Macrocephaly

Macrocephaly
ICD-10	Q75.3
ICD-9	756.0
OMIM	248000
DiseasesDB	22519
MedlinePlus	003305

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Kalsang Dolma, M.B.B.S.[2]

Synonyms and keywords: Macrocephalus; megacephaly; megalocephaly; head enlarged

Overview

Macrocephaly (from the Greek words μακρύς, meaning "long", and κεφάλη, meaning "head"), is when thehead circumference is larger than average for the age and sex of the infant or child.

Causes

Common Causes

• Hydrocephalus
• Intraventricular hemorrhage
• Acromegaly
• Rickets
• Autism
• Hurler's syndrome
• Arnold-Chiari syndrome
• Arteriovenous malformation

Causes in Alphabeical Order

Acro-osteolysis/Hadju Cheney Syndrome Acrocallosal syndrome Acromegaly Adducted thumbs-Mental retardation syndrome Alexander disease Atkin-Flaitz-Patil syndrome Alpha-mannosidase deficiency Arnold-Chiari syndrome Arteriovenous malformation Autism Basal cell nevus syndrome Bannayan–Riley–Ruvalcaba syndrome Canavan disease Cephalhematoma Cardiofaciocutaneous syndrome Craniofacial dysmorphism-polysyndactyly syndrome Cretinism Congenital syphilis Cowden disease Dandy-Walker syndrome Desmosterolosis Fetal CVA disorder Fragile X syndrome GM1 gangliosidoses Glutaric aciduria Hunter's syndrome Hurler's syndrome Hydrocephalus Hyperphosphatemia Incontinentia pigmenti Intracranial mass Intraventricular hemorrhage Kenny-Caffey syndrome Klippel-Feil syndrome Krabbe disease

Leguis syndrome Lujan-Fryns syndrome Macrocephaly-capillary malformation Maple syrup urine disease Morquio's syndrome Mucolipidosis II alpha/beta Mucopolysaccharidosis VII Multiple hamartoma syndrome Muenke syndrome Neuhauser Syndrome Neurofibromatosis Opitz-Kaveggia syndrome Osteogenesis imperfecta Osteopathia striata with cranial sclerosis Osteopetrosis Paget's disease Proteus syndrome Simpson-Golabi-Benel Syndrome Subarachnoid hemorrhage Rickets Robinow dwarfing syndrome Rubinstein-Taybi syndrome Sandhoff disease Sickle cell anemia Sotos syndrome Tay-Sachs disease Thalassemia major Thanatophoric dysplasia Toriello-Carey syndrome Tuberous Sclerosis van der Knaap disease Velocardiofacial syndrome Waisman-Laxova syndrome Weaver syndrome Wiedemann-Rautenstrauch syndrome

Diagnosis

Macrocephaly is customarily diagnosed if head circumference is greater than 2 standard deviations (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.

Related Chapters

• Microcephaly

References

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