaly ) than is normal for their age.
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