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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]
Signs and symptoms [ edit ] The symptoms of MICPCH include progressive microcephaly , hypotonia , intellectual disability, possible optic atrophy, motor disabilities, brainstem/cerebellar hypoplasia ( PCH ), and, in forty percent of cases, epilepsy.
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.
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 .
GLUT1 deficiency is characterized by an array of signs and symptoms including mental and motor developmental delays, infantile seizures refractory to anticonvulsants, ataxia, dystonia, dysarthria, opsoclonus, spasticity, other paroxysmal neurologic phenomena and sometimes deceleration of head growth also known as microcephaly. The presence and ...
Dubowitz syndrome is a rare genetic disorder characterized by microcephaly, stunted growth, and a receding chin.Symptoms vary among patients, but other characteristics include a soft, high-pitched voice, partial webbing of the fingers and toes, palate deformations, genital abnormalities, language difficulties, and an aversion to crowds. [2]
The symptoms of Filippi Syndrome can be congenital (apparent as an infant). [1] The occurrence and severity of such symptoms are variable across affected individuals. [1] [2] The progression of symptoms over one's lifetime has not been thoroughly studied due to the small number of people with Filippi Syndrome globally.
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.