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Mild microcephaly

MedGen UID:
332294
Concept ID:
C1836806
Congenital Abnormality
Synonym: Microcephaly, mild
 
HPO: HP:0040196

Definition

Decreased occipito-frontal (head) circumference (OFC). For the microcephaly OFC must be between -3 SD and -2 SD compared to appropriate, age matched, normal standards (i.e. -3 SD <= OFC < -2 SD). [from HPO]

Term Hierarchy

Conditions with this feature

Striatonigral degeneration, infantile, mitochondrial
MedGen UID:
374113
Concept ID:
C1839022
Disease or Syndrome
Arthrogryposis, distal, type 2E
MedGen UID:
343844
Concept ID:
C1852597
Disease or Syndrome
Intellectual disability, autosomal recessive 13
MedGen UID:
442564
Concept ID:
C2750791
Mental or Behavioral Dysfunction
Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the TRAPPC9 gene.
Autosomal recessive spinocerebellar ataxia 17
MedGen UID:
863738
Concept ID:
C4015301
Disease or Syndrome
Autosomal recessive spinocerebellar ataxia-17 (SCAR17) is a neurologic disorder characterized by onset of gait ataxia and cerebellar signs in early childhood. Patients also have variably impaired intellectual development (summary by Evers et al., 2016).
Developmental and epileptic encephalopathy, 27
MedGen UID:
863753
Concept ID:
C4015316
Disease or Syndrome
GRIN2B-related neurodevelopmental disorder is characterized by mild to profound developmental delay / intellectual disability (DD/ID) in all affected individuals. Muscle tone abnormalities (spasticity and/or hypotonia, occasionally associated with feeding difficulties), as well as epilepsy and autism spectrum disorder (ASD) / behavioral issues, are common. Other infantile- or childhood-onset findings include microcephaly; dystonic, dyskinetic, or choreiform movement disorder; and/or cortical visual impairment. Brain MRI reveals a malformation of cortical development in a minority of affected individuals. To date, fewer than 100 individuals with GRIN2B-related neurodevelopmental disorder have been reported.
Catifa syndrome
MedGen UID:
1684686
Concept ID:
C5231492
Disease or Syndrome
CATIFA syndrome is characterized by global developmental delay and impaired intellectual development ranging from mild to severe, with most patients exhibiting attention-deficit hyperactivity disorder (ADHD). Patients show an elongated face with long philtrum and small ears. Ocular anomalies include congenital cataracts, strabismus, and amblyopia, which may be associated with reduced vision; other anomalies include cleft lip and/or palate and misaligned teeth with extensive caries (Unlu et al., 2020).
Lissencephaly 10
MedGen UID:
1719546
Concept ID:
C5394354
Disease or Syndrome
Lissencephaly-10 (LIS10) is a neurologic disorder characterized by variably delayed development with mildly to moderately impaired intellectual development and language delay, as well as seizures, which are often intractable. There is a spectrum of severity, with some patients having normal early development and only borderline to mild cognitive impairment. Brain imaging shows features consistent with neuronal migration defects, including posterior-predominant lissencephaly, pachygyria, agyria, and subcortical band heterotopia (summary by Tsai et al., 2020). For a general description and a discussion of genetic heterogeneity of lissencephaly, see LIS1 (607432).
Silver-russell syndrome 4
MedGen UID:
1712866
Concept ID:
C5394450
Disease or Syndrome
Silver-Russell Syndrome (SRS) is typically characterized by asymmetric gestational growth restriction resulting in affected individuals being born small for gestational age, with relative macrocephaly at birth (head circumference =1.5 SD above birth weight and/or length), prominent forehead usually with frontal bossing, and frequently body asymmetry. This is followed by postnatal growth failure, and in some cases progressive limb length discrepancy and feeding difficulties. Additional clinical features include triangular facies, fifth-finger clinodactyly, and micrognathia with narrow chin. Except for the limb length asymmetry, the growth failure is proportionate and head growth normal. The average adult height in untreated individuals is ~3.1±1.4 SD below the mean. The Netchine-Harbison Clinical Scoring System (NH-CSS) is a sensitive diagnostic scoring system. Clinical diagnosis can be established in an individual who meets at least four of the NH-CSS clinical criteria – prominent forehead/frontal bossing and relative macrocephaly at birth plus two additional findings – and in whom other disorders have been ruled out.

Professional guidelines

PubMed

Mitter D, Ullmann R, Muradyan A, Klein-Hitpass L, Kanber D, Ounap K, Kaulisch M, Lohmann D
Eur J Hum Genet 2011 Sep;19(9):947-58. Epub 2011 Apr 20 doi: 10.1038/ejhg.2011.58. PMID: 21505449Free PMC Article

Recent clinical studies

Etiology

Mendes AKT, Ribeiro MRC, Lamy-Filho F, Amaral GA, Borges MCR, Costa LC, Cavalcante TB, Batista RFL, Sousa PDS, Silva AAMD
Rev Inst Med Trop Sao Paulo 2020;62:e56. Epub 2020 Aug 21 doi: 10.1590/s1678-9946202062056. PMID: 32844907Free PMC Article
Carvalho FH, Cordeiro KM, Peixoto AB, Tonni G, Moron AF, Feitosa FE, Feitosa HN, Araujo Júnior E
Prenat Diagn 2016 Sep;36(9):882-7. Epub 2016 Aug 23 doi: 10.1002/pd.4882. PMID: 27491635
Gossai N, Biegel JA, Messiaen L, Berry SA, Moertel CL
Am J Med Genet A 2015 Dec;167A(12):3186-91. Epub 2015 Sep 14 doi: 10.1002/ajmg.a.37356. PMID: 26364901
Daiminger A, Bäder U, Enders G
BJOG 2005 Feb;112(2):166-72. doi: 10.1111/j.1471-0528.2004.00328.x. PMID: 15663580
Bonham JR, Stephenson TJ, Carpenter KH, Rattenbury JM, Cromby CH, Pollitt RJ, Hull D
Pediatr Res 1990 Jul;28(1):38-41. doi: 10.1203/00006450-199007000-00009. PMID: 2165585

Diagnosis

Mendes AKT, Ribeiro MRC, Lamy-Filho F, Amaral GA, Borges MCR, Costa LC, Cavalcante TB, Batista RFL, Sousa PDS, Silva AAMD
Rev Inst Med Trop Sao Paulo 2020;62:e56. Epub 2020 Aug 21 doi: 10.1590/s1678-9946202062056. PMID: 32844907Free PMC Article
Accogli A, Scala M, Calcagno A, Castello R, Torella A, Musacchia F, Allegri AME, Mancardi MM, Maghnie M, Severino M; Telethon Undiagnosed Diseases Program, Nigro V, Capra V
Am J Med Genet A 2018 Dec;176(12):2835-2840. Epub 2018 Sep 20 doi: 10.1002/ajmg.a.40534. PMID: 30238602
Lehalle D, Mosca-Boidron AL, Begtrup A, Boute-Benejean O, Charles P, Cho MT, Clarkson A, Devinsky O, Duffourd Y, Duplomb-Jego L, Gérard B, Jacquette A, Kuentz P, Masurel-Paulet A, McDougall C, Moutton S, Olivié H, Park SM, Rauch A, Revencu N, Rivière JB, Rubin K, Simonic I, Shears DJ, Smol T, Taylor Tavares AL, Terhal P, Thevenon J, Van Gassen K, Vincent-Delorme C, Willemsen MH, Wilson GN, Zackai E, Zweier C, Callier P, Thauvin-Robinet C, Faivre L
J Med Genet 2017 Jul;54(7):479-488. Epub 2017 Jan 24 doi: 10.1136/jmedgenet-2016-104468. PMID: 28119487
Carvalho FH, Cordeiro KM, Peixoto AB, Tonni G, Moron AF, Feitosa FE, Feitosa HN, Araujo Júnior E
Prenat Diagn 2016 Sep;36(9):882-7. Epub 2016 Aug 23 doi: 10.1002/pd.4882. PMID: 27491635
Daiminger A, Bäder U, Enders G
BJOG 2005 Feb;112(2):166-72. doi: 10.1111/j.1471-0528.2004.00328.x. PMID: 15663580

Therapy

Anderka MT, Lin AE, Abuelo DN, Mitchell AA, Rasmussen SA
Am J Med Genet A 2009 Jun;149A(6):1241-8. doi: 10.1002/ajmg.a.32685. PMID: 19441125
Bonham JR, Stephenson TJ, Carpenter KH, Rattenbury JM, Cromby CH, Pollitt RJ, Hull D
Pediatr Res 1990 Jul;28(1):38-41. doi: 10.1203/00006450-199007000-00009. PMID: 2165585

Prognosis

He J, Tian X, Luo T, Zou R, Yin Z, Chen K, Zhu C, He X
Transpl Immunol 2023 Oct;80:101897. Epub 2023 Jul 10 doi: 10.1016/j.trim.2023.101897. PMID: 37437665
Gutiérrez Sánchez LA, Sandoval Martínez DK, Díaz-Martínez LA, Becerra Mojica CH
Neuropathology 2019 Dec;39(6):434-440. Epub 2019 Nov 11 doi: 10.1111/neup.12603. PMID: 31710135
El-Saafin F, Curry C, Ye T, Garnier JM, Kolb-Cheynel I, Stierle M, Downer NL, Dixon MP, Negroni L, Berger I, Thomas T, Voss AK, Dobyns W, Devys D, Tora L
Hum Mol Genet 2018 Jun 15;27(12):2171-2186. doi: 10.1093/hmg/ddy126. PMID: 29648665Free PMC Article
Anderka MT, Lin AE, Abuelo DN, Mitchell AA, Rasmussen SA
Am J Med Genet A 2009 Jun;149A(6):1241-8. doi: 10.1002/ajmg.a.32685. PMID: 19441125
Hajdú J, Marton T, Kozsurek M, Pete B, Csapó Z, Beke A, Papp Z
Fetal Diagn Ther 2008;23(2):136-9. Epub 2007 Nov 26 doi: 10.1159/000111594. PMID: 18046072

Clinical prediction guides

Mendes AKT, Ribeiro MRC, Lamy-Filho F, Amaral GA, Borges MCR, Costa LC, Cavalcante TB, Batista RFL, Sousa PDS, Silva AAMD
Rev Inst Med Trop Sao Paulo 2020;62:e56. Epub 2020 Aug 21 doi: 10.1590/s1678-9946202062056. PMID: 32844907Free PMC Article
El-Saafin F, Curry C, Ye T, Garnier JM, Kolb-Cheynel I, Stierle M, Downer NL, Dixon MP, Negroni L, Berger I, Thomas T, Voss AK, Dobyns W, Devys D, Tora L
Hum Mol Genet 2018 Jun 15;27(12):2171-2186. doi: 10.1093/hmg/ddy126. PMID: 29648665Free PMC Article
Haye D, Dridi H, Levy J, Lambert V, Lambert M, Agha M, Adjimi F, Kohlhase J, Lipsker D, Verloes A
Am J Med Genet A 2016 Oct;170(10):2750-5. Epub 2016 Jul 13 doi: 10.1002/ajmg.a.37825. PMID: 27410998
Moog U, De Die-Smulders CE, Schrander-Stumpel CT, Engelen JJ, Hamers AJ, Frints S, Fryns JP
Genet Couns 2001;12(3):287-98. PMID: 11693794
Flejter WL, Issa B, Sullivan BA, Carey JC, Brothman AR
Am J Med Genet 1998 Jan 6;75(1):45-51. PMID: 9450856

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