Create issue ticket

210 Possible Causes for Brainstem Hypoplasia

  • Cortical Dysplasia Complex with Other Brain Malformations 5

    hypoplasia with a flat pons, mild cerebellar vermis hypoplasia, and mildly enlarged posterior fossa.[uniprot.org] […] various brain malformations such as a diffuse simplified gyral pattern with reduced volume of white matter, globular basal ganglia, thin and dysmorphic corpus callosum, mild brainstem[uniprot.org]

  • Horizontal Gaze Palsy with Progressive Scoliosis

    Rossi A, Catala M, Biancheri R et al (2004) MR imaging of brain-stem hypoplasia in horizontal gaze palsy with progressive scoliosis.[link.springer.com] Magnetic resonance imaging of the brain and orbit showed brainstem hypoplasia with absence of facial colliculi, presence of a deep midline pontine cleft (split pons sign),[otorhinolaryngologysfakianakisal.blogspot.com] MR imaging features of brain stem hypoplasia in familial horizontal gaze palsy and scoliosis. AJNR Am J Neuroradiol . 2006;27:1382–1383.[healio.com]

  • Mobius Syndrome

    MRI demonstrated brainstem hypoplasia with straightening of the fourth ventricle floor, indicating an absence of the facial colliculus.[ncbi.nlm.nih.gov] Here we present a case with unilateral 5th, 7th, 9th, 10th and 12th cranial nerve palsy along with MRI evidence of ipsilateral brainstem hypoplasia.[ncbi.nlm.nih.gov] The authors confirmed brainstem hypoplasia but did not find tegmental calcifications.[ncbi.nlm.nih.gov]

  • Hoyeraal-Hreidarsson Syndrome

    Diagnostic methods Cerebellar hypoplasia/atrophy, small brainstem, thin corpus callosum and cerebral calcifications have been reported on neuroimaging.[orpha.net] Neuroimaging is the best diagnostic measure for this rare disorder, and CT, MRI Scan of Brain usually reveal cerebellar hypoplasia or atrophy, small brainstem, thin corpus[xpertdox.com] Prenatal ultrasound reveals Intrauterine growth failure and cerebellar hypoplasia in the growing fetus.[xpertdox.com]

  • Thanatophoric Dysplasia 2

    Due to the foramen magnum being narrow, pressure on the brainstem, hypoplasia on the brainstem and hydrocephaly may possibly develop.[jcrpe.org] CNS abnormalities include mild ventriculomegaly (50%), posterior fossa (cerebellum and brainstem) hypoplasia (45%), and temporal lobe abnormalities (6).[fetalultrasound.com] stem hypoplasia Causes - Thanatophoric dysplasia- type 2 Hydrocephalus Swollen brain Elevated intracranial pressure Paget\'s disease of bone Congenital brain disorders Prevention[checkorphan.org]

  • TUBB2B-Related Polymicrogyria

    Conclusions: This report underlines that the association of polymicrogyria with thin or absent corpus callosum, dysmorphic basal ganglia, brainstem and vermis hypoplasia is[cris.vub.be] This report underlines that the association of polymicrogyria with thin or absent corpus callosum, dysmorphic basal ganglia, brainstem and vermis hypoplasia is highly likely[ingentaconnect.com]

  • Polymicrogyria with Optic Nerve Hypoplasia

    […] of the brainstem Hyporeflexia Microcephaly Optic nerve hypoplasia Polymicrogyria Seizures Abnormality of the skeletal system ... ...[familydiagnosis.com] Phenotypes Autosomal recessive inheritance ; Colpocephaly ; Congenital onset ; Global developmental delay ; Hypoplasia of the brainstem ; Hyporeflexia ; Intellectual disability[mousephenotype.org] Abnormal cerebellum morphology Hypoplasia of the brainstem Retinal dysplasia Intellectual disability, mild Neurological speech impairment Pruritus Drooling Muscle fibrillation[mendelian.co]

  • TORCH Syndrome

    […] of the corpus callosum, cerebellar and brainstem hypoplasia, and myelination abnormalities.[doi.org] […] secondary ventriculomegaly, subependymal pseudocysts, malformations of cortical development (mostly polymicrogyria and less likely lissencephaly-pachygyria spectrum), agenesis/hypoplasia[doi.org]

  • Microcephalic Primordial Dwarfism due to ZNF335 Deficiency

    Neuronal loss in central nervous system Hypoplasia of the brainstem Congenital contracture Hypoplasia of the pons Infantile encephalopathy Loss of Purkinje cells in the cerebellar[mendelian.co] […] small cerebellum and brainstem.[mendelian.co] , TYPE 4; PCH4 Pontocerebellar hypoplasia (PCH) represents a heterogeneous group of disorders characterized by an abnormally small cerebellum and brainstem.[mendelian.co]

  • Thanatophoric Dysplasia

    CNS abnormalities include mild ventriculomegaly (50%), posterior fossa (cerebellum and brainstem) hypoplasia (45%), and temporal lobe abnormalities (6).[fetalultrasound.com] hypoplasia, or neuronal migration abnormalities.[disabled-world.com] stem hypoplasia, neuronal migration abnormalities Bowed femurs (TD type I) Cloverleaf skull (always in TD type II; sometimes in TD type I) Other reported findings include[ncbi.nlm.nih.gov]

Further symptoms

Similar symptoms