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Spastic tetraplegia, thin corpus callosum, and progressive microcephaly (often referred to by its acronym SPATCCM) is a rare autosomal recessive disease caused by mutations in the SLC1A4 gene encoding the ASCT1 protein.
Infants with microcephaly are born with either a normal or reduced head size. [9] Subsequently, the head fails to grow, while the face continues to develop at a normal rate, producing a child with a small head and a receding forehead, and a loose, often wrinkled scalp. [10]
One-, two-, and three-year survival rates of 60%, 26%, and 14%, respectively [2] Krabbe disease ( KD ) (also known as globoid cell leukodystrophy [ 3 ] or galactosylceramide lipidosis ) is a rare and often fatal lysosomal storage disease that results in progressive damage to the nervous system .
The combination of lissencephaly with severe congenital microcephaly is designated as microlissencephaly only when the cortex is abnormally thick. If such combination exists with a normal cortical thickness (2.5 to 3 mm [ 4 ] ), it is known as " microcephaly with simplified gyral pattern " (MSGP). [ 5 ]
Achalasia microcephaly syndrome is a rare condition whereby achalasia in the oesophagus manifests alongside microcephaly and intellectual disability. This is a rare ...
Amish lethal microcephaly is a rare genetic disorder which is characterized by severe microcephaly (small head) from birth, brain hypoplasia (underdeveloped brain), micrognathia (small chin), irritability (at second or third month of age), seizures, problems controlling their body temperature, high levels of alpha-ketogluraic acid in their urine, [2] and less commonly hepatomegaly (large liver).
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Mandibulofacial dysostosis with microcephaly syndrome, also known as growth delay-intellectual disability-mandibulofacial dysostosis-microcephaly-cleft palate syndrome, mandibulofacial dysostosis, guion-almeida type, or simply as MFDM syndrome is a rare genetic disorder which is characterized by developmental delays, intellectual disabilities, and craniofacial dysmorphisms.