Cognitive impairment, and Polymicrogyria

Diseases related with Cognitive impairment and Polymicrogyria

In the following list you will find some of the most common rare diseases related to Cognitive impairment and Polymicrogyria that can help you solving undiagnosed cases.


Top matches:

Low match BILATERAL PERISYLVIAN POLYMICROGYRIA


Polymicrogyria (PMG) is a malformation of cortical development in which the brain surface is irregular and the normal gyral pattern replaced by multiple small, partly fused gyri separated by shallow sulci. Microscopic examination shows a simplified 4-layered or unlayered cortex. Several patterns of PMG, including bilateral frontal, bilateral perisylvian, and bilateral mesial occipital PMG, have been described on the basis of their topographic distribution. All but the perisylvian form appear to be rare. Bilateral perisylvian PMG (BPP) often results in a typical clinical syndrome that is manifested by mild mental retardation, epilepsy, and pseudobulbar palsy, which causes difficulties with expressive speech and feeding (Kuzniecky et al., 1993).PMG may be a feature of other conditions as well (see, e.g., {300643}).

BILATERAL PERISYLVIAN POLYMICROGYRIA Is also known as perisylvian syndrome, congenital bilateral|bpp|cbps|pmgx

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Cognitive impairment
  • Delayed speech and language development


SOURCES: OMIM ORPHANET MENDELIAN

More info about BILATERAL PERISYLVIAN POLYMICROGYRIA

Low match LISSENCEPHALY 6 WITH MICROCEPHALY; LIS6


Lissencephaly-6 is an autosomal recessive neurodevelopmental disorder characterized by severe microcephaly and developmental delay. Brain imaging shows variable malformations of cortical development, including lissencephaly, pachygyria, and hypoplasia of the corpus callosum (summary by Mishra-Gorur et al., 2014).For a general description and a discussion of genetic heterogeneity of lissencephaly, see LIS1 (OMIM ).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Microcephaly
  • Abnormal facial shape
  • Spasticity


SOURCES: OMIM MENDELIAN

More info about LISSENCEPHALY 6 WITH MICROCEPHALY; LIS6

Low match EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION; FESD


Focal epilepsy with speech disorder is a childhood-onset seizure disorder with a highly variable phenotype. Seizures typically occur in the temporal lobe, or rolandic brain region, which affects speech and language, and electroencephalogram (EEG) characteristically shows centrotemporal spike-wave discharges. EEG abnormalities often occur during sleep and may manifest as continuous spike-wave discharges during slow-wave sleep (CSWS or CSWSS). FESD represents an electroclinical spectrum that ranges from severe early-onset seizures associated with delayed psychomotor development, persistent speech difficulties, and mental retardation to a more benign entity characterized by childhood onset of mild or asymptomatic seizures associated with transient speech difficulties followed by remission of seizures in adolescence and normal psychomotor development. There is incomplete penetrance and intrafamilial variability, even among family members who carry the same GRIN2A mutation (summary by Lesca et al., 2013; Lemke et al., 2013; Carvill et al., 2013).The disorder represented here encompasses several clinical entities, including Landau-Kleffner syndrome (LKS), epileptic encephalopathy with continuous spike and wave during slow-wave sleep (ECSWS; CSWSS), autosomal dominant rolandic epilepsy, mental retardation, and speech dyspraxia (ADRESD; RESDAD), and benign epilepsy with centrotemporal spikes (BECTS; see {117100}). LKS is classically described as a childhood-onset variant of epileptic aphasia. It is associated with EEG abnormalities occurring in the temporal lobe of the language-dominant hemisphere, even in the absence of overt clinical seizures. LKS is sometimes referred to as an 'acquired aphasia' because most affected children show normal psychomotor development until the onset of seizures, usually between 3 and 7 years, although some may have prior delayed development. A hallmark of the disorder is severe impairment in auditory language comprehension and speech. Some patients may also have persistent intellectual disability or behavioral abnormalities reminiscent of autism or attention deficit-hyperactivity disorder. EEG abnormalities typically include centrotemporal spikes suggestive of rolandic epilepsy or continuous spike and waves during slow-wave sleep. The presence of CSWS is associated with more widespread behavioral and cognitive regression than LKS, although the 2 disorders may be considered part of a spectrum. There is controversy about the precise definition of LKS and its relationship to CSWS that stems mainly from the phenotypic heterogeneity of the disorder (summary by Stefanatos, 2011).

EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION; FESD Is also known as aphasia, acquired, with epilepsy

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION; FESD

Mendelian

Too many results?
We can help you with your rare disease diagnosis.

Learn more

Other less relevant matches:

Low match POLYMICROGYRIA DUE TO TUBB2B MUTATION


Complex cortical dysplasia with other brain malformations-7 is an autosomal dominant, clinically heterogeneous disorder showing a wide spectrum of abnormalities of cortical brain development. The most severely affected patients are fetuses with microlissencephaly, absence of the cortical plate, agenesis of the corpus callosum, and severely hypoplastic brainstem and cerebellum. Other patients have lissencephaly, polymicrogyria, cortical dysplasia, or neuronal heterotopia. Those with less severe malformations can survive, but usually have some degree of neurologic impairment, such as mental retardation, seizures, and movement abnormalities (summary by Chang et al., 2006; Fallet-Bianco et al., 2014).For a discussion of genetic heterogeneity of CDCBM, see CDCBM1 (OMIM ).

POLYMICROGYRIA DUE TO TUBB2B MUTATION Is also known as polymicrogyria, symmetric or asymmetric|pmgysa

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about POLYMICROGYRIA DUE TO TUBB2B MUTATION

Low match MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 11; MDDGA11


Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A) is an autosomal recessive disorder with congenital muscular dystrophy resulting in muscle weakness early in life and brain and eye anomalies. It is usually associated with delayed psychomotor development and shortened life expectancy. The phenotype includes the alternative clinical designations Walker-Warburg syndrome (WWS) and muscle-eye-brain disease (MEB). The disorder represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1 ), collectively known as 'dystroglycanopathies' (summary by Stevens et al., 2013).For a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 (OMIM ).

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 11; MDDGA11 Is also known as walker-warburg syndrome or muscle-eye-brain disease, b3galnt2-related

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Muscle weakness
  • Cataract
  • Spasticity


SOURCES: OMIM MENDELIAN

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 11; MDDGA11

Low match HYDROCEPHALUS, CONGENITAL, 1; HYC1


Congenital hydrocephalus-1 is characterized by onset in utero of enlarged ventricles due to a disturbance of cerebrospinal fluid accumulation. Affected individuals may have neurologic impairment (summary by Drielsma et al., 2012).Hydrocephalus can also be caused by Arnold-Chiari malformation, atresia of foramen of Magendie, stenosis of aqueduct of Sylvius (OMIM ), toxoplasmosis, hydranencephaly, etc. Furthermore, it develops in infancy or childhood in achondroplasia (OMIM ) and in Hurler disease (OMIM ). Genetic Heterogeneity of Congenital HydrocephalusSee also HYC2 (OMIM ), caused by mutation in the MPDZ gene (OMIM ) on chromosome 9p23, and HYC3 (OMIM ), caused by mutation in the WDR81 gene (OMIM ) on chromosome 17p13.An X-linked form of congenital hydrocephalus (HSAS, HYCX; {307000}) is caused by mutation in the L1CAM gene on (OMIM ) on chromosome Xq28.

HYDROCEPHALUS, CONGENITAL, 1; HYC1 Is also known as hydrocephaly|hydrocephalus, nonsyndromic, autosomal recessive 1, formerly|ventriculomegaly

Related symptoms:

  • Intellectual disability
  • Seizures
  • Neoplasm
  • Macrocephaly
  • Ventriculomegaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about HYDROCEPHALUS, CONGENITAL, 1; HYC1

Low match COBBLESTONE LISSENCEPHALY WITHOUT MUSCULAR OR OCULAR INVOLVEMENT


Cobblestone lissencephaly without muscular or ocular involvement is a form of cobblestone lissencephaly characterized by a constellation of brain malformations which can either exist alone or in conjunction with minimal muscular and ocular abnormalities. The clinical features of the disease include severe developmental delay, increased head circumference, hydrocephalus and seizures.

COBBLESTONE LISSENCEPHALY WITHOUT MUSCULAR OR OCULAR INVOLVEMENT Is also known as lissencephaly type 2 without muscular or ocular involvement|lissencephaly type 2 without muscular or eye involvement|cobblestone lissencephaly without muscular or eye involvement

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about COBBLESTONE LISSENCEPHALY WITHOUT MUSCULAR OR OCULAR INVOLVEMENT

Low match STURGE-WEBER SYNDROME; SWS


Sturge-Weber syndrome is characterized by an intracranial vascular anomaly, leptomeningeal angiomatosis, most often involving the occipital and posterior parietal lobes. The most common symptoms and signs are facial cutaneous vascular malformations (port-wine stains), seizures, and glaucoma. Stasis results in ischemia underlying the leptomeningeal angiomatosis, leading to calcification and laminar cortical necrosis. The clinical course is highly variable and some children experience intractable seizures, mental retardation, and recurrent stroke-like episodes (review by Thomas-Sohl et al., 2004).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Cognitive impairment


SOURCES: OMIM MENDELIAN

More info about STURGE-WEBER SYNDROME; SWS

Low match PELIZAEUS-MERZBACHER-LIKE DISEASE DUE TO AIMP1 MUTATION


Autosomal recessive hypomyelinating leukodystrophy-3 (HLD3) is a severe neurologic disorder characterized by early infantile onset of global developmental delay, lack of development, lack of speech acquisition, and peripheral spasticity associated with decreased myelination in the central nervous system (summary by Feinstein et al., 2010).The disorder is phenotypically similar to X-linked Pelizaeus-Merzbacher disease (PMD ), which is caused by mutation in the PLP1 gene (OMIM ). For a general phenotypic description and a discussion of genetic heterogeneity of HLD, see {312080}.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about PELIZAEUS-MERZBACHER-LIKE DISEASE DUE TO AIMP1 MUTATION

Low match CK SYNDROME


CK syndrome is a rare, genetic, X-linked syndromic intellectual disability disorder characterized by mild to severe intellectual disability, infancy-onset seizures, post-natal microcephaly, cerebral cortical malformations, dysmorphic facial features (including long, narrow face, almond-shaped palpebral fissures, epicanthic folds, high nasal bridge, malar flattening, posteriorly rotated ears, high arched palate, crowded teeth, micrognathia) and thin body habitus. Long and slim fingers/toes, strabismus, hypotonia, spasticity, optic disc atrophy, and behavioral problems (aggression, attention deficit hyperactivity disorder and irritability) are additional features.

CK SYNDROME Is also known as x-linked intellectual disability-microcephaly-cortical malformation-thin habitus syndrome|mental retardation, x-linked, with thin body habitus and cortical malformation

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about CK SYNDROME

Top 5 symptoms//phenotypes associated to Cognitive impairment and Polymicrogyria

Symptoms // Phenotype % cases
Global developmental delay Very Common - Between 80% and 100% cases
Seizures Very Common - Between 80% and 100% cases
Intellectual disability Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

Patients with Cognitive impairment and Polymicrogyria. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Lissencephaly Hydrocephalus Heterotopia Pachygyria Severe global developmental delay Mental deterioration EEG abnormality Spasticity Abnormal facial shape Macrocephaly Focal-onset seizure Hemiparesis Cerebellar hypoplasia Delayed speech and language development

Rare Symptoms - Less than 30% cases


Type II lissencephaly Leukoencephalopathy Vomiting Muscular dystrophy Muscular hypotonia of the trunk Hyperactivity Irritability Blindness Behavioral abnormality Cataract Hypoplasia of the pons Stroke Intellectual disability, severe Hypoplasia of the brainstem Perisylvian polymicrogyria Arnold-Chiari malformation Agenesis of corpus callosum Dysarthria Hypoplasia of the corpus callosum Ventriculomegaly Abnormality of the cerebral white matter Motor delay Progressive neurologic deterioration Encephalocele Absence seizures Failure to thrive Flexion contracture Dystonia Visual impairment Nystagmus Cerebral atrophy Absent speech Myoclonus Kyphoscoliosis Coarse facial features Hemiplegia Hemangioma Infantile spasms Nevus flammeus Cafe-au-lait spot Nevus Glaucoma Cerebral cortical atrophy Right hemiplegia Congenital glaucoma Gray matter heterotopias Arachnoid hemangiomatosis Abnormality of the vasculature Buphthalmos Porencephalic cyst Occipital encephalocele Stroke-like episode Facial hemangioma Choroidal hemangioma Paraparesis Rigidity Retrognathia Scoliosis Micrognathia Strabismus High palate Epicanthus Kyphosis Malar flattening Posteriorly rotated ears Upslanted palpebral fissure Aggressive behavior Sudanophilic leukodystrophy Hyperlordosis Prominent nasal bridge Long face Joint hypermobility Sleep disturbance Dental crowding Narrow face Abnormality of digit Abnormal cortical bone morphology Slender build Diffuse cerebral sclerosis Projectile vomiting Abnormal pyramidal sign Tetraplegia Arthrogryposis multiplex congenita Gliosis Brain atrophy Premature birth Neuronal loss in central nervous system Hypsarrhythmia Tetraparesis Leukodystrophy Clonus Spastic paraparesis Rapid neurologic deterioration Spastic tetraparesis CNS hypomyelination Global brain atrophy Decreased muscle mass Ankle clonus Severe failure to thrive Corpus callosum atrophy Rotary nystagmus Progressive spastic paraparesis Progressive flexion contractures Spastic tetraplegia Prominent forehead Abnormal cerebellum morphology Epileptic encephalopathy Autistic behavior Attention deficit hyperactivity disorder Neurological speech impairment Generalized myoclonic seizures Progressive cerebellar ataxia Urinary incontinence Febrile seizures Generalized-onset seizure Intellectual disability, moderate Apraxia Status epilepticus Dysdiadochokinesis Language impairment Dysphasia Aphasia Epileptic spasms Speech apraxia Developmental regression Autism Oromotor apraxia Pseudobulbar signs Dysphagia Intellectual disability, mild Paralysis Generalized tonic-clonic seizures Dyslexia Pseudobulbar paralysis Atypical absence seizures Facial tics Encephalopathy Hyperreflexia Hypertonia Sloping forehead Cortical gyral simplification Partial agenesis of the corpus callosum Limb hypertonia Dilation of lateral ventricles Ataxia Agnosia EEG with centrotemporal focal spike waves Coma Hydranencephaly Neoplasm Headache Dilatation Spontaneous abortion Communicating hydrocephalus Aqueductal stenosis Dilated fourth ventricle Intraventricular hemorrhage Cerebellar dysplasia Normal pressure hydrocephalus Hearing impairment Muscular hypotonia Optic atrophy Gait disturbance Spastic paraplegia Paraplegia Neurodegeneration Cerebellar cyst Congenital muscular dystrophy Continuous spike and waves during slow sleep Congenital fibrosis of extraocular muscles Ptosis Cerebellar atrophy Abnormality of the eye Specific learning disability Drooling Cortical dysplasia Hemianopia Limited extraocular movements Optic nerve hypoplasia Unilateral polymicrogyria Frontoparietal cortical dysplasia Muscle weakness Myopia Microphthalmia Elevated serum creatine phosphokinase Retinal detachment Severe muscular hypotonia Almond-shaped palpebral fissure



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Ventricular septal defect and Myalgia, related diseases and genetic alterations Hepatomegaly and Aggressive behavior, related diseases and genetic alterations Pain and Syndactyly, related diseases and genetic alterations Cardiomyopathy and Lactic acidosis, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more