Create issue ticket

51 Possible Causes for Microcephaly (2-3 SD), Nystagmus

Did you mean: Microcephaly (2-3 SD, Nystagmus

  • Dysequilibrium Syndrome

    Microcephaly (-3 to -4 SD below the mean) has been reported in a few affected individuals. Life span.[ncbi.nlm.nih.gov] […] extensor plantar reflexes, distal muscle wasting, a distal sensorimotor neuropathy, a distal sensorimotor neuropathy predominant in the legs, and horizontal gaze-evoked nystagmus[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]

  • Vertical Heterotropia

    PATHOLOGY AND GENETICS OF MCDs Microcephaly Microcephaly, defined as a head circumference 2-3 SD below the mean, is a condition most frequently associated with subnormal intelligence[neuropathology-web.org] This cycloversion/vertical vergence helps damp the cyclovertical nystagmus (a cyclovertical “nystagmus blockage” phenomenon), aiding vision in the fixing eye.[jebmh.com] NYSTAGMUS Nystagmus is defined as involuntary, rhythmically repeated oscillations of one or both eyes in any or all fields of gaze.[books.google.de]

  • Kaufman Oculocerebrofacial Syndrome

    Microcephaly is often moderate with OFC -2 to -3 SD; it is not currently known to worsen with age.[ncbi.nlm.nih.gov] . * long thin hands & feet * eye abnormalities including shaky or wiggly eye movement (nystagmus) * unusually looking long narrow face * small head; those some persons have[signssymptoms.org] . * Long thin hands & feet * Eye abnormalities including shaky or wiggly eye movement (nystagmus) * Unusually looking long narrow face * Small head; those some persons have[signssymptoms.org]

  • Oculo-Palato-Cerebral Syndrome

    3) Short Stature (SD) Upperllower segment ratio (SD) Small Hands (SD) Small Feet (SD) Midline Cleft Palate Large pointed ears Undescended testes Microphthalmos Secondary[myslide.es] Infant with visual inattention and nystagmus.[ojoonline.org] The use of botulinum toxin for treatment of acquired nystagmus and oscillopsia . Ophthalmology 1994; 101 :783–87. 37. Lee JP . Surgical management of nystagmus .[nature.com]

  • Autosomal Dominant Mental Retardation 21

    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] […] genetic testing available SCA8 (autosomal dominant type 8) 13q21 with CTG repeats; noncoding; 3‘ untranslated region of transcribed RNA; KLHL1AS Gait ataxia, dysarthria, nystagmus[accesspharmacy.mhmedical.com] Congenital cataracts Infantile glaucoma Nystagmus Marchesani's Syndrome This is an autosomal recessive syndrome that results in multiple skeletal abnormalities.[tsbvi.edu]

  • Severe Neonatal-Onset Encephalopathy with Microcephaly

    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] Subsequently a severe psychomotor deficit becomes apparent, if patients survive past infancy oculomotor manifestations become apparent such strabismus, nystagmus, occulomotor[orpha.net] Truncal ataxia Apraxia Oral-pharyngeal dysphagia Sleep disturbance Rotary nystagmus Abnormality of eye movement Aggressive behavior Hyperhidrosis Talipes equinovarus Muscular[mendelian.co]

  • Autosomal Dominant Mental Retardation 28

    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] SPINOCEREBELLAR ATAXIA TYPE 28 Is also known as sca28 Related symptoms: Ataxia Nystagmus Spasticity Ptosis Cognitive impairment SOURCES: MESH ORPHANET OMIM MENDELIAN More[mendelian.co] […] genetic testing available SCA8 (autosomal dominant type 8) 13q21 with CTG repeats; noncoding; 3‘ untranslated region of transcribed RNA; KLHL1AS Gait ataxia, dysarthria, nystagmus[accessmedicine.mhmedical.com]

  • Autosomal Dominant Congenital Nystagmus 3

    Sheriff and Hegab (1988) described a Kuwaiti family in which 3 sibs, 2 boys and a girl, had true microcepha...[findzebra.com] The nystagmus may rarely be vertical.[malacards.org] For a discussion of genetic heterogeneity of congenital nystagmus, see NYS1 (310700).[ncbi.nlm.nih.gov]

  • Microcephaly

    […] those with milder microcephaly (-2 to -3 SD; approximately 40%).[ncbi.nlm.nih.gov] Macular circumscribed chorioretinal atrophy, focal mottled retinal pigment epithelium, optic nerve pallor, early-onset strabismus, nystagmus and low visual acuity were common[ncbi.nlm.nih.gov] 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]

  • Pseudo-Zellweger Syndrome

    PATHOLOGY AND GENETICS OF MCDs Microcephaly Microcephaly, defined as a head circumference 2-3 SD below the mean, is a condition most frequently associated with subnormal intelligence[neuropathology-web.org] Eye findings include cataracts, glaucoma, pigmentary retinopathy, nystagmus, corneal clouding and optic nerve atrophy. Visual changes and loss are progressive.[orpha.net] Most children present between 3 and 9 months of age with hypotonia, ataxia, delayed motor milestones, and transient nystagmus.[msunites.com]

Further symptoms

Similar symptoms