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The main signs of achalasia microcephaly syndrome involve the manifestation of each individual disease associated with the condition. Microcephaly can be primary, where the brain fails to develop properly during pregnancy, or secondary, where the brain is normal sized at birth but fails to grow as the child ages. [2]
There is no known cure for microcephaly. [3] Treatment is symptomatic and supportive. [3] Because some cases of microcephaly and its associated symptoms may be a result of amino acid deficiencies, treatment with amino acids in these cases has been shown to improve symptoms such as seizures and motor function delays. [69]
Microcephaly is a characteristic in which the circumference of the head is smaller than normal due to improper development of the brain. It is caused by genetic disorders, infections, radiation, medications or alcohol use during pregnancy. Defects in the growth of the cerebral cortex lead to many of the features associated with microcephaly. [4]
About one third of children whose mothers are taking this drug during pregnancy typically have intrauterine growth restriction with a small head and develop minor dysmorphic craniofacial features (microcephaly and intellectual disability) and limb defects including hypoplastic nails and distal phalanges (birth defects).
[1] [4] Symptoms may include fever, red eyes, joint pain, headache, and a maculopapular rash. [1] [2] [3] Symptoms generally last less than seven days. [2] It has not caused any reported deaths during the initial infection. [4] Mother-to-child transmission during pregnancy can cause microcephaly and other brain malformations in some babies.
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 ...
If left untreated (and often even in treatment), complications of PKU include severe intellectual disability, brain function abnormalities, microcephaly, mood disorders, irregular motor functioning, and behavioral problems such as attention deficit hyperactivity disorder, as well as physical symptoms such as a "musty" odor, eczema, and ...
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.