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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]
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.
Microcephaly albinism digital anomalies syndrome is a very rare congenital genetic disease. The syndrome includes microcephaly , micrognathia , oculocutaneous albinism , hypoplasia of the distal phalanx of fingers , and agenesia of the distal end of the right big toe .
Achalasia microcephaly; Chest x-ray of an individual with achalasia. The arrows point to the areas of extreme esophageal dilation. Symptoms: Manifestation of achalasia: regurgitation, vomiting and dysphagia, alongside diagnosis of microcephaly: abnormally small head size below the third percentile as well as mild to moderate mental retardation.
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.
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]
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
Most cases have no symptoms, but when present they are usually mild and can resemble dengue fever. [1] [4] Symptoms may include fever, red eyes, joint pain, headache, and a maculopapular rash. [1] [2] [3] Symptoms generally last less than seven days. [2] It has not caused any reported deaths during the initial infection. [4]