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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]
CASK, being a multidomain protein, is found to interact with multiple molecules including neurexin, [10] syndecan [11] and Mint1, [12] playing an important synaptic function, and also possibly plays a role in cell proliferation and cell polarization. [13] [14] In addition, CASK is now thought to be involved in neurotransmission. [15]
Microcephaly (from Neo-Latin microcephalia, from Ancient Greek μικρός mikrós "small" and κεφαλή kephalé "head" [2]) is a medical condition involving a smaller-than-normal head. [3] Microcephaly may be present at birth or it may develop in the first few years of life. [3]
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.
Cernunnos deficiency is a form of combined immunodeficiency characterized by microcephaly, due to mutations in the NHEJ1 gene, it is inherited via autosomal recessive manner [2] [1] Management for this condition is antiviral prophylaxis and antibiotic treatment.
Onset of symptoms is normally within the first year of life with truncal ataxia and seizures. The head is small (microcephaly). Common facial abnormalities include: [citation needed] Long narrow face; Prominent nose; Prominent jaw; Open mouth; Other common features include: [citation needed] Uncontrolled drooling; Abnormal eye movements
Clinical manifestations include microcephaly, cerebral dysgenesis, ... Diagnosis. This section is empty. You can help by adding to it. (July 2024) See also
Diagnosis is typically achieved by observation of symptoms; however, genetic testing provides a full confirmation. The microcephaly, intestinal atresia and some of the eye abnormalities are observable on prenatal ultrasound. [2] [4] Brain MRI scans can reveal any brain anomalies that could be associated with the syndrome. [4]