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 by Organ System

Cardiovascular	Cardiofaciocutaneous syndrome, Lujan-Fryns syndrome, Velocardiofacial syndrome
Chemical / poisoning	No underlying causes
Dermatologic	No underlying causes
Drug Side Effect	No underlying causes
Ear Nose Throat	No underlying causes
Endocrine	No underlying causes
Environmental	No underlying causes
Gastroenterologic	No underlying causes
Genetic	Alpha-mannosidase deficiency, Aspartoacylase deficiency, Atkin-Flaitz-Patil syndrome, Bifunctional peroxisomal enzyme deficiency, Cardiofaciocutaneous syndrome, Craniofacial dysmorphism-polysyndactyly syndrome, D-2-hydroxyglutarate dehydrogenase deficiency, Desmosterolosis, Hyperostosis corticalis deformans juvenilis, Legius syndrome, Lujan-Fryns syndrome, Macrocephaly-capillary malformation, Mucolipidosis II alpha/beta, Mucopolysaccharidosis VII, Muenke syndrome, Opitz-Kaveggia syndrome, Osteopathia striata with cranial sclerosis, Proteus syndrome, Toriello-Carey syndrome, Van der Knaap disease , Waisman-Laxova syndrome, Maple syrup urine disease, Morquio's syndrome, Neuhauser Syndrome, Neurofibromatosis, Osteogenesis imperfecta, Osteopathia striata with cranial stenosis, Osteopetrosis , Paget's disease , Robinow dwarfing syndrome, Rubinstein-Taybi syndrome, Sandhoff disease, Tay-Sachs disease, Tuberous Sclerosis, Velocardiofacial syndrome, Weaver syndrome, Wiedemann-Rautenstrauch syndrome , Cowden disease, Legius syndrome,
Hematologic	Sickle cell anemia, Thalassemia major
Iatrogenic	No underlying causes
Infectious Disease	Congenital syphilis
Musculoskeletal / Ortho	Thanatophoric dysplasia, Rickets , Alpha-mannosidase deficiency, Craniofacial dysmorphism-polysyndactyly syndrome, Desmosterolosis, Hyperostosis corticalis deformans juvenilis, Muenke syndrome, Osteogenesis imperfecta, Osteopathia striata with cranial stenosis, Osteopetrosis , Paget's disease , Robinow dwarfing syndrome, Rubinstein-Taybi syndrome, Weaver syndrome
Neurologic	Cerebral arteriovenous malformation, Subarachnoid hemorrhage, Aspartoacylase deficiency, Bifunctional peroxisomal enzyme deficiency, Opitz-Kaveggia syndrome, Van der Knaap disease , Neurofibromatosis, Tuberous Sclerosis
Nutritional / Metabolic	Maple syrup urine disease, Morquio's syndrome, Sandhoff disease, Tay-Sachs disease, Alpha-mannosidase deficiency
Obstetric/Gynecologic	No underlying causes
Oncologic	Legius syndrome, Proteus syndrome, Neurofibromatosis, Tuberous Sclerosis, Cowden disease, Legius syndrome
Opthalmologic	No underlying causes
Overdose / Toxicity	No underlying causes
Psychiatric	No underlying causes
Pulmonary	No underlying causes
Renal / Electrolyte	No underlying causes
Rheum / Immune / Allergy	No underlying causes
Sexual	No underlying causes
Trauma	No underlying causes
Urologic	No underlying causes
Dental	No underlying causes
Miscellaneous	No underlying causes

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 Cerebral 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 Rickets Robinow dwarfing syndrome Rubinstein-Taybi syndrome Sandhoff disease Sickle cell anemia Simpson-Golabi-Behmel Syndrome Sotos syndrome Subarachnoid hemorrhage 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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