- Macrocephaly
Infobox_Disease
Name = PAGENAME
Caption = An MRI of a patient with benign familial macrocephaly (male with head circumference > 60cm)
DiseasesDB = 22519
ICD10 = ICD10|Q|75|3|q|65
ICD9 = ICD9|756.0
ICDO =
OMIM = 248000
MedlinePlus = 003305
eMedicineSubj =
eMedicineTopic =
MeshID =Macrocephaly (from the
ancient Greek "μακρό-" "macro-" long- + "-κέφαλος" "-kephalos" -head), occurs when the head is abnormally large; this includes thescalp , thecranial bone , and the contents of the cranium.Causes
Macrocephaly may be due to
megalencephaly (enlarged brain), tohydrocephalus (water on the brain), cranialhyperostosis (bone overgrowth), and other conditions. It is called "syndromic" when it is associated with any other noteworthy condition, and "non-syndromic" otherwise. It can be caused by genetic conditions or by environmental events.Many genetic conditions are associated with macrocephaly, including familial macrocephaly,
autism ,PTEN mutations such asCowden disease ,neurofibromatosis type 1, andtuberous sclerosis ; overgrowth syndromes such asSotos syndrome (cerebral gigantism),Weaver syndrome ,Simpson-Golabi-Behmel syndrome (Bulldog syndrome), and macrocephaly capillary malformation (M-CMTC) syndrome; neuro-cardio-facial-cutaneous syndromes such asNoonan syndrome ,Costello syndrome , andcardiofaciocutaneous syndrome ;Fragile X syndrome ;leukodystrophies (brainwhite matter degeneration) such asAlexander disease ,Canavan disease , andmegalencephalic leukoencephalopathy with subcortical cysts ; andglutaric aciduria type 1 andD-2-hydroxyglutaric aciduria .Environmental events associated with macrocephaly include infection, neonatal
intraventricular hemorrhage (bleeding within the infant brain), subdural effusion (collection ofpus beneath the outer lining of the brain), andarachnoid cyst s (cysts on the brain surface).Diagnosis
Macrocephaly is customarily diagnosed if head circumference is greater than 2
standard deviation s (SD) above the mean. Relative macrocephaly occurs if the measure is less than 2 SD above the mean but is disproportionately above that when ethnicity and stature are considered. In research, cranial height or brain imaging are also used to determine intracranial volume more accurately.cite journal |journal= Am J Med Genet A |date=2008 |volume=146A |issue=16 |pages=2023–37 |title= Genetic disorders associated with macrocephaly |author= Williams CA, Dagli A, Battaglia A |doi=10.1002/ajmg.a.32434 |pmid=18629877]ee also
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Microcephaly References
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