Microcephaly, Amish type [DS:H00990] Microcephaly-capillary malformation syndrome [DS:H01872] Microcephaly with chorioretinopathy, lymphedema, or mental retardation [DS:H01876] Autosomal recessive microcephaly and chorioretinopathy [DS:H01880] Microcephaly, short stature, and impaired glucose metabolism [DS:H01923] Microcephaly postnatal progressive with seizures and brain atrophy (MCPHSBA) Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy (MSCCA) Microcephaly, congenital cataract, and psoriasiform dermatitis (MCCPD) Microcephaly, epilepsy, and diabetes syndrome (MEDS) Microcephaly micromelia syndrome (MIMIS) Microcephaly, short stature, and polymicrogyria (MSSP) Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia (MFRG) Microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum (MCIDDS) Microcephaly, growth deficiency, seizures, and brain malformations (MIGSB) Microcephaly, developmental delay, and brittle hair syndrome (MDBH)
Description
Microcephaly is defined as an occipitofrontal circumference (OFC) 2 or more standard deviations below the mean for age and sex. Microcephaly may be associated with other anomalies, which is termed microcephaly syndrome. To date, a large number of microcephaly syndromes have been reported.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
Multiple developmental anomalies or syndromes
LD20 Syndromes with central nervous system anomalies as a major feature
H02132 Microcephaly syndrome
Pathway-based classification of diseases [BR:br08402]
Lipid/glycolipid metabolism
nt06034 Cholesterol biosynthesis
H02132 Microcephaly syndrome
Kaufmann R, Straussberg R, Mandel H, Fattal-Valevski A, Ben-Zeev B, Naamati A, Shaag A, Zenvirt S, Konen O, Mimouni-Bloch A, Dobyns WB, Edvardson S, Pines O, Elpeleg O
Title
Infantile cerebral and cerebellar atrophy is associated with a mutation in the MED17 subunit of the transcription preinitiation mediator complex.
Zhang X, Ling J, Barcia G, Jing L, Wu J, Barry BJ, Mochida GH, Hill RS, Weimer JM, Stein Q, Poduri A, Partlow JN, Ville D, Dulac O, Yu TW, Lam AT, Servattalab S, Rodriguez J, Boddaert N, Munnich A, Colleaux L, Zon LI, Soll D, Walsh CA, Nabbout R
Title
Mutations in QARS, encoding glutaminyl-tRNA synthetase, cause progressive microcephaly, cerebral-cerebellar atrophy, and intractable seizures.
De Franco E, Lytrivi M, Ibrahim H, Montaser H, Wakeling MN, Fantuzzi F, Patel K, Demarez C, Cai Y, Igoillo-Esteve M, Cosentino C, Lithovius V, Vihinen H, Jokitalo E, Laver TW, Johnson MB, Sawatani T, Shakeri H, Pachera N, Haliloglu B, Ozbek MN, Unal E, Yildirim R, Godbole T, Yildiz M, Aydin B, Bilheu A, Suzuki I, Flanagan SE, Vanderhaeghen P, Senee V, Julier C, Marchetti P, Eizirik DL, Ellard S, Saarimaki-Vire J, Otonkoski T, Cnop M, Hattersley AT
Title
YIPF5 mutations cause neonatal diabetes and microcephaly through endoplasmic reticulum stress.
Evrony GD, Cordero DR, Shen J, Partlow JN, Yu TW, Rodin RE, Hill RS, Coulter ME, Lam AN, Jayaraman D, Gerrelli D, Diaz DG, Santos C, Morrison V, Galli A, Tschulena U, Wiemann S, Martel MJ, Spooner B, Ryu SC, Elhosary PC, Richardson JM, Tierney D, Robinson CA, Chibbar R, Diudea D, Folkerth R, Wiebe S, Barkovich AJ, Mochida GH, Irvine J, Lemire EG, Blakley P, Walsh CA
Title
Integrated genome and transcriptome sequencing identifies a noncoding mutation in the genome replication factor DONSON as the cause of microcephaly-micromelia syndrome.
Shaheen R, Patel N, Shamseldin H, Alzahrani F, Al-Yamany R, ALMoisheer A, Ewida N, Anazi S, Alnemer M, Elsheikh M, Alfaleh K, Alshammari M, Alhashem A, Alangari AA, Salih MA, Kircher M, Daza RM, Ibrahim N, Wakil SM, Alaqeel A, Altowaijri I, Shendure J, Al-Habib A, Faqieh E, Alkuraya FS
Title
Accelerating matchmaking of novel dysmorphology syndromes through clinical and genomic characterization of a large cohort.
Kuo ME, Theil AF, Kievit A, Malicdan MC, Introne WJ, Christian T, Verheijen FW, Smith DEC, Mendes MI, Hussaarts-Odijk L, van der Meijden E, van Slegtenhorst M, Wilke M, Vermeulen W, Raams A, Groden C, Shimada S, Meyer-Schuman R, Hou YM, Gahl WA, Antonellis A, Salomons GS, Mancini GMS
Title
Cysteinyl-tRNA Synthetase Mutations Cause a Multi-System, Recessive Disease That Includes Microcephaly, Developmental Delay, and Brittle Hair and Nails.
