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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 ]
Infants with GLUT1 deficiency syndrome have a normal head size at birth, but the growth of the brain and skull is slow, in severe cases resulting in an abnormally small head size (microcephaly). [4] Typically, seizures start between one and four months in 90% of cases with abnormal eye movements and apneic episodes preceding the onset of ...
Microphthalmia (Greek: μικρός, mikros, 'small', ὀφθαλμός, ophthalmos, 'eye'), also referred as microphthalmos, is a developmental disorder of the eye in which one (unilateral microphthalmia) or both (bilateral microphthalmia) eyes are abnormally small and have anatomic malformations.
In general practice, the term is used to describe the children with three or more cranial sutures closed. [16] Pansynostosis can present in several ways. The appearance can be the same as that seen with primary microcephaly: a markedly small head, but with normal proportions. [17]
Alpha-thalassemia mental retardation syndrome (ATRX), also called alpha-thalassemia X-linked intellectual disability syndrome, nondeletion type or ATR-X syndrome, [1] is an X-linked recessive condition associated with a mutation in the ATRX gene. [2]
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]
Consequently, achalasia microcephaly, which has a familial predisposition, is an extremely rare syndrome. Current cases of achalasia microcephaly have only implicated children in its pathogenesis and there are only five, separate, known cases as of 2017. These cases involve a total of nine children, where each case refers to individual affected ...
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 ...