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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 ]
Microcephaly lymphoedema chorioretinal dysplasia also known as lymphedema microcephaly chorioretinopathy syndrome [1] is a rare genetic condition associated with: Small head (Microcephaly) Puffy feet (Lymphoedema) Eye problems (Chorio-retinal dysplasia i.e. changes in the retina)
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).
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.
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It is characterized by intrauterine growth restriction and postnatal dwarfism with a small head, narrow bird-like face with a beak-like nose, large eyes with down-slanting palpebral fissures, [3] receding mandible and intellectual disability. A mouse model has been developed. [4] This mouse model is characterized by a severe deficiency of ATR ...
Microlissencephaly (MLIS) is a rare congenital brain disorder that combines severe microcephaly (small head) with lissencephaly (smooth brain surface due to absent sulci and gyri). Microlissencephaly is a heterogeneous disorder, i.e. it has many different causes and a variable clinical course. [1]
reduced head length and width for age Turricephaly is a type of cephalic disorder where the head appears tall with a small length and width. [ 3 ] [ 4 ] It is due to premature closure of the coronal suture plus any other suture , like the lambdoid , [ 5 ] or it may be used to describe the premature fusion of all sutures. [ 2 ]