Macrocephaly: Difference between revisions

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{{CMG}} {{AE}} {{KD}}
{{CMG}} {{AE}} {{KD}}


{{SK}}  Macrocephalus; megacephaly; megalocephaly; head enlarged
{{SK}}  Macrocephalus; megacephaly; megalocephaly; head enlarged; big head; large head; enlarged head


==Overview==
==Overview==
Line 26: Line 26:
==Causes==
==Causes==
===Common Causes===
===Common Causes===
* [[   Hydrocephalus]]
 
* [[   Intraventricular hemorrhage]]
* [[Hydrocephalus]]
* [[   Acromegaly ]]
* [[Intraventricular hemorrhage]]
* [[   Rickets ]]
* [[Acromegaly ]]
* [[   Autism]]
* [[Rickets ]]
* [[   Hurler's syndrome]]
* [[Autism]]
* [[   Arnold-Chiari syndrome]]
* [[Hurler's syndrome]]
* [[    Arteriovenous malformation]]
* [[Arnold-Chiari syndrome]]
* [[Cerebral arteriovenous malformation]]
 
===Causes by Organ System===
 
{|style="width:80%; height:100px" border="1"
|style="height:100px"; style="width:25%" border="1" bgcolor="LightSteelBlue" | '''Cardiovascular'''
|style="height:100px"; style="width:75%" border="1" bgcolor="Beige" | [[        Cardiofaciocutaneous syndrome]], [[        Lujan-Fryns syndrome]], [[    Velocardiofacial syndrome]]
|-
|-bgcolor="LightSteelBlue"
| '''Chemical / poisoning'''
|bgcolor="Beige"| No underlying causes
|-
|-bgcolor="LightSteelBlue"
| '''Dermatologic'''
|bgcolor="Beige"| No underlying causes
|-
|-bgcolor="LightSteelBlue"
| '''Drug Side Effect'''
|bgcolor="Beige"| No underlying causes
|-
|-bgcolor="LightSteelBlue"
| '''Ear Nose Throat'''
|bgcolor="Beige"| No underlying causes
|-
|-bgcolor="LightSteelBlue"
| '''Endocrine'''
|bgcolor="Beige"| No underlying causes
|-
|-bgcolor="LightSteelBlue"
| '''Environmental'''
|bgcolor="Beige"| No underlying causes
|-
|-bgcolor="LightSteelBlue"
| '''Gastroenterologic'''
|bgcolor="Beige"| No underlying causes
|-
|-bgcolor="LightSteelBlue"
| '''Genetic'''
|bgcolor="Beige"| [[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]],
|-
|-bgcolor="LightSteelBlue"
| '''Hematologic'''
|bgcolor="Beige"| [[Sickle cell anemia]], [[Thalassemia major]]
|-
|-bgcolor="LightSteelBlue"
| '''Iatrogenic'''
|bgcolor="Beige"| No underlying causes
|-
|-bgcolor="LightSteelBlue"
| '''Infectious Disease'''
|bgcolor="Beige"| [[Congenital syphilis]]
|-
|-bgcolor="LightSteelBlue"
| '''Musculoskeletal / Ortho'''
|bgcolor="Beige"| [[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]]
|-
|-bgcolor="LightSteelBlue"
| '''Neurologic'''
|bgcolor="Beige"| [[Cerebral arteriovenous malformation]], [[Subarachnoid hemorrhage]], [[Aspartoacylase deficiency]], [[Bifunctional peroxisomal enzyme deficiency]], [[Opitz-Kaveggia syndrome]],[[Van der Knaap disease]], [[Neurofibromatosis]], [[Tuberous Sclerosis]]
|-
|-bgcolor="LightSteelBlue"
| '''Nutritional / Metabolic'''
|bgcolor="Beige"| [[Maple syrup urine disease]], [[Morquio's syndrome]], [[Sandhoff disease]], [[Tay-Sachs disease]], [[Alpha-mannosidase deficiency]]
|-
|-bgcolor="LightSteelBlue"
| '''Obstetric/Gynecologic'''
|bgcolor="Beige"| No underlying causes
|-
|-bgcolor="LightSteelBlue"
| '''Oncologic'''
|bgcolor="Beige"| [[Legius syndrome]], [[Proteus syndrome]], [[Neurofibromatosis]], [[Tuberous Sclerosis]], [[Cowden disease]]
|-
|-bgcolor="LightSteelBlue"
| '''Opthalmologic'''
|bgcolor="Beige"| No underlying causes
|-
|-bgcolor="LightSteelBlue"
| '''Overdose / Toxicity'''
|bgcolor="Beige"| No underlying causes
|-
|-bgcolor="LightSteelBlue"
| '''Psychiatric'''
|bgcolor="Beige"| No underlying causes
|-
|-bgcolor="LightSteelBlue"
| '''Pulmonary'''
|bgcolor="Beige"| No underlying causes
|-
|-bgcolor="LightSteelBlue"
| '''Renal / Electrolyte'''
|bgcolor="Beige"| No underlying causes
|-
|-bgcolor="LightSteelBlue"
| '''Rheum / Immune / Allergy'''
|bgcolor="Beige"| No underlying causes
|-
|-bgcolor="LightSteelBlue"
| '''Sexual'''
|bgcolor="Beige"| No underlying causes
|-
|-bgcolor="LightSteelBlue"
| '''Trauma'''
|bgcolor="Beige"| No underlying causes
|-
|-bgcolor="LightSteelBlue"
| '''Urologic'''
|bgcolor="Beige"| No underlying causes
|-
|-bgcolor="LightSteelBlue"
| '''Dental'''
|bgcolor="Beige"| No underlying causes
|-
|-bgcolor="LightSteelBlue"
| '''Miscellaneous'''
|bgcolor="Beige"| No underlying causes
|-
|}


===Causes in Alphabeical Order===
===Causes in Alphabeical Order===
{{MultiCol}}
{{MultiCol}}
* [[   Acro-osteolysis]]/[[Hadju-Cheney Syndrome]]
* [[Acro-osteolysis]]/[[Hadju Cheney Syndrome]]
* [[   Acrocallosal syndrome ]]
* [[Acrocallosal syndrome ]]
* [[   Acromegaly ]]
* [[Acromegaly ]]
* [[   Adducted thumbs-Mental retardation syndrome]]
* [[Adducted thumbs-Mental retardation syndrome]]
* [[   Alexander disease]]
* [[Alexander disease]]
* [[   Arnold-Chiari syndrome]]
* [[Atkin-Flaitz-Patil syndrome]]
* [[   Arteriovenous malformation]]
* [[Alpha-mannosidase deficiency]]
* [[   Autism]]
* [[Arnold-Chiari syndrome]]
* [[   Basal cell nevus syndrome]]
* [[Cerebral arteriovenous malformation]]
* [[   Canavan disease]]
* [[Autism]]
* [[   Cephalhematoma]]
* [[Basal cell nevus syndrome]]
* [[   Cretinism]]
* [[Bannayan–Riley–Ruvalcaba syndrome]]
* [[   Congenital syphilis]]
* [[Canavan disease]]
* [[   Cowden disease]]
* [[Cephalhematoma]]
* [[   Dandy-Walker syndrome]]
* [[Cardiofaciocutaneous syndrome]]
* [[   Fetal CVA disorder]]
* [[Craniofacial dysmorphism-polysyndactyly syndrome]]
* [[   Fragile X syndrome]]
* [[Cretinism]]
* [[   GM1 gangliosidoses ]]
* [[Congenital syphilis]]
* [[   Glutaric aciduria]]
* [[Cowden disease]]
* [[   Hunter's syndrome]]
* [[Dandy-Walker syndrome]]
* [[   Hurler's syndrome]]
* [[Desmosterolosis]]
* [[   Hydrocephalus]]
* [[Fetal CVA disorder]]
* [[   Hyperphosphatemia]]
* [[Fragile X syndrome]]
* [[   Incontinentia pigmenti]]
* [[GM1 gangliosidoses ]]
* [[   Intracranial mass]]
* [[Glutaric aciduria]]
* [[   Intraventricular hemorrhage]]
* [[Hunter's syndrome]]
* [[Hurler's syndrome]]
* [[Hydrocephalus]]
* [[Hyperphosphatemia]]
* [[Incontinentia pigmenti]]
* [[Intracranial mass]]
* [[Intraventricular hemorrhage]]
* [[Kenny-Caffey syndrome]]
* [[Klippel-Feil syndrome]]
* [[Krabbe disease]]
{{ColBreak}}
{{ColBreak}}
* [[   Kenny-Caffey syndrome]]
* [[Leguis syndrome]]
* [[   Klippel-Feil syndrome]]
* [[Lujan-Fryns syndrome]]
* [[   Krabbe disease]]
* [[Macrocephaly-capillary malformation]]
* [[   Leguis syndrome]]
* [[Maple syrup urine disease]]
* [[   Maple syrup urine disease]]
* [[Morquio's  syndrome]]
* [[   Morquio's  syndrome]]
* [[Mucolipidosis II alpha/beta]]
* [[   Neuhauser Syndrome]]
* [[Mucopolysaccharidosis VII]]
* [[   Neurofibromatosis]]
* [[Multiple hamartoma syndrome]]
* [[   Osteogenesis imperfecta]]
* [[Muenke syndrome]]
* [[   Osteopathia striata with cranial stenosis]]
* [[Neuhauser Syndrome]]
* [[   Osteopetrosis]]  
* [[Neurofibromatosis]]
* [[   Paget's disease]]
* [[Opitz-Kaveggia syndrome]]
* [[   Subarachnoid hemorrhage]]
* [[Osteogenesis imperfecta]]
* [[   Rickets ]]
* [[Osteopathia striata with cranial sclerosis]]
* [[   Robinow dwarfing syndrome]]
* [[Osteopetrosis]]  
* [[   Rubinstein-Taybi syndrome]]
* [[Paget's disease]]
* [[   Sandhoff disease]]
* [[Proteus syndrome]]
* [[   Sickle cell anemia]]
* [[Rickets ]]
* [[   Sotos syndrome]]
* [[Robinow dwarfing syndrome]]
* [[   Tay-Sachs disease]]
* [[Rubinstein-Taybi syndrome]]
* [[   Thalassemia major]]
* [[Sandhoff disease]]
* [[   Tuberous Sclerosis]]
* [[Sickle cell anemia]]
* [[   Velocardiofacial  syndrome]]
* [[Simpson-Golabi-Behmel Syndrome]]
* [[   Weaver syndrome]]
* [[Sotos syndrome]]
* [[   Wiedemann-Rautenstrauch 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 ]]
  {{EndMultiCol}}
  {{EndMultiCol}}


==Diagnosis==
==Diagnosis==
===Symptoms===
Increased pressure in the head ([[increased intracranial pressure]]) often occurs with increased head circumference. Symptoms of this condition include:
* [[Irritability]]
* [[Vomiting]]
===Physical Examination===
====Head====


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.<ref name=Williams>{{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}}</ref>
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.<ref name=Williams>{{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}}</ref>


====Eyes====
* [[Eyes moving downward]]


==Related Chapters==
==Related Chapters==
Line 106: Line 252:
[[Category:Genetic disorders]]
[[Category:Genetic disorders]]
[[Category:Nervous system]]
[[Category:Nervous system]]
[[Category:Medical signs]]
[[Category:Signs and symptoms]]
[[Category:Signs and symptoms]]
[[Category:Pediatrics]]
[[Category:Pediatrics]]
[[Category:FLK]]
[[Category:FLK]]
[[Category:Disease]]
[[Category:Physical examination]]


[[es:Macrocefalia (medicina)]]
[[es:Macrocefalia (medicina)]]

Latest revision as of 13:42, 10 June 2015

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

WikiDoc Resources for Macrocephaly

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Experimental / Informatics

List of terms related to Macrocephaly

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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