Hydrocephalus, and Febrile seizures

Diseases related with Hydrocephalus and Febrile seizures

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

Top matches:

Spastic quadriplegia-52 is an autosomal recessive neurodevelopmental disorder characterized by neonatal hypotonia that progresses to hypertonia and spasticity and severe mental retardation with poor or absent speech development (summary by Abou Jamra et al., 2011). Some patients may have seizures (Hardies et al., 2015).

SPASTIC PARAPLEGIA 52, AUTOSOMAL RECESSIVE; SPG52 Is also known as cerebral palsy, spastic quadriplegic, 6, formerly|cpsq6, formerly

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about SPASTIC PARAPLEGIA 52, AUTOSOMAL RECESSIVE; SPG52

Medium match MUENKE SYNDROME

Muenke syndrome is a syndromic craniosynostosis with significant phenotypic variability, usually characterized by coronal synostosis, midfacial retrusion, strabismus, hearing loss and developmental delay.

MUENKE SYNDROME Is also known as muenke nonsyndromic coronal craniosynostosis

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Hypertelorism


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MUENKE SYNDROME

Early infantile epileptic encephalopathy-54 is a severe neurodevelopmental disorder characterized by delayed psychomotor development, early-onset refractory seizures that are often initially febrile but later afebrile, and severe intellectual disability (summary by de Kovel et al., 2016).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 54; EIEE54

Other less relevant matches:

Lissencephaly (LIS), literally meaning smooth brain, is characterized by smooth or nearly smooth cerebral surface and a paucity of gyral and sulcal development, encompassing a spectrum of brain surface malformations ranging from complete agyria to subcortical band heterotopia (SBH). Classic lissencephaly is associated with an abnormally thick cortex, reduced or abnormal lamination, and diffuse neuronal heterotopia. SBH consists of circumferential bands of heterotopic neurons located just beneath the cortex and separated from it by a thin band of white matter. SBH represents the less severe end of the lissencephaly spectrum of malformations (Pilz et al., 1999, summary by Kato and Dobyns, 2003). Agyria, i.e., brain without convolutions or gyri, was considered a rare malformation until recent progress in neuroradiology (Bordarier et al., 1986). With this technical advantage, a number of lissencephaly syndromes have been distinguished.Classic lissencephaly (formerly type I) is a brain malformation caused by abnormal neuronal migration at 9 to 13 weeks' gestation, resulting in a spectrum of agyria, mixed agyria/pachygyria, and pachygyria. It is characterized by an abnormally thick and poorly organized cortex with 4 primitive layers, diffuse neuronal heterotopia, enlarged and dysmorphic ventricles, and often hypoplasia of the corpus callosum. (Lo Nigro et al., 1997).Kato and Dobyns (2003) presented a classification system for neuronal migration disorders based on brain imaging findings and molecular analysis. The authors also reviewed the contributions and interactions of the 5 genes then known to cause human lissencephaly: LIS1 or PAFAH1B1, 14-3-3-epsilon (YWHAE), DCX, RELN, and ARX. Genetic Heterogeneity of LissencephalyLissencephaly is a genetically heterogeneous disorder. See also LIS2 (OMIM ), caused by mutation in the RELN gene (OMIM ) on chromosome 7q22; LIS3 (OMIM ), caused by mutation in the TUBA1A gene (OMIM ) on chromosome 12q13; LIS4 (OMIM ), caused by mutation in the NDE1 gene (OMIM ) on chromosome 16p13; LIS5 (OMIM ), caused by mutation in the LAMB1 gene (OMIM ) on chromosome 7q; LIS6 (OMIM ), caused by mutation in the KATNB1 gene (OMIM ) on chromosome 16q21; LIS7 (OMIM ), caused by mutation in the CDK5 gene (OMIM ) on chromosome 7q36; and LIS8 (OMIM ), caused by mutation in the TMTC3 gene (OMIM ) on chromosome 12q21.X-linked forms include LISX1 (OMIM ), caused by mutation in the DCX gene (OMIM ) on chromosome Xq22.3-q23, and LISX2 (OMIM ), caused by mutation in the ARX gene (OMIM ) on chromosome Xp22.3-p21.1.See also Miller-Dieker lissencephaly syndrome (MDLS ), a contiguous gene microdeletion syndrome involving chromosome 17p13 and including the PAFAH1B1 and YWHAE (OMIM ) genes. Lissencephaly caused by mutations in the PAFAH1B1 gene is also called 'isolated' lissencephaly to distinguish it from the accompanying features of MDLS.

LISSENCEPHALY 1; LIS1 Is also known as lissencephaly, classic|ils|lissencephaly sequence, isolated

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about LISSENCEPHALY 1; LIS1

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 51; MRD51

Microcephaly, seizures, and developmental delay is an autosomal recessive neurodevelopmental disorder with onset in infancy. There is a range of phenotypic severity: some patients have a disease course consistent with early infantile epileptic encephalopathy (EIEE), whereas others have more well-controlled seizures and a protracted course associated with cerebellar atrophy and peripheral neuropathy (Shen et al., 2010 and Poulton et al., 2013).For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 (308350).

MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY; MCSZ Is also known as epileptic encephalopathy, early infantile, 10|eiee10

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY; MCSZ

Early infantile epileptic encephalopathy-64 is a neurodevelopmental disorder characterized by onset of seizures usually in the first year of life and associated with intellectual disability, poor motor development, and poor or absent speech. Additional features include hypotonia, abnormal movements, and nonspecific dysmorphic features. The severity is variable: some patients are unable to speak, walk, or interact with others as late as the teenage years, whereas others may have some comprehension (summary by Straub et al., 2018).For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 64; EIEE64

Spastic paraplegia-47 is an autosomal recessive neurodegenerative disorder characterized by neonatal hypotonia that progresses to hypertonia and spasticity and severe mental retardation with poor or absent speech development (summary by Abou Jamra et al., 2011).

SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE; SPG47 Is also known as cpsq5, formerly|cerebral palsy, spastic quadriplegic, 5, formerly

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE; SPG47

Hypomyelinating leukodystrophy-12 is an autosomal recessive neurologic disorder characterized by severely delayed or even lack of psychomotor development that becomes apparent in the first months of life. Patients are markedly disabled, with acquired microcephaly, lack of speech, and often lack of spontaneous movement due to hypotonia and spasticity. Brain imaging shows delayed myelination (summary by Edvardson et al., 2015).For a general phenotypic description and a discussion of genetic heterogeneity of HLD, see {312080}.

VPS11-RELATED AUTOSOMAL RECESSIVE HYPOMYELINATING LEUKODYSTROPHY Is also known as vps11-related autosomal recessive hypomyelinating leukoencephalopathy

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about VPS11-RELATED AUTOSOMAL RECESSIVE HYPOMYELINATING LEUKODYSTROPHY

NDHMSD is a severe neurodevelopmental disorder characterized by profound developmental delay, severe intellectual disability with absent speech, muscular hypotonia, and a hyperkinetic movement disorder. Additional features may include cortical blindness, generalized cerebral atrophy, and seizures (summary by Lemke et al., 2016).

NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL DOMINANT; NDHMSD Is also known as mrd8, formerly|mental retardation, autosomal dominant 8, formerly

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL DOMINANT; NDHMSD

Top 5 symptoms//phenotypes associated to Hydrocephalus and Febrile seizures

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

Other less frequent symptoms

Patients with Hydrocephalus and Febrile seizures. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Microcephaly

Uncommon Symptoms - Between 30% and 50% cases

Absent speech

Common Symptoms - More than 50% cases

Hypoplasia of the corpus callosum

Uncommon Symptoms - Between 30% and 50% cases

Spasticity Abnormal facial shape Focal-onset seizure Hypertonia Intellectual disability, severe Tetraplegia Hyperreflexia Epileptic encephalopathy High palate Encephalopathy Delayed speech and language development Status epilepticus Delayed myelination Inability to walk Focal impaired awareness seizure Cerebellar atrophy Spastic tetraplegia Myoclonus Autistic behavior Epicanthus Short stature Hearing impairment Coarse facial features Muscular hypotonia of the trunk Flexion contracture Motor delay

Rare Symptoms - Less than 30% cases

Bulbous nose Progressive microcephaly Cerebellar hypoplasia Babinski sign Dystonia Proptosis Talipes equinovarus Atonic seizures Absence seizures Immunodeficiency Wide nasal bridge Deeply set eye Autism EEG abnormality Hypertelorism Constipation Gait ataxia Hyperactivity Strabismus Abnormality of the periventricular white matter Paraplegia Spastic paraplegia Short philtrum Wide mouth Muscular hypotonia Limb hypertonia Facial hypotonia Cerebral visual impairment Chorea Sensorineural hearing impairment Postnatal microcephaly Apnea Visual impairment Cognitive impairment Neonatal hypotonia Macrocephaly Spastic tetraparesis Frontal bossing Thin upper lip vermilion Developmental regression Generalized tonic-clonic seizures Smooth philtrum Dysarthria Hemiparesis Hyporeflexia Macrotia Cerebral cortical atrophy Depressed nasal bridge Micrognathia Cortical gyral simplification Polyneuropathy Waddling gait Behavioral abnormality Skeletal muscle atrophy Peripheral neuropathy Neoplasm Ataxia Tall stature Facial asymmetry Pes planus Delayed CNS myelination Narrow forehead Generalized-onset seizure Cerebral atrophy Aggressive behavior Intellectual disability, moderate Abnormality of the eye Abnormal pyramidal sign Abnormality of eye movement Abnormality of movement Joint hypermobility Thick eyebrow Dyskinesia Hypotelorism Feeding difficulties Hypsarrhythmia Tetraparesis Involuntary movements Self-injurious behavior Global brain atrophy Disproportionate tall stature Infantile spasms Bruxism Profound global developmental delay Oculogyric crisis Blindness Pain Open mouth Poor speech Protruding tongue Genu recurvatum Excessive salivation Acetabular dysplasia Everted upper lip vermilion Growth delay Optic atrophy Reduced visual acuity Hepatosplenomegaly Severe global developmental delay Leukodystrophy Failure to thrive Abnormal autonomic nervous system physiology CNS hypomyelination Multiple joint contractures Central hypotonia Developmental stagnation Neurogenic bladder Cerebral hypomyelination Diffuse white matter abnormalities Temperature instability Oromotor apraxia Scoliosis Abnormality of the foot Narrow palate Microtia Dental malocclusion Brachycephaly Anxiety Craniosynostosis Abnormal cardiac septum morphology Short palm High, narrow palate Short foot Hypopigmentation of the skin Bilateral sensorineural hearing impairment Clinodactyly Epidermal acanthosis Bradycardia Low anterior hairline Plagiocephaly Acanthosis nigricans Hypopigmented skin patches Increased intracranial pressure Trigonocephaly Prominent forehead Midface retrusion Radial deviation of finger Ptosis Talipes Thick vermilion border Highly arched eyebrow Prominent nose Cerebral palsy Spastic diplegia Loss of ability to walk Simple febrile seizures Low-set ears Syndactyly Hypertension Brachydactyly Downslanted palpebral fissures Dysphagia Abnormality of the skeletal system Ventricular septal defect Anteverted nares Respiratory insufficiency Malar flattening Cone-shaped epiphysis Tracheoesophageal fistula Posteriorly rotated ears Pachygyria Thimble-shaped middle phalanges of hand Intellectual disability, borderline Atypical absence seizures Nonconvulsive status epilepticus Abnormality of the cerebral white matter Abnormal cerebellum morphology Sepsis Cerebellar vermis hypoplasia Heterotopia Unicoronal synostosis Lissencephaly Hypoplasia of the brainstem Abnormality of neuronal migration Progressive spasticity Mild global developmental delay Agyria Perivascular spaces Type I lissencephaly Cryptorchidism Low-frequency sensorineural hearing impairment Short middle phalanx of toe Short middle phalanx of finger Upper airway obstruction Broad hallux Hypermelanotic macule Tarsal synostosis Hypopigmentation of hair Esophageal atresia Carpal synostosis Coronal craniosynostosis Cone-shaped epiphyses of the phalanges of the hand Aqueductal stenosis Bicoronal synostosis Oxycephaly Anterior plagiocephaly Abnormality of the head Lambdoidal craniosynostosis Parietal foramina Craniofacial asymmetry Hemimegalencephaly Synostosis of carpals/tarsals Capitate-hamate fusion Inappropriate crying


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