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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]
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).
MICPCH is diagnosed following an MRI displaying pontocerebellar hypoplasia and positive genetic testing for a pathogenic or likely-pathogenic mutation of the CASK gene. Initial testing tends to occur following a diagnosis of microcephaly in the first year of life. A diagnostic ICD-10 code has been assigned to MICPCH: Q04.3.
Jaxon Strong was born with microhydranencephaly a form of microcephaly -- a birth defect that affects the brain and that has recently made headlines due to links to the Zika virus.
Clinically, patients present with microcephaly and significant developmental delay. While some patients may be able to walk, others may not due to spasticity of limbs and hypotonic muscle tone, with progressive degeneration over time. Patients may also present with seizures, ranging from single febrile seizure to intractable epilepsy.
The main symptoms of achalasia microcephaly syndrome are the progressive manifestation of the major symptoms associated with the individual diseases, in young children. Achalasia causes dysphagia, which leads to difficulties when eating, frequent vomiting after meals and possible respiratory arrest due to chronic aspiration.
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.