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Macrocephaly
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==Diagnosis== Macrocephaly is customarily diagnosed if head circumference is greater than two [[standard deviation]]s (SDs) above the mean.<ref>{{cite book|last1=Fenichel|first1=Gerald M.|title=Clinical Pediatric Neurology: A Signs and Symptoms Approach|url=https://archive.org/details/clinicalpediatri00mdge|url-access=limited|date=2009|publisher=Saunders/Elsevier|location=Philadelphia, PA|isbn=978-1416061854|page=[https://archive.org/details/clinicalpediatri00mdge/page/n410 369]|edition=6th}}</ref> Relative macrocephaly occurs if the measure is less than two SDs above the mean, but is disproportionately above that when ethnicity and stature are considered. Diagnosis can be determined [[Uterus|in utero]] or can be determined within 18β24 months after birth in some cases where head circumference tends to stabilize in [[infant]]s.<ref name=":0">{{Cite web|title=Macrocephaly {{!}} Nicklaus Children's Hospital|url=https://www.nicklauschildrens.org/conditions/macrocephaly|website=www.nicklauschildrens.org|access-date=2020-04-11}}</ref> Diagnosis in infants includes measuring the circumference of the child's head and comparing how significant it falls above the 97.5 percentile of children similar to their demographic. If falling above the 97.5th percentile then the patient will be checked to determine whether there is any [[intracranial pressure]] present and whether or not immediate surgery is needed.<ref name=":02" /> If immediate surgery is not needed then further testing will be done to determine whether the patient has either macrocephaly or benign macrocephaly. Diagnosis for macrocephaly involves the comparison of the infant's head circumference to that of other infants of the same age and [[ethnicity]]. If a patient is suspected of having macrocephaly molecular testing will be used to confirm diagnosis. Symptoms vary on the cause of macrocephaly on the child and if the child has any other accompanying syndromes which will be determined through molecular testing. === Benign or familial macrocephaly === Benign macrocephaly can occur without reason or be inherited by one or both parents (in which it is considered benign familial macrocephaly and is considered a [[megalencephaly]] form of macrocephaly). Diagnosis for familial macrocephaly is determined by measuring the head circumference of both parents and comparing it to the child's. Benign and familial macrocephaly is not associated with [[neurological disorder]]s.<ref name=":02">{{Cite book|title=Signs and Symptoms of Genetic Conditions: A Handbook|others=Hudgins, Louanne,, Toriello, Helga V.,, Enns, Gregory M.,, Hoyme, H. Eugene|date = 30 May 2014|isbn=978-0-19-938869-1|location=Oxford|oclc=879421703}}</ref> While benign and familial macrocephaly do not result in neurological disorders, neurodevelopment will still need to be assessed.{{citation needed|date=September 2023}} Although neurological disorders do not occur, temporary symptoms of benign and familial macrocephaly include: [[Global developmental delay|developmental delay]], [[epilepsy]], and mild hypotonia.<ref name=":02" /> [[Neurodevelopment]] is assessed for all cases and suspected cases of macrocephaly to determine whether and what treatments may be needed, and whether any other syndrome/s may be present or likely to develop.{{citation needed|date=September 2023}} === Other forms === Other forms of macrocephaly include: * Macrocephaly at birth: congenital macrocephaly already present at birth.<ref>{{Cite web |title=Macrocephaly at birth (Concept Id: C1836599) |url=https://www.ncbi.nlm.nih.gov/medgen/322956 |access-date=2024-01-16 |website=www.ncbi.nlm.nih.gov |language=en}}</ref> * Postnatal macrocephaly: macrocephaly developed postnatally (after birth).<ref>{{Cite web |title=Postnatal macrocephaly (Concept Id: C1854417) |url=https://www.ncbi.nlm.nih.gov/medgen/340230 |access-date=2024-01-16 |website=www.ncbi.nlm.nih.gov |language=en}}</ref> * Progressive macrocephaly: macrocephaly developed progressively over time.<ref>{{Cite web |title=Progressive macrocephaly (Concept Id: C1859896) |url=https://www.ncbi.nlm.nih.gov/medgen/395368 |access-date=2024-01-16 |website=www.ncbi.nlm.nih.gov |language=en}}</ref> * Relative macrocephaly: mild macrocephaly measured under 2 [[Standard deviation|SD]] from mean, but larger in appearance due to other factors (ex. short stature).<ref>{{Cite web |title=Relative macrocephaly (Concept Id: C1849075) |url=https://www.ncbi.nlm.nih.gov/medgen/338607 |access-date=2024-01-16 |website=www.ncbi.nlm.nih.gov |language=en}}</ref>
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