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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).
Babies are often born small and have heart defects. [3] Other features include a small head, small jaw, clenched fists with overlapping fingers, and severe intellectual disability. Most cases of trisomy 18 occur due to problems during the formation of the reproductive cells or during early development. [3]
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Encephaloceles are often accompanied by craniofacial abnormalities or other brain malformations. Symptoms may include neurologic problems, hydrocephalus (cerebrospinal fluid accumulated in the brain), spastic quadriplegia (paralysis of the limbs), microcephaly (an abnormally small head), ataxia (uncoordinated muscle movement), developmental delay, vision problems, mental and growth retardation ...
Only a comparatively small part of the head at term is represented by the face. The rest of the head is composed of the firm skull, which is made up of two frontal, two parietal, and two temporal bones, along with the upper portion of the occipital bone and the wings of the sphenoid. These bones are separated by membranous spaces, or sutures.
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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 ...