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31 Possible Causes for Hyperreflexia, Microcephaly (2-3 SD)

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  • Severe Neonatal-Onset Encephalopathy with Microcephaly

    Hyperreflexia MedGen UID: 57738 • Concept ID: C0151889 • Finding Autonomic nervous system overreaction to stimuli, most commonly after spinal cord injury at a T-5 level and[ncbi.nlm.nih.gov] 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] Spasticity and hyperreflexia are often present but some newborn infants are hypotonic.[disorders.eyes.arizona.edu]

  • 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]

  • Autosomal Recessive Mental Retardation Type 27

    […] polyneuropathy; genetic testing available SCA11 (autosomal dominant type 11) 15q14-q21.3 by linkage Slowly progressive gait and extremity ataxia, dysarthria, vertical nystagmus, hyperreflexia[accessmedicine.mhmedical.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] Hair]; Central balding; Sparse hair MUSCLE, SOFT TISSUE: Muscle atrophy affecting the upper back and neck muscles NEUROLOGIC: [Central nervous system]; Mental retardation ; Hyperreflexia[findzebra.com]

  • Pseudo-Zellweger Syndrome

    As the condition gets worse, affected children develop exaggerated reflexes (hyperreflexia), increased muscle tone (hypertonia), more severe and recurrent seizures (epilepsy[ghr.nlm.nih.gov] 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] Acquired (secondary) microcephaly is caused by prenatal or perinatal brain injury due to hypoxic/ischemic insults, congenital infections, and other causes.[neuropathology-web.org]

  • Helsmoortel-van der Aa Syndrome

    SPINOCEREBELLAR ATAXIA TYPE 40 Is also known as sca40 Related symptoms: Ataxia Hyperreflexia Dysarthria Tremor Gait ataxia SOURCES: ORPHANET OMIM MENDELIAN More info about[mendelian.co] 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] […] polyneuropathy; genetic testing available SCA11 (autosomal dominant type 11) 15q14-q21.3 by linkage Slowly progressive gait and extremity ataxia, dysarthria, vertical nystagmus, hyperreflexia[accessmedicine.mhmedical.com]

  • Microcephaly

    […] malformations and calcifications, ventriculomegaly, optic nerve hypoplasia, macular atrophy, cataracts, impaired visual and hearing function, arthrogryposis, spasticity, hyperreflexia[ncbi.nlm.nih.gov] […] those with milder microcephaly (-2 to -3 SD; approximately 40%).[ncbi.nlm.nih.gov] […] contractures) 4 (11) Other defects (microphthalmia) 1 (3) Abnormal funduscopic examination (11) 2 (18) Neurologic examination Any abnormality 17 (49) Hypertonia/Spasticity 13 (37) Hyperreflexia[cdc.gov]

  • Autosomal Dominant Mental Retardation Type 21

    […] polyneuropathy; genetic testing available SCA11 (autosomal dominant type 11) 15q14-q21.3 by linkage Slowly progressive gait and extremity ataxia, dysarthria, vertical nystagmus, hyperreflexia[accesspharmacy.mhmedical.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] 100% cases Intellectual disability Common - Between 50% and 80% cases Dysarthria Common - Between 50% and 80% cases Cerebellar atrophy Common - Between 50% and 80% cases Hyperreflexia[mendelian.co]

  • Amish Lethal Microcephaly

    Flexion contracture Encephalopathy Feeding difficulties Intellectual disability Micrognathia Lactic acidosis Acidosis Muscular hypotonia Respiratory distress Dysphagia Ranula Hyperreflexia[mendelian.co] 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] 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]

  • Polymicrogyria

    The patients with extensive regions of polymicrogyria in each hemisphere all had significant neurologic and developmental problems, including hypotonia, hyperreflexia, contractures[ajnr.org] 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] ., head circumference 3 SD and MIC severe microcephaly (i.e., birth head circumference MAC macrocephaly (i.e., head circumference 97%) 3.[ncbi.nlm.nih.gov]

  • Sclerosteosis Type 2

    The sclerosis of the foramen magnum may cause hyperreflexia, weakness, paraparesis and even death. 13 The increase in bone mineral density in the diaphyses may increase the[elsevier.es] 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]

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