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; big head; large head; enlarged head
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
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, Glutaric aciduria, 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 sclerosis, 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,
|
| 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 sclerosis, 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
|
| 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
Diagnosis
Symptoms
Increased pressure in the head (increased intracranial pressure) often occurs with increased head circumference. Symptoms of this condition include:
Physical Examination
Head
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.[1]
Eyes
References
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