II. Exam: Head Size Measurement
- Normal term newborn Head Circumference: 33 to 38 cm
- Technique
- Measuring tape around frontal forehead and occiput
- Take largest of several measurements
III. Causes: Macrocephaly
- Familial with Autosomal Dominant inheritance
- Hydrocephalus
- Other conditions
- Achondroplasia (skeletal dysplasia)
- Sotos' Syndrome (Cerebral Gigantism)
- Alexander's Disease
- Canavan's Disease
- Gangliosidoses
- Glutaric aciduria Type I
- Neurofibromatosis Type I
IV. Causes: Microcephaly
- Familial
- Trisomy 13
- Trisomy 18 (Edward Syndrome)
- Trisomy 21 (Down Syndrome)
- Cornelia de Lange
- Rubinstein-Taybi
- Smith-Lemli-Opitz
- Prader-Willi
-
Teratogen Exposure
- Fetal Alcohol Syndrome
- Radiation exposure in utero (<15 weeks gestation)
- Fetal Hydantoin
- TORCH Virus congenital infection
- Other causes
- Meningitis or Encephalitis
- Gestational Diabetes
- Maternal hyperphenylalaninemia
- Hypoxic-ischemic encephalopathy
V. Diagnostic evaluation for Microcephaly
- Maternal Phenylalanine level
- Karyotype of child for suspected Congenital Abnormality
- Head imaging (Head Ultrasound, Head CT, Head MRI)
- Amino Acid analysis (Fasting plasma and urine)
- Serum ammonium
- TORCH Virus serum titers (mother and child)
- Urine Culture for Cytomegalovirus
VI. References
- Behrman (2000) Nelson Pediatrics, Saunders, p. 1809
- Goetz (1999) Clinical Neurology, Saunders, p. 512
- Fuloria (2002) Am Fam Physician 65(1):61-8 [PubMed]
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Related Studies
| Definition (MSHCZE) | Abnormálně symetricky malá hlava daná primárně buď zpomaleným a nedostatečným vývinem mozku, nebo předčasnou synostózou (v tomto případě je vždy zmenšen i mozek). Obě příčiny působí zpravidla již ve fetálním období, ale vyvíjejí se dále postnatálně v prvních dvou letech života. Škody na mozku (snížení intelektu, psychomotorická retardace, slepota aj.) jsou závislé na růstové aktivitě kostí ve švech a zvětšující se velikosti mozku. Cefalický index je nad 85. M. se vyskytuje např. jako jeden ze symptomů řady genetických syndromů nebo samostatně v rámci vrozené vývojové vady (alterace mozku v prenatálním a časně postnatálním období infekčním agens, intoxikací, závažnou hypoxií, zářením aj.). (cit. Velký lékařský slovník online, 2012 http://lekarske.slovniky.cz/ ) |
| Definition (NCI) | A congenital or acquired developmental disorder in which the circumference of the head is smaller than normal for the person's age and sex. It is the result of brain developmental delay. |
| Definition (PSY) | Smallness of the head produced by incomplete development of the brain, often associated with below normal mental and cognitive development. |
| Definition (CSP) | abnormal smallness of the brain. |
| Definition (MSH) | A congenital abnormality in which the CEREBRUM is underdeveloped, the fontanels close prematurely, and, as a result, the head is small. (Desk Reference for Neuroscience, 2nd ed.) |
| Concepts | Congenital Abnormality (T019) |
| MSH | D008831 |
| ICD9 | 742.1 |
| ICD10 | Q02 |
| SnomedCT | 156893009, 204030002, 204031003, 1829003 |
| English | Microcephalies, Microcephaly, Microcephalic, micrencephaly, MICROCEPHALY, Microcephalus NOS, microencephaly, microcephalus (diagnosis), microcephaly (physical finding), microcephalus, micrencephala, microcephaly, microcephaly was seen, Microencephaly, Microcephaly [Disease/Finding], microcephalies, microcephali, microcephalic, Microcephaly (disorder), Micrencephaly (disorder), Microcephalus NOS (disorder), Microcephalus, Micrencephaly, Nanocephaly, Microcephalus (disorder), micrencephalon |
| French | MICROCEPHALIE, Microcéphalique, Microencéphalie, Microcéphalie |
| Portuguese | MICROCEFALIA, Microcefálico, Microencefalia, Microencéfalo, Microcéfalo, Microcefalia |
| Spanish | MICROCEFALIA, Microcefálico, Microencefalia, microcéfalo, SAI (trastorno), microcéfalo, SAI, microcefalia (trastorno), Microcéfalo, Microencéfalo, microcefalia, microcéfalo (trastorno), microcéfalo, microencefalia, Microcefalia |
| Dutch | microcefalisch, microcefalus, micro-encefalie, microcefalie, Microcefalie |
| German | mikrozephalisch, MIKROZEPHALUS, Mikroenzephalie, Mikrozephalus, Mikrozephalie |
| Italian | Microcefalico, Microencefalia, Microcefalia |
| Japanese | 小頭症, ｼｮｳﾄｳｼｮｳ, 小脳症, ｼｮｳﾉｳｼｮｳ |
| Swedish | Mikrocefali |
| Czech | mikrocefalie, Mikrocefalie, Mikrocefalus, Mikroencefalie, mikrocephalus, mikrocefalus |
| Finnish | Mikrokefalia |
| Russian | MIKROTSEFALIIA, МИКРОЦЕФАЛИЯ |
| Korean | 소두증 |
| Polish | Małogłowie, Mikrocefalia |
| Hungarian | Microcephalus, Microcephalia, Microencephalus |
| Norwegian | Microcefali, Mikrocefali |
Ontology: Macrocephaly (C0221355)
| Definition (MSH) | A congenital abnormality in which the occipitofrontal circumference is greater than two standard deviations above the mean for a given age. It is associated with HYDROCEPHALUS; SUBDURAL EFFUSION; ARACHNOID CYSTS; or is part of a genetic condition (e.g., ALEXANDER DISEASE; SOTOS SYNDROME). |
| Definition (MSHCZE) | Abnormálně symetricky velká hlava, cefalický index je pod 75. Nejč. vzniká sekundárně při chronickém hydrocefalu z nejrůznějších příčin, a to v době, kdy lebeční švy nejsou ještě synostoticky srostlé nebo vzácněji při primární makrocefalii. Na rtg snímku lbi jsou vidět rozestouplé lební švy a ztenčení kostí lebních. Opak mikrocefalus. (cit. Velký lékařský slovník online, 2013 http://lekarske.slovniky.cz/ ) |
| Definition (NCI) | An abnormally large head. Causes include hydrocephalus, enlarged brain, and cranial hyperostosis. |
| Concepts | Congenital Abnormality (T019) |
| MSH | D058627 |
| ICD10 | Q75.3 |
| SnomedCT | 205420008, 268154006, 204070009, 19410003, 9740002 |
| English | Macrocephaly, Macroencephaly, Macrocephalies, macrencephaly, megalencephaly, macrocephalus, macrocephaly, macroencephaly, Macrocephaly [Disease/Finding], Megalencephalies, Megalencephaly, Megacephaly, Megalocephaly, Megacephalies, Megalocephalies, Macrocephalus, Macrocephaly (disorder), megalocephaly, Macrocephaly NOS |
| Dutch | macrocefalie, macrocefalie NAO, Macrocefalie |
| French | Macrocéphalie SAI, Macrocéphalie |
| German | Makrozephalie NNB, Makrozephalie |
| Italian | Macrocefalia NAS, Macrocefalia |
| Portuguese | Macrocefalia NE, Macrocefalia |
| Spanish | Macrocefalia NEOM, Macrocefalia, macrocefalia (trastorno), macrocefalia, macrocéfalo |
| Japanese | 巨頭症, 巨頭症ＮＯＳ, ｷｮﾄｳｼｮｳ, ｷｮﾄｳｼｮｳNOS |
| Czech | Makrocefalie NOS, Makrocefalie, makrocefalie, macrocephalus, makrocefalus |
| Korean | 대두증 |
| Russian | МАКРОЦЕФАЛИЯ, MEGATSEFALIIA, МЕГАЦЕФАЛИЯ, MAKROTSEFALIIA |
| Hungarian | Macrocephalia k.m.n., Macrocephalia |
| Polish | Makrocefalia, Nadmierny rozrost czaszki, Wielkogłowie |
| Norwegian | Makrocefali, Macrocefali |
