Hydrocephalus, and Generalized myoclonic seizures

Diseases related with Hydrocephalus and Generalized myoclonic seizures

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

Top matches:

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

Medium match KRABBE DISEASE

Krabbe disease is an autosomal recessive lysosomal disorder affecting the white matter of the central and peripheral nervous systems. Most patients present within the first 6 months of life with 'infantile' or 'classic' disease manifest as extreme irritability, spasticity, and developmental delay (Wenger et al., 2000). There is severe motor and mental deterioration, leading to decerebration and death by age 2 years. Approximately 10 to 15% of patients have a later onset, commonly differentiated as late-infantile (6 months to 3 years), juvenile (3 to 8 years), and even adult-onset forms. The later-onset forms have less disease severity and slower progression. These later-onset patients can be clinically normal until weakness, vision loss and intellectual regression become evident; those with adult onset may have spastic paraparesis as the only symptom. Disease severity is variable, even within families (summary by Tappino et al., 2010).

KRABBE DISEASE Is also known as gcl|galc deficiency|galactosylceramide beta-galactosidase deficiency|globoid cell leukodystrophy|galactocerebrosidase deficiency|globoid cell leukoencephalopathy|gld

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Ataxia


SOURCES: OMIM ORPHANET MENDELIAN

More info about KRABBE DISEASE

Mosaic variegated aneuploidy is an autosomal recessive disorder characterized by mosaic aneuploidies, predominantly trisomies and monosomies, involving multiple different chromosomes and tissues. The proportion of aneuploid cells varies but is usually more than 25% and is substantially greater than in normal individuals. Affected individuals typically present with severe intrauterine growth retardation and microcephaly. Eye anomalies, mild dysmorphism, variable developmental delay, and a broad spectrum of additional congenital abnormalities and medical conditions may also occur. The risk of malignancy is high, with rhabdomyosarcoma, Wilms tumor, and leukemia reported in several cases (summary by Hanks et al., 2004). Genetic Heterogeneity of Mosaic Variegated Aneuploidy SyndromeSee also MVA2 (OMIM ), caused by mutation in the CEP57 gene (OMIM ) on chromosome 11q21, and MVA3 (OMIM ), caused by mutation in the TRIP13 gene (OMIM ) on chromosome 5p15.

MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1; MVA1 Is also known as mva syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1; MVA1

Other less relevant matches:

Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD; see this term) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1 (see this term).

GAUCHER DISEASE TYPE 3 Is also known as chronic neuronopathic gaucher disease|cerebral juvenile and adult form of gaucher disease|gaucher disease, subacute neuronopathic type

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Scoliosis


SOURCES: ORPHANET MENDELIAN

More info about GAUCHER DISEASE TYPE 3

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

Lissencephaly-8 is an autosomal recessive neurologic disorder characterized by delayed psychomotor development, intellectual disability with poor or absent speech, early-onset refractory seizures, and hypotonia. Brain imaging shows variable features, including cortical gyral abnormalities and hypoplasia of the corpus callosum, brainstem, and cerebellum (summary by Jerber et al., 2016).For a general description and a discussion of genetic heterogeneity lissencephaly, see LIS1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about LISSENCEPHALY 8; LIS8

Low match WEST SYNDROME

West syndrome (or infantile spasms) is characterised by the association of clusters of axial spasms, psychomotor retardation and an hypsarrhythmic interictal EEG pattern. It is the most frequent type of epileptic encephalopathy. It may occur in otherwise healthy infants and in those with abnormal cognitive development.

WEST SYNDROME Is also known as intellectual disability-hypsarrhythmia syndrome|infantile spasm syndrome, x-linked 1|xmesid|west syndrome, x-linked|ohtahara syndrome, x-linked|infantile spasms|infantile epileptic-dyskinetic encephalopathy|issx1

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about WEST SYNDROME

Lennox-Gastaut syndrome (LGS) belongs to the group of severe childhood epileptic encephalopathies.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Ptosis
  • Low-set ears


SOURCES: OMIM ORPHANET MENDELIAN

More info about LENNOX-GASTAUT SYNDROME

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 66; EIEE66

Combined immunodeficiency with faciooculoskeletal anomalies is an extremely rare combined immunodeficiency disorder characterized by primary immunodeficiency manifesting with repeated bacterial, viral and fungal infections, in association with neurological manifestations (hypotonia, cerebellar ataxia, myoclonic seizures), developmental delay, optic atrophy, facial dysmorphism (high forehead, hypoplastic supraorbital ridges, palpebral edema, hypertelorism, flat nasal bridge, broad nasal root and tip, anteverted nares, thin lower lip overlapped by upper lip, square chin) and skeletal anomalies (short metacarpals/metatarsals with cone-shaped epiphyses, osteopenia).

COMBINED IMMUNODEFICIENCY WITH FACIOOCULOSKELETAL ANOMALIES Is also known as combined immunodeficiency, facial dysmorphism, optic nerve atrophy, skeletal anomalies, and developmental delay|roifman-chitayat syndrome

Related symptoms:

  • Seizures
  • Global developmental delay
  • Hypertelorism
  • Abnormal facial shape
  • Depressed nasal bridge


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about COMBINED IMMUNODEFICIENCY WITH FACIOOCULOSKELETAL ANOMALIES

Top 5 symptoms//phenotypes associated to Hydrocephalus and Generalized myoclonic seizures

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
Ventriculomegaly Uncommon - Between 30% and 50% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Spasticity Optic atrophy Mental deterioration Hyperreflexia Nystagmus Generalized tonic-clonic seizures Microcephaly Ataxia Wide nasal bridge Depressed nasal bridge Low-set ears Abnormal facial shape Gait disturbance Cataract Hypertonia Behavioral abnormality Hypertelorism Recurrent respiratory infections Epileptic encephalopathy Muscular hypotonia of the trunk Neurodegeneration Lissencephaly Hypoplasia of the brainstem Tetraparesis Myoclonus Hypoplasia of the corpus callosum Intellectual disability, severe Cerebellar hypoplasia Encephalopathy Dysphagia Brain atrophy Short stature

Rare Symptoms - Less than 30% cases

Aggressive behavior Status epilepticus Growth delay Progressive neurologic deterioration Polymicrogyria Delayed speech and language development Muscular dystrophy Hypsarrhythmia Opisthotonus Micropenis Dyspnea Osteopenia Global brain atrophy Hemiplegia Spastic tetraparesis Downslanted palpebral fissures High forehead Encephalocele Combined immunodeficiency Strabismus Intellectual disability, profound Immunodeficiency Infantile spasms Occipital encephalocele Short neck Type II lissencephaly Epicanthus Dystonia Anemia Macrocephaly Severe global developmental delay Cryptorchidism Myopia Posteriorly rotated ears Autistic behavior Delayed ability to walk Vomiting EEG abnormality Hearing impairment Failure to thrive Spastic tetraplegia Rigidity Developmental regression Enlarged cisterna magna Talipes equinovarus Muscular hypotonia Pallor Small for gestational age Cognitive impairment Agenesis of corpus callosum Falls Visual impairment Abnormality of the cerebral white matter Intellectual disability, progressive Tremor Vertebral compression fractures Hypercoagulability Arthritis Short metacarpal Short metatarsal Supranuclear gaze palsy Atonic seizures Multiple myeloma Spontaneous hematomas Erlenmeyer flask deformity of the femurs Orthopnea Mitral valve calcification Umbilical hernia Abnormal saccadic eye movements Aortic valve calcification Abnormal thrombosis Abnormal myocardium morphology Generalized osteosclerosis Astrocytosis Protein-losing enteropathy Restrictive deficit on pulmonary function testing Slow saccadic eye movements Abnormality of the spleen Avascular necrosis of the capital femoral epiphysis Aseptic necrosis Thoracic kyphosis Pulmonary fibrosis Hydrops fetalis Bone pain Lymphopenia Increased bone mineral density Osteolysis Oculomotor apraxia Leukopenia Increased susceptibility to fractures Hypoalbuminemia Cholelithiasis Portal hypertension Abnormality of the thorax Clubbing Menorrhagia Increased antibody level in blood Cone-shaped epiphysis Lower limb hyperreflexia Hepatocellular carcinoma Hematological neoplasm Abnormal heart valve morphology Exertional dyspnea Bulbar palsy Abnormality of the sternum Abnormal retinal morphology Lacrimal duct stenosis Pericardial effusion Ectopic kidney Underdeveloped supraorbital ridges Interstitial pulmonary abnormality Restrictive ventilatory defect Petechiae Decreased beta-glucocerebrosidase protein and activity Paraplegia Horizontal supranuclear gaze palsy Muscle fibrillation Elevated serum creatine phosphokinase Atypical absence seizures Abnormal myelination Personality disorder Abnormality of the nervous system Poor speech Dyskinesia Chorea Abnormality of brainstem morphology Generalized tonic seizures Choreoathetosis Progressive microcephaly Hyperkinesis Epileptic spasms Microphthalmia Developmental stagnation Spastic ataxia Abnormality of skin morphology Ptosis Abnormality of the periventricular white matter Abnormality of the dentition Cerebral atrophy Hyperactivity Gastroesophageal reflux Focal-onset seizure Gingival overgrowth Tented upper lip vermilion Relative macrocephaly Absent speech Frontotemporal cerebral atrophy Cardiac valve calcification Tetraplegia Pneumonia Abnormality of ion homeostasis Abnormality of the acoustic reflex Sleep myoclonus Spastic paraplegia Abnormality of the skeletal system Obsessive-compulsive behavior Cerebral visual impairment Broad-based gait Coma Abnormal cerebellum morphology Neutropenia Downturned corners of mouth Astigmatism CNS infection Synophrys Heterotopia Absence seizures Leukoencephalopathy Hypermetropia Abnormal cardiac septum morphology Porencephalic cyst Wide mouth Thin upper lip vermilion Autism EEG with focal sharp slow waves Gray matter heterotopias Right hemiplegia Myopathy Decreased body weight Edema Intention tremor Episodic fever Clonus Leukodystrophy Sensorimotor neuropathy Horizontal nystagmus EMG abnormality Paraparesis Spastic paraparesis CNS hypomyelination Decreased nerve conduction velocity Postural tremor Hemiplegia/hemiparesis Progressive spasticity Ankle clonus Hyperactive deep tendon reflexes Autoimmune thrombocytopenia Frequent falls Abnormal nerve conduction velocity Cleft palate Micrognathia Neoplasm Abnormal flash visual evoked potentials Unexplained fevers Decerebrate rigidity CNS demyelination Increased CSF protein Aplasia/Hypoplasia of the abdominal wall musculature Cloverleaf skull Demyelinating peripheral neuropathy Abnormality of the thumb Motor deterioration Diffuse cerebral atrophy Progressive muscle weakness Optic disc pallor Anteverted nares Pachygyria Self-mutilation Generalized amyotrophy Multiple joint contractures Athetosis Poor head control Knee flexion contracture Sloping forehead Hydranencephaly Prominent nasal bridge Macrotia Proptosis Skeletal muscle atrophy Motor delay Flexion contracture Profound global developmental delay Severe hydrocephalus Peripheral demyelination Visual loss Sensory neuropathy Protruding ear Irritability Reduced visual acuity Weight loss Pes cavus Abnormality of metabolism/homeostasis Sensorineural hearing impairment Dilatation Blindness Fever Peripheral neuropathy Feeding difficulties Muscle weakness Intrauterine growth retardation Short nose Epistaxis Arrhythmia Difficulty walking Hepatosplenomegaly Abdominal pain Osteoporosis Dementia Delayed skeletal maturation Depressivity Abnormal pyramidal sign Thrombocytopenia Kyphosis Splenomegaly Congestive heart failure Diarrhea Fatigue Proteinuria Corneal opacity Scoliosis Abdominal distention Pulmonary arterial hypertension Pancytopenia Cyanosis Syncope Abnormal bleeding Progressive cerebellar ataxia Ascites Ophthalmoplegia Hematuria Cirrhosis Lymphadenopathy Abnormality of eye movement Delayed puberty Malabsorption Hepatomegaly Hypodysplasia of the corpus callosum Long philtrum Postnatal growth retardation Oligohydramnios Amenorrhea Dandy-Walker malformation Renal cyst Wide nose Leukemia Feeding difficulties in infancy Primary amenorrhea Brachycephaly Upslanted palpebral fissure Clinodactyly Hypospadias Midface retrusion Malar flattening Ambiguous genitalia Hyperpigmentation of the skin Embryonal rhabdomyosarcoma Acute leukemia Premature chromatid separation Cerebral hypoplasia Triangular mouth Rhabdomyosarcoma Short sternum Mild microcephaly Multiple renal cysts Sarcoma Severe intrauterine growth retardation Acute lymphoblastic leukemia Bifid scrotum Nephroblastoma Limb-girdle muscular dystrophy Myelodysplasia Thin lower lip vermilion


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