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29 Possible Causes for Microcephaly (2-3 SD), Postnatal Cataracts

Did you mean: Microcephaly (2-3 SD, Postnatal Cataracts

  • Dysequilibrium Syndrome

    Microcephaly (-3 to -4 SD below the mean) has been reported in a few affected individuals. Life span.[ncbi.nlm.nih.gov] Short stature (height just below the 2 nd centile) is a feature in a few affected individuals. Deep tendon reflexes in the lower extremities tend to be brisk.[ncbi.nlm.nih.gov]

  • Microcephaly

    […] progressive microcephaly, seizures, and brain atrophy AR 1 MFSD2A 614397 Microcephaly 15, primary, autosomal recessive AR 1 MSMO1 607545 Microcephaly, congenital cataract[centogene.com] […] those with milder microcephaly (-2 to -3 SD; approximately 40%).[ncbi.nlm.nih.gov] […] with or without chorioretinopathy, lymphedema, or mental retardation AD 28 KNL1 609173 primary microcephaly 4 AR 7 MCPH1 607117 primary microcephaly 1 AR 23 MED17 603810 postnatal[centogene.com]

  • Amish Lethal Microcephaly

    […] progressive microcephaly, seizures, and brain atrophy AR 1 MFSD2A 614397 Microcephaly 15, primary, autosomal recessive AR 1 MSMO1 607545 Microcephaly, congenital cataract[centogene.com] Proportional microcephaly occurs when the head circumference is 23 SD below the mean in addition to height and weight being at similar percentiles.[mdpi.com] A common finding in microcephaly is also short stature, typically between -1 SD and -2 SD and in Seckel syndrome it ranges between -4 and -12 SD 3.[centogene.com]

  • Severe Neonatal-Onset Encephalopathy with Microcephaly

    […] acquired infection) o Congenital toxoplasmosis § Acquired transplacentally § Affects eyes and CNS – necrosis/calcification of brain, hydrocephalus, cataracts, microphthalmia[emilytam.com] Discussion Microcephaly is usually defined as an occipitofrontal head circumference (OFC) more than 2 standard deviations (SD) below the mean for sex, age and ethnicity.[pediatriceducation.org] CS may present during the neonatal period (CS type II) with prenatal and postnatal growth failure, congenital cataracts, loss of adipose tissue, joint contractures, and distinctive[cerebellumandataxias.biomedcentral.com]

  • Helsmoortel-van der Aa Syndrome

    […] progressive microcephaly, seizures, and brain atrophy AR 1 MFSD2A 614397 Microcephaly 15, primary, autosomal recessive AR 1 MSMO1 607545 Microcephaly, congenital cataract[centogene.com] A common finding in microcephaly is also short stature, typically between -1 SD and -2 SD and in Seckel syndrome it ranges between -4 and -12 SD 3.[centogene.com] […] with or without chorioretinopathy, lymphedema, or mental retardation AD 28 KNL1 609173 primary microcephaly 4 AR 7 MCPH1 607117 primary microcephaly 1 AR 24 MED17 603810 postnatal[centogene.com]

  • Autosomal Dominant Mental Retardation Type 21

    3 y 3 y OCT N Alteration of the pigment epithelium ERG N Notion of night-blindness Other ocular features — Decreased visual acuity Leucorea Microcephaly 3.8 SD (postnatal[iovs.arvojournals.org] A common finding in microcephaly is also short stature, typically between -1 SD and -2 SD and in Seckel syndrome it ranges between -4 and -12 SD 3.[centogene.com] […] at referral to Genetic Department 12 y 8 y Weight (kg) 38 30 Height (cm) 149 131 Cataract Bilateral with posterior polar type Bilateral with posterior polar type Age of cataract[iovs.arvojournals.org]

  • Sclerosteosis Type 2

    […] growth retardation Absence seizures Clinodactyly Congenital cataract Deeply set eye Gait ataxia Hyperhidrosis Coarse facial features Infantile onset Respiratory distress[mendelian.co] Poor growth (1 patient), microcephaly (-2 to -3 SD) (in some patients), large fleshy earlobes, hypertelorism, upslanting palpebral fissures, broad nasal bridge and tip, tented[iofbonehealth.org] […] callosum Short neck Downslanted palpebral fissures Kyphosis Abnormality of the dentition Spasticity Microcephaly Pica Depressivity Short philtrum Broad forehead Polyphagia Postnatal[mendelian.co]

  • Autosomal Dominant Microcephaly

    […] progressive microcephaly, seizures, and brain atrophy AR 1 MFSD2A 614397 Microcephaly 15, primary, autosomal recessive AR 1 MSMO1 607545 Microcephaly, congenital cataract[centogene.com] In that regard we can distinguish borderline microcephaly at 2 SD below the mean that might be acquired and microcephaly of more than 3 or even 4 SD below the mean, which[news-medical.net] A difference of opinion exists as to whether the lower limit of a normal head circumference should be defined as 2 or 3 SD below the mean ( Avery et al., 1972 ).[mhmedical.com]

  • Premature Chromatid Separation Trait

    , Dandy-Walker anomaly, abnormal facial appearance, and bilateral cataract.[ncbi.nlm.nih.gov] , phimosis, right cryptorchidia, adducted thumbs, syndactyly 23 of toes, four limbs spasticity and increased deep tendon reflexes.[bmcmedgenet.biomedcentral.com] The infants both showed severe pre- and postnatal growth retardation, profound developmental retardation, uncontrollable seizures, severe microcephaly, hypoplasia of the brain[ncbi.nlm.nih.gov]

  • Microcephalic Osteodysplastic Primordial Dwarfism Types 1 and 3

    They both presented with prenatal and postnatal growth retardation, microcephaly, developmental delay, cataract, hearing loss and dysmorphic features.[journals.lww.com] He started walking at 3 years, speaking with single words at 2 years, and he cannot make sentences yet.[jcrpe.org] Our presented cases display some classical features of MOPD1, including prenatal and postnatal growth retardation, microcephaly, developmental delay, cataract, hearing loss[journals.lww.com]

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