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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]
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 ...
Microcephalic primordial dwarfism, Montreal type is a rare, multi-systemic genetic disorder that is characterized by cranio-facial dysmorphy, premature hair greying and balding, dry and wrinkled palms, skeletal abnormalities, cryptorchidism, premature dementia and intellectual disabilities of variable severity. [1]
Symptoms include a small head and a specific facial appearance, severe intellectual disability, developmental disability, limited to no functional speech, balance and movement problems, seizures, and sleep problems. [6] Children usually have a happy personality and have a particular interest in water. [6]
Small head (Microcephaly) Puffy feet (Lymphoedema) Eye problems (Chorio-retinal dysplasia i.e. changes in the retina) In 1992, Feingold and Bartoshesky described two unrelated children with microcephaly, lymphoedema and chorioretinal dysplasia (MIM 152950) as a distinct entity.
Lenz microphthalmia syndrome is inherited as an X-linked recessive genetic trait and is fully expressed in males only. Females who carry one copy of the disease gene (heterozygotes) may exhibit some of the symptoms associated with the disorder, such as an abnormally small head (microcephaly), short stature, or malformations of the fingers or toes.
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.
Other features of Pitt-Hopkins syndrome may include constipation and other gastrointestinal problems, an unusually small head (microcephaly), nearsightedness (myopia), eyes that do not look in the same direction (strabismus), short stature, and minor brain abnormalities [12] Adults who have PTHS may have trouble with their speech. [10]
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