Microcephaly

Basic details

Preferred term: Microcephaly
Alt. terms: Small head | Decreased size of skull | Abnormally small cranium

HPO term: Microcephaly
HPO code: HP:0000252

GenIA ID: 261
Last updated on: 2024-10-23 14:29:58

Cross ref. with other ontologies

NCIT: C85874
MESH: D008831
EFO: -
OAE: -
SNOMEDCT: -
ICD10: Q02

Description

Head circumference below 2 standard deviations below the mean for age and gender. Head circumference is measured from just above the glabella (the most prominent point on the frontal bone above the root of the nose) to the most posterior prominent point of the occipital bone using a tape measure. Some standard charts are organized by centiles Hall et al. 2007, others by standard deviations Farkas, 1981. It is important to add an indication of how far below the normal standard the head circumference is if an accurate assessment of this can be made. Microcephaly is an absolute term. The term relative microcephaly can be used when the head size centile is less than the centile for height, for example, head size at the 3rd centile with height at the 75% for age and sex. On prenatal ultrasound, microcephaly is diagnosed if the head circumference or the biparietal diameter is more than three standard deviations below the mean.

Hierarchical classification

Reported patients added to GenIA DB

SubjectID Sex Fam.ID Age* Population MatchedTerm Diagnosis Reference & Pub.codes
101504 F 211125 - Microcephaly PMID:34975878 [Fam.F169:P169]
102419 M 214948tree icon -,- Irish Traveller Decreased head circumference,Microcephaly Immunodeficiency 54 PMID:16532402 [Fam.A:IV.8(P1)]; PMID:22354167 [Fam.A:IV.8(P1.1)]
102507 F 214948tree icon - Irish Traveller Decreased head circumference Immunodeficiency 54 PMID:16532402 [Fam.A:IV.9(P2)]; PMID:22354167 [Fam.A:IV.10(P1.2)]
102509 M 214948tree icon - Irish Traveller Decreased head circumference Immunodeficiency 54 PMID:16532402 [Fam.A:IV.12(P3)]; PMID:22354167 [Fam.A:IV.12(P1.3)]
102511 M 214948tree icon -,- Irish Traveller Decreased head circumference,Microcephaly Immunodeficiency 54 PMID:16532402 [Fam.A:IV.14(P4)]; PMID:22354167 [Fam.A:IV.14(P1.4)]
102512 F 214948tree icon -,- Irish Traveller Decreased head circumference,Microcephaly Immunodeficiency 54 PMID:16532402 [Fam.A:IV.15]; PMID:22354167 [Fam.A:IV.15(P1.5)]
102716 M 214977tree icon - Irish Traveller Decreased head circumference Immunodeficiency 54 PMID:22499342 [Fam.1:IV.9(IV:9)]
102720 F 214977tree icon - Irish Traveller Decreased head circumference Immunodeficiency 54 PMID:22499342 [Fam.1:IV.12(IV:12)]
103113 M 215100tree icon - Iranian Microcephaly Seizures, cortical blindness, microcephaly syndrome PMID:36212620 [Patient(II.1)]
103116 F 215101tree icon - Saudi Microcephaly Seizures, cortical blindness, microcephaly syndrome PMID:24781755 [P1(IV.4)]
103128 F 215101tree icon - Saudi Microcephaly Seizures, cortical blindness, microcephaly syndrome PMID:24781755 [Fam.P1:IV.5]
103129 F 215101tree icon - Saudi Microcephaly Seizures, cortical blindness, microcephaly syndrome PMID:24781755 [Fam.P1:IV.6]
103130 M 215101tree icon - Saudi Microcephaly Seizures, cortical blindness, microcephaly syndrome PMID:24781755 [Fam.P1:IV.7]
103131 M 215101tree icon - Saudi Microcephaly Seizures, cortical blindness, microcephaly syndrome PMID:24781755 [Fam.P1:IV.8]
103152 F 215104tree icon 0 Omani Microcephaly Seizures, cortical blindness, microcephaly syndrome PMID:26463574 [Fam.MC2500:IV.9(MC2501)]
103170 F 215104tree icon 0 Omani Microcephaly PMID:26463574 [Fam.MC2500:IV.10]
103171 M 215104tree icon - Omani Microcephaly Seizures, cortical blindness, microcephaly syndrome PMID:26463574 [Fam.MC2500:IV.11]
103466 M 215133tree icon 0 Irish Traveller Decreased head circumference Immunodeficiency 54 PMID:22499342 [Fam.3:II.1(II:1)]
107212 F 216374 4 Arab Microcephaly Combined immunodeficiency 37 PMID:31775018 [Patient]

*Age: age reported at the first known time of manifestation; PMID: PubMed ID; GRID: GenIA reference ID (ref. not in PubMed).