Hydrocephalus, and Generalized seizures

Diseases related with Hydrocephalus and Generalized seizures

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


Top matches:

Low match LISSENCEPHALY 5; LIS5

Lissencephaly-5 is an autosomal recessive brain malformation characterized by cobblestone changes in the cortex, more severe in the posterior region, and subcortical band heterotopia. Affected individuals have hydrocephalus, seizures, and severely delayed psychomotor development (summary by Radmanesh et al., 2013).For a general phenotypic description and a discussion of genetic heterogeneity of lissencephaly, see LIS1 (OMIM ).

LISSENCEPHALY 5; LIS5 Is also known as ;cobblestone lissencephaly without muscular or eye involvement; lissencephaly type 2 without muscular or eye involvement; lissencephaly type 2 without muscular or ocular involvement

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia


SOURCES: OMIM UMLS ORPHANET MONDO

More info about LISSENCEPHALY 5; LIS5

Low match 1Q44 MICRODELETION SYNDROME

1q44 microdeletion syndrome is a newly described syndrome associated with facial dysmorphism, developmental delay, in particular of expressive speech, seizures and hypotonia.

1Q44 MICRODELETION SYNDROME Is also known as del(1)(q44); monosomy 1q44

Related symptoms:

  • Global developmental delay
  • Short stature
  • Microcephaly
  • Scoliosis
  • Hypertelorism


SOURCES: ORPHANET

More info about 1Q44 MICRODELETION SYNDROME

Low match ACHONDROPLASIA, SEVERE, WITH DEVELOPMENTAL DELAY AND ACANTHOSIS NIGRICANS; SADDAN

gene; 4p16.3).

ACHONDROPLASIA, SEVERE, WITH DEVELOPMENTAL DELAY AND ACANTHOSIS NIGRICANS; SADDAN Is also known as saddan dysplasia;saddan

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia


SOURCES: UMLS OMIM SCTID ORPHANET

More info about ACHONDROPLASIA, SEVERE, WITH DEVELOPMENTAL DELAY AND ACANTHOSIS NIGRICANS; SADDAN

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Other less relevant matches:

Low 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 globoid cell leukodystrophy;gld;gcl, globoid cell leukoencephalopathy, galactosylceramide beta-galactosidase deficiency, galactocerebrosidase deficiency, galc deficiency

Related symptoms:

  • Autosomal recessive inheritance
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ICD10 SCTID ORPHANET OMIM

More info about KRABBE DISEASE

Low match MUSCLE-EYE-BRAIN DISEASE

A pachygyria-polymicrogyria syndrome with many features overlapping those of Walker-Warburg and cerebro-oculo-muscular syndromes. The phenotype consists of congenital brain abnormalities, mainly type II or hydrocephalic lissencephaly (smoothness of the brain) and polymicrogyria (development of numerous small convolutions of the brain) in association with muscular dystrophy, ocular defects with visual failure, mental retardation, hydrocephalus, and other defects.

MUSCLE-EYE-BRAIN DISEASE Is also known as meb syndrome; muscle-eye-brain syndrome; santavuori congenital muscular dystrophy

Related symptoms:

  • Seizures
  • Strabismus
  • Muscular hypotonia
  • Cataract
  • Cognitive impairment


SOURCES: UMLS ORPHANET

More info about MUSCLE-EYE-BRAIN DISEASE

Low match MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1; MVA1

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;warburton-anyane-yeboa syndrome

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature


SOURCES: MONDO DOID ORPHANET OMIM SCTID UMLS

More info about MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1; MVA1

Low match COFFIN-LOWRY SYNDROME; CLS

Coffin-Lowry syndrome is a rare form of X-linked mental retardation characterized by skeletal malformations, growth retardation, hearing deficit, paroxysmal movement disorders, and cognitive impairment in affected males and some carrier females (Kesler et al., 2007).Hendrich and Bickmore (2001) reviewed human disorders which share in common defects of chromatin structure or modification, including the ATR-X spectrum of disorders (OMIM ), ICF syndrome (OMIM ), Rett syndrome (OMIM ), Rubinstein-Taybi syndrome (OMIM ), and Coffin-Lowry syndrome.Marques Pereira et al. (2010) provided a review of Coffin-Lowry syndrome.Mutation in the RPS6KA3 gene can also cause nonsyndromic X-linked mental retardation-19 (MRX19 ), a milder disorder without skeletal anomalies.

COFFIN-LOWRY SYNDROME; CLS Is also known as ;cls

Related symptoms:

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


SOURCES: NCIT SCTID OMIM UMLS MESH MONDO ORPHANET

More info about COFFIN-LOWRY SYNDROME; CLS

Low match HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 2; HYC2

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Seizures
  • Macrocephaly
  • Hydrocephalus


SOURCES: UMLS OMIM MONDO

More info about HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 2; HYC2

Low match HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 1; HYC1

Autosomal recessive nonsyndromic hydrocephalus 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 autosomal recessive HYC2 (OMIM ), caused by mutation in the MPDZ gene (OMIM ) on chromosome 9p.An X-linked form (OMIM ) is caused by mutation in the L1CAM gene on (OMIM ) on chromosome Xq28.

HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 1; HYC1 Is also known as hydrocephaly, ventriculomegaly

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Seizures
  • Ventriculomegaly
  • Intellectual disability, severe


SOURCES: OMIM MONDO GARD UMLS

More info about HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 1; HYC1

Low match PAPILLOMA OF CHOROID PLEXUS

Papilloma of the choroid plexus is a rare benign type of choroid plexus tumor (see this term), accounting for 1% of all brain tumors, often occurring in the fourth ventricle (in adults) and the lateral ventricle (in children) but sometimes arising ectopically in the brain parenchyma, and presenting with nausea, vomiting, papilledema, abnormal eye movements, as well as enlarged head circumference, seizures and gait impairment due to an increase in intracranial pressure.

PAPILLOMA OF CHOROID PLEXUS Is also known as cpp; choroid plexus papilloma

Related symptoms:

  • Seizures
  • Cognitive impairment
  • Neoplasm
  • Visual impairment
  • Hydrocephalus


SOURCES: ORPHANET SCTID

More info about PAPILLOMA OF CHOROID PLEXUS

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

Symptoms // Phenotype % cases
Seizures Very Common - Between 80% and 100% cases
Global developmental delay Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Autosomal recessive inheritance Uncommon - Between 30% and 50% cases
Muscular hypotonia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Generalized hypotonia Hearing impairment Cognitive impairment Microcephaly Severe global developmental delay Ventriculomegaly Frontal bossing Hypertonia Gait disturbance Intellectual disability, severe Optic atrophy Cataract Epicanthus Strabismus Hypertelorism Short stature Visual impairment Hemiplegia/hemiparesis Depressed nasal bridge Macrocephaly Coma Aplasia/Hypoplasia of the cerebellum

Rare Symptoms - Less than 30% cases


Aplasia/Hypoplasia of the corpus callosum Sleep apnea Wide anterior fontanel Feeding difficulties in infancy Wide nose Midface retrusion Brain atrophy Cloverleaf skull Congenital onset Congestive heart failure Kyphosis Hypoplasia of the corpus callosum Abnormality of the skeletal system Holoprosencephaly Anteverted nares Protruding ear Glaucoma Myopathy Progressive spasticity Generalized tonic-clonic seizures EMG abnormality Generalized myoclonic seizures EEG abnormality Neurological speech impairment Dilatation Peripheral neuropathy Pica Neoplasm Sensorineural hearing impairment Nystagmus Downslanted palpebral fissures Abnormal facial shape Tetraplegia Telecanthus High palate Micrognathia Muscular dystrophy Growth delay Mental deterioration Hemiplegia Agenesis of corpus callosum Upslanted palpebral fissure High forehead Scoliosis Neurodegeneration Abnormality of the cerebral white matter Oxycephaly Polymicrogyria Cerebellar hypoplasia Skeletal muscle atrophy Triangular mouth Brachydactyly Premature chromatid separation Muscle weakness Cerebral hypoplasia Vaginal neoplasm Hypodysplasia of the corpus callosum Embryonal rhabdomyosarcoma Cardiomyopathy Tics Abnormal cardiac septum morphology Intellectual disability, mild Wide mouth Everted lower lip vermilion Short distal phalanx of finger Thick eyebrow Dilated cardiomyopathy Joint hyperflexibility Pectus carinatum Hyperlordosis Sporadic Pectus excavatum Kyphoscoliosis Pes planus Macrotia Coarse facial features Mandibular prognathia Increased nuchal translucency Delayed skeletal maturation Inguinal hernia Cerebral cortical atrophy Mild microcephaly Rhabdomyosarcoma Osteolysis Myelodysplasia Aortic regurgitation Sarcoma Abnormality of vision Progressive Multicystic kidney dysplasia Hyperpigmentation of the skin Nephroblastoma Dandy-Walker malformation Intellectual disability, profound Coarctation of aorta Depressed nasal ridge Primary amenorrhea Ambiguous genitalia Bifid scrotum Abnormality of immune system physiology Stomach cancer Duodenal atresia Abnormal aortic morphology Short sternum Subvalvular aortic stenosis Single transverse palmar crease Intestinal polyposis Abnormality of the upper limb Acute leukemia Combined immunodeficiency Multiple renal cysts Abnormality of the skull Acute lymphoblastic leukemia Multiple cafe-au-lait spots Abnormal lung lobation Colon cancer Tapered finger Short metacarpal Delayed eruption of teeth Abnormal diaphysis morphology Narrow iliac wings Abnormal mitral valve morphology Abnormal aortic valve morphology Advanced eruption of teeth Rectal prolapse Premature loss of primary teeth Thick nasal alae Lumbar kyphosis Restrictive cardiomyopathy Hyperextensibility of the finger joints Myelopathy Craniofacial hyperostosis Delayed closure of the anterior fontanelle Severe sensorineural hearing impairment Loss of consciousness Death in early adulthood Hyperconvex fingernails Hypoplastic fingernail Thick nasal septum Abnormality of nervous system morphology Dilated fourth ventricle Spontaneous abortion Communicating hydrocephalus Cortical gyral simplification Drumstick terminal phalanges Abnormality of the nasal alae Abnormal tricuspid valve morphology Bifid sternum Uterine prolapse Pseudoepiphyses of the metacarpals Retinoschisis Stooped posture Broad finger Cataplexy Abnormality of digit Soft skin Joint hypermobility Abnormal form of the vertebral bodies Abnormality of retinal pigmentation Mitral regurgitation Abnormality of the hair X-linked dominant inheritance Cerebellar vermis hypoplasia Open mouth Psychosis Narrow palate Thick lower lip vermilion Dental malocclusion Thick vermilion border Amenorrhea Hypodontia Hypoplasia of the maxilla Highly arched eyebrow Decreased body weight Coxa valga Spinal canal stenosis Broad hallux Anteriorly placed anus Atonic seizures Thickened calvaria Broad palm Abnormality of neuronal migration Self-injurious behavior Emphysema Cutis marmorata Cutis laxa Abnormality of dental morphology Large hands Prominent supraorbital ridges Schizophrenia Redundant skin Widely spaced teeth Coarse hair Sloping forehead Small for gestational age Oligohydramnios Spasticity Fever Hyperreflexia Feeding difficulties Infantile spasms Nevus Porencephalic cyst Type II lissencephaly Occipital encephalocele Gray matter heterotopias Failure to thrive Right hemiplegia Ataxia Enlarged cerebellum Aplasia/Hypoplasia of the mandible Tremor Blindness Metaphyseal chondrodysplasia Muscular hypotonia of the trunk Sensory neuropathy Pallor Irritability Developmental regression Clonus Weight loss Hypoplasia of the brainstem Abnormality of metabolism/homeostasis Reduced visual acuity Recurrent respiratory infections Cephalocele Pes cavus Vomiting Behavioral abnormality Fibular bowing Central apnea Lissencephaly Prominent metopic ridge Respiratory failure Severe short stature Delayed speech and language development Autosomal dominant inheritance Exaggerated cupid's bow Optic disc hypoplasia Biparietal narrowing Skeletal dysplasia Preauricular skin tag Horseshoe kidney Synophrys Intestinal malrotation Vesicoureteral reflux Thin vermilion border Gastroesophageal reflux Craniosynostosis Abnormality of the clavicle Rhizomelia Megalencephaly Mesomelia Thoracic hypoplasia Femoral bowing Tibial bowing Acanthosis nigricans Exotropia Platyspondyly Pulmonary arterial hypertension Epidermal acanthosis Otitis media Lumbar hyperlordosis High myopia Micromelia Falls Optic disc pallor Ascites Spastic paraplegia Hypospadias Microphthalmia Malar flattening Long philtrum Short nose Atrial septal defect Short neck Immunodeficiency Wide nasal bridge Intrauterine growth retardation Low-set ears Cryptorchidism Paraplegia Cleft palate Clinodactyly of the 5th finger Polyhydramnios Meningocele Abnormality of the eye Triangular face Leukemia Abnormality of skin pigmentation Renal cyst Corneal opacity Smooth philtrum Apnea Posteriorly rotated ears Carcinoma Low-set, posteriorly rotated ears Postnatal growth retardation Hypothyroidism Abnormality of the genital system Micropenis Brachycephaly Abnormal cerebellum morphology Abnormality of the voice Peripheral demyelination CNS hypomyelination Ankle clonus Opisthotonus Global brain atrophy Absence seizures Postural tremor Decreased nerve conduction velocity Spastic tetraparesis Heterotopia Sensorimotor neuropathy Leukodystrophy Leukoencephalopathy Horizontal nystagmus Frequent falls Tetraparesis Hyperactive deep tendon reflexes Autoimmune thrombocytopenia Abnormality of movement Decerebrate rigidity Spastic tetraplegia Encephalocele Elevated serum creatine phosphokinase Myopia Progressive neurologic deterioration Abnormal flash visual evoked potentials Abnormal nerve conduction velocity Increased CSF protein CNS demyelination Demyelinating peripheral neuropathy Abnormality of the thumb Aplasia/Hypoplasia of the abdominal wall musculature Diffuse cerebral atrophy Motor deterioration Episodic fever Choroid plexus papilloma


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