Hyperreflexia, and Lissencephaly

Diseases related with Hyperreflexia and Lissencephaly

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

Top matches:

Complex cortical dysplasia with other brain malformations-9 is a severe autosomal recessive disorder characterized by profoundly impaired motor and cognitive development apparent from early infancy. Affected individuals develop intractable seizures and are unable to speak or ambulate. Brain imaging shows pachygyria as well as hypogenesis of the corpus callosum and other variable brain abnormalities. The phenotype results from impaired cortical neuronal migration (summary by Schaffer et al., 2018).For a discussion of genetic heterogeneity of CDCBM, see CDCBM1 (OMIM ).

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Microcephaly
  • Ataxia
  • Hyperreflexia


SOURCES: OMIM MENDELIAN

More info about CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 9; CDCBM9

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

MMDS5 is an autosomal recessive disorder characterized mainly by progressive neurologic deterioration beginning in early infancy. Affected individuals have essentially no psychomotor development and have early-onset seizures with neurologic decline and spasticity. Brain imaging shows severe leukodystrophy with evidence of dys- or delayed myelination. Death usually occurs in early childhood (summary by Shukla et al., 2017).For a general description and a discussion of genetic heterogeneity of multiple mitochondrial dysfunctions syndrome, see MMDS1 (OMIM ).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Spasticity
  • Feeding difficulties
  • Hyperreflexia


SOURCES: OMIM MENDELIAN

More info about MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 5; MMDS5

Other less relevant matches:

Joubert syndrome-24 is an autosomal recessive ciliopathy characterized by delayed psychomotor development associated with cerebellar hypoplasia manifest as the molar tooth sign on brain imaging. Additional variable features include hypotonia, abnormal eye movements, and postaxial polydactyly (summary by Huppke et al., 2015).For a phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see {213300}.

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Nystagmus
  • Spasticity


SOURCES: OMIM MENDELIAN

More info about JOUBERT SYNDROME 24; JBTS24

Bilateral frontoparietal polymicrogyria (BFPP) is a sub-type of polymicrogyria (PMG; see this term), a cerebral cortical malformation characterized by excessive cortical folding and abnormal cortical layering, that involves the frontoparietal region of the brain and that presents with hypotonia, developmental delay, moderate to severe intellectual disability, pyramidal signs, epileptic seizures, non progressive cerebellar ataxia, dysconjugate gaze and/or strabismus.

BILATERAL FRONTOPARIETAL POLYMICROGYRIA Is also known as cerebellar ataxia with neuronal migration defect

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Ataxia


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about BILATERAL FRONTOPARIETAL POLYMICROGYRIA

Lissencephaly syndrome, Norman-Roberts type is characterised by the association of lissencephaly type I with craniofacial anomalies (severe microcephaly, a low sloping forehead, a broad and prominent nasal bridge and widely set eyes) and postnatal growth retardation.

LISSENCEPHALY SYNDROME, NORMAN-ROBERTS TYPE Is also known as norman-roberts syndrome|lissencephaly syndrome, norman-roberts type|microlissencephaly type a

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Microcephaly
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about LISSENCEPHALY SYNDROME, NORMAN-ROBERTS TYPE

Dysequilibrium syndrome (DES) is a non-progressive cerebellar disorder characterized by ataxia associated with an intellectual disability, delayed ambulation and cerebellar hypoplasia.

DYSEQUILIBRIUM SYNDROME Is also known as cerebellar ataxia-intellectual disability-dysequilibrium syndrome syndrome|cerebellar hypoplasia, vldlr-associated|non-progressive cerebellar ataxia-intellectual disability syndrome|cerebellar ataxia and mental retardation with or without quadrupedal loco

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM ORPHANET MENDELIAN

More info about DYSEQUILIBRIUM SYNDROME

Microcephaly-2 with or without cortical malformations is an autosomal recessive neurodevelopmental disorder showing phenotypic variability. Classically, primary microcephaly is a clinical diagnosis made when an individual has a head circumference more than 3 standard deviations (SD) below the age- and sex-matched population mean, and mental retardation with no other associated malformations and with no apparent etiology (Hofman, 1984). Patients with WDR62 mutations have head circumferences ranging from low-normal to severe (-9.8 SD), and most patients with brain scans have shown various types of cortical malformations. All have delayed psychomotor development; seizures are variable (summary by Yu et al., 2010).For a general phenotypic description and a discussion of genetic heterogeneity of primary microcephaly, see MCPH1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Growth delay


SOURCES: OMIM MESH MENDELIAN

More info about MICROCEPHALY 2, PRIMARY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT CORTICAL MALFORMATIONS; MCPH2

PEHO-like syndrome is a rare, genetic neurological disease characterized by progressive encephalopathy, early-onset seizures with a hypsarrhythmic pattern, facial and limb edema, severe hypotonia, early arrest of psychomotor development and craniofacial dysmorphism (evolving microcephaly, narrow forehead, short nose, prominent auricles, open mouth, micrognathia), in the absence of neuro-ophthalmic or neuroradiologic findings. Poor visual responsiveness, growth failure and tapering fingers are also associated.

PEHO-LIKE SYNDROME Is also known as progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy-like syndrome

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Spasticity


SOURCES: OMIM ORPHANET MENDELIAN

More info about PEHO-LIKE SYNDROME

NDE1-related microhydranencephaly is a rare, hereditary syndrome with a central nervous system malformation as major feature characterized by extreme microcephaly and growth restriction, severe motor delay and mental retardation, and typical radiological findings of gross dilation of the ventricles resulting from the absence (or severe delay in the development) of cerebral hemispheres, hypoplasia of the corpus callosum, cerebellum, and brainstem. Associated features are thin bones and scalp rugae.

NDE1-RELATED MICROHYDRANENCEPHALY Is also known as hydranencephaly and microcephaly|mhac

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Spasticity


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about NDE1-RELATED MICROHYDRANENCEPHALY

Top 5 symptoms//phenotypes associated to Hyperreflexia and Lissencephaly

Symptoms // Phenotype % cases
Pachygyria Very Common - Between 80% and 100% cases
Seizures Common - Between 50% and 80% cases
Cerebellar hypoplasia Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Hyperreflexia and Lissencephaly. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Spasticity

Uncommon Symptoms - Between 30% and 50% cases

Generalized hypotonia Polymicrogyria Hypoplasia of the corpus callosum Ventriculomegaly Motor delay Sloping forehead Intellectual disability Absent speech Intellectual disability, severe Hypoplasia of the brainstem Hypertonia Nystagmus Ataxia Intellectual disability, moderate Cortical gyral simplification Dysmetria Agenesis of corpus callosum Cerebellar atrophy

Rare Symptoms - Less than 30% cases

Growth delay Tetraparesis Nonprogressive cerebellar ataxia Truncal ataxia Broad-based gait Prominent nasal bridge Babinski sign Intellectual disability, profound Strabismus Short stature Neonatal hypotonia Delayed speech and language development Abnormality of the eye Skeletal muscle atrophy Talipes equinovarus Brain atrophy Gait disturbance Heterotopia Spastic tetraplegia Cognitive impairment Abnormal facial shape Intrauterine growth retardation Hemiparesis Multiple joint contractures Thick lower lip vermilion Decreased fetal movement Aggressive behavior Generalized amyotrophy Hyperactivity Self-mutilation Long philtrum Wide nasal bridge Impulsivity Micrognathia Gaze-evoked nystagmus Toe walking Dysdiadochokinesis Abnormality of vision Profound global developmental delay Cerebral palsy Intention tremor Progressive cerebellar ataxia Hydranencephaly Arachnodactyly Abnormality of movement Spastic tetraparesis Athetosis Severe muscular hypotonia Myoclonus Central hypotonia Progressive microcephaly Infantile encephalopathy Open mouth Status epilepticus Hypsarrhythmia Flexion contracture Narrow forehead Hydrocephalus Full cheeks Tapered finger Retrognathia Kyphoscoliosis Proptosis Maternal diabetes Macrotia Small for gestational age Generalized myoclonic seizures Knee flexion contracture Encephalopathy Short nose Edema Optic atrophy Intellectual disability, progressive Epicanthus Poor head control Schizencephaly Abnormal corpus callosum morphology Poor speech Postnatal growth retardation Pes planus Increased serum lactate Molar tooth sign on MRI Mutism Encephalocele Postaxial hand polydactyly Postaxial polydactyly Talipes Abnormality of eye movement Hypermetropia Polydactyly Leukodystrophy Progressive neurologic deterioration Pigmentary retinopathy Delayed myelination Agenesis of cerebellar vermis Lactic acidosis Retinopathy Developmental regression Acidosis Elevated serum creatine phosphokinase Feeding difficulties Dilation of lateral ventricles Limb hypertonia Partial agenesis of the corpus callosum Severe global developmental delay Cortical dysplasia Postnatal microcephaly Tetraplegia Abnormality of digit Abnormal pyramidal sign Gait ataxia Lymphedema Abnormality of metabolism/homeostasis Tremor Dysarthria Cataract Muscular hypotonia Bitemporal hollowing Thick cerebral cortex Type I lissencephaly Cavum septum pellucidum Colpocephaly Severe postnatal growth retardation Prominent occiput Generalized-onset seizure Muscular dystrophy Atrial septal defect Myopia Hypertelorism Polymicrogyria, anterior to posterior gradient Frontoparietal polymicrogyria Cerebral dysmyelination Perisylvian polymicrogyria Type II lissencephaly Ankle clonus Congenital muscular dystrophy Exotropia Esotropia Abnormal cerebellum morphology Severe hydrocephalus


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