Macrocephaly

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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; 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

Related Chapters

References

  1. Williams CA, Dagli A, Battaglia A (2008). "Genetic disorders associated with macrocephaly". Am J Med Genet A. 146A (16): 2023–37. doi:10.1002/ajmg.a.32434. PMID 18629877.



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