Hydrocephalus, and Dysmetria

Diseases related with Hydrocephalus and Dysmetria

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

Top matches:

In decreasing order of frequency, 3 forms of Alexander disease are recognized, based on age of onset: infantile, juvenile, and adult. Younger patients typically present with seizures, megalencephaly, developmental delay, and spasticity. In older patients, bulbar or pseudobulbar symptoms predominate, frequently accompanied by spasticity. The disease is progressive, with most patients dying within 10 years of onset. Imaging studies of the brain typically show cerebral white matter abnormalities, preferentially affecting the frontal region (Gorospe et al., 2002). All 3 forms have been shown to be caused by mutations in the GFAP gene.

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ALEXANDER DISEASE; ALXDRD

Multiple sulfatase deficiency (MSD) is a very rare and fatal lysosomal storage disease characterized by a clinical phenotype that combines the features of different sulfatase deficiencies (whether lysosomal or not) that can have neonatal (most severe), infantile (most common) and juvenile (rare) presentations with manifestations including hypotonia, coarse facial features, mild deafness, skeletal anomalies, ichthyosis, hepatomegaly, developmental delay, progressive neurologic deterioration and hydrocephalus.

MULTIPLE SULFATASE DEFICIENCY Is also known as sulfatidosis, juvenile, austin type|mucosulfatidosis|juvenile sulfatidosis, austin type|msd

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about MULTIPLE SULFATASE DEFICIENCY

VELOCARDIOFACIAL SYNDROME Is also known as chromosome 22q11.2 deletion syndrome|shprintzen vcf syndrome|vcf syndrome|vcfs

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about VELOCARDIOFACIAL SYNDROME

Other less relevant matches:

Alpha-mannosidosis is an autosomal recessive lysosomal storage disease characterized by mental retardation, coarse facial features, skeletal abnormalities, hearing impairment, neurologic motor problems, and immune deficiency. Expression of the disease varies considerably, and there is a wide spectrum of clinical findings and severity. Affected children are often normal at birth and during early development. They present in early childhood with delayed psychomotor development, delayed speech, and hearing loss. Additional features include large head with prominent forehead, rounded eyebrows, flattened nasal bridge, macroglossia, widely spaced teeth, dysostosis multiplex, and motor impairment (summary by Malm and Nilssen, 2008). Classification SystemsTwo classification systems have been used to describe the clinical presentation of alpha-mannosidosis. The earlier system delineated a more severe 'type I,' which shows infantile onset, rapid mental deterioration, hypotonia, splenomegaly, severe dysostosis multiplex, and severe recurrent infections, often resulting in death by age 8 years. Individuals with the less severe 'type II' show normal early development with later childhood development of mental retardation, hearing loss, coarse facies, neurologic deterioration, and survival well into adulthood (summary by Desnick et al., 1976 and Gotoda et al., 1998). A later classification system delineated 3 clinical types. Type 1 is the mildest form, with onset after age 10 years, without skeletal abnormalities and very slow progression. Type 2 is a moderate form, with onset before age 10 years, presence of skeletal abnormalities, and slow progression with development of ataxia by age 20 to 30 years. Type 3 is the severe form, with onset in early infancy, skeletal abnormalities, and obvious progression leading to early death from primary central nervous system involvement or myopathy. Most patients belong to clinical type 2 (summary by Malm and Nilssen, 2008). Despite the clinical heterogeneity of the disorder, there are no apparent genotype/phenotype correlations (Berg et al., 1999; Riise Stensland et al., 2012).

MANNOSIDOSIS, ALPHA B, LYSOSOMAL; MANSA Is also known as alpha-mannosidosis|lysosomal alpha-d-mannosidase deficiency|alpha-mannosidase b deficiency

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MANNOSIDOSIS, ALPHA B, LYSOSOMAL; MANSA

Oxoglutaric aciduria is a very rare tricarboxylic acid cycle disorder (see this term), resulting from a deficiency in alpha-ketoglutarate dehydrogenase (one of the three subunits of the alpha-ketoglutarate dehydrogenase complex), that most often presents in the neonatal period with hypotonia, severe encephalopathy, extrapyramidal signs, pyramidal tract dysfunction and seizures and that frequently results in death in early childhood. Metabolic acidosis, elevated lactate and glutamate levels and variable degrees of glutaric aciduria are noted. Sudden death, myocardiopathy, and hepatic disorders have also been reported in some cases.

OXOGLUTARIC ACIDURIA Is also known as 2-ketoglutarate dehydrogenase deficiency|alpha-kgd deficiency|oxoglutaric aciduria|alpha-ketoglutarate dehydrogenase deficiency

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Ataxia
  • Muscular hypotonia


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about OXOGLUTARIC ACIDURIA

Atypical teratoid rhabdoid tumor (ATRT) is a highly malignant central nervous system (CNS) rhabdoid tumor (RT; see this term) found almost exclusively in children.

ATYPICAL TERATOID RHABDOID TUMOR Is also known as atrt

Related symptoms:

  • Seizures
  • Ataxia
  • Muscle weakness
  • Macrocephaly
  • Hydrocephalus


SOURCES: ORPHANET MENDELIAN

More info about ATYPICAL TERATOID RHABDOID TUMOR

Arnold-Chiari malformation type II is a rare, central nervous system malformation characterized by caudal displacement of the cerebellum, pons, medulla and fourth ventricle through the foramen magnum into the spinal canal, and is typically associated with myelomeningocele. Variable other central nervous system abnormalities might be present (partial or complete agenesis of the corpus callosum, a small fourth ventricle, obstructive hydrocephalus, falx and tentorium defects, and polygyria). Symptoms include hypotonia, apnea with cyanosis, dysphagia, opisthotonus, nystagmus, spasticity, ataxia, and occipital headache.

ARNOLD-CHIARI MALFORMATION TYPE II Is also known as cm2|arnold-chiari malformation|chiari malformation type ii|chiari malformation type 2|arnold-chiari malformation type 2

Related symptoms:

  • Generalized hypotonia
  • Ataxia
  • Nystagmus
  • Muscular hypotonia
  • Spasticity


SOURCES: OMIM ORPHANET MENDELIAN

More info about ARNOLD-CHIARI MALFORMATION TYPE II

Sporadic Creutzfeldt-Jakob disease (sCJD) is a subacute fatal neurodegenerative disease belonging to the group of prion diseases, characterized by a clinical triad of dementia, myoclonus, and EEG anomalies, along with neuropathological evidence of neuronal loss, spongiform changes, and astrocytosis. There are three types of CJD: sporadicCJD (sCJD), inherited CJD (see this term), and iatrogenic and variant CJD (vCJD).

SPORADIC CREUTZFELDT-JAKOB DISEASE Is also known as sporadic cjd|creutzfeldt-jakob disease, familial

Related symptoms:

  • Ataxia
  • Cataract
  • Spasticity
  • Visual impairment
  • Peripheral neuropathy


SOURCES: OMIM ORPHANET MENDELIAN

More info about SPORADIC CREUTZFELDT-JAKOB DISEASE

Lhermitte-Duclos disease (LDD) is a very rare disorder characterized by abnormal development and enlargement of the cerebellum, and an increased intracranial pressure.

LHERMITTE-DUCLOS DISEASE Is also known as dysplastic gangliocytoma of the cerebellum|ldd

Related symptoms:

  • Seizures
  • Ataxia
  • Macrocephaly
  • Hydrocephalus
  • Headache


SOURCES: ORPHANET MENDELIAN

More info about LHERMITTE-DUCLOS DISEASE

Kohlschütter-Tönz syndrome (KTS) is a genetically heterogeneous autosomal recessive syndrome characterized by the triad of amelogenesis imperfect, infantile onset epilepsy, intellectual disability with or without regression and dementia.

AMELOCEREBROHYPOHIDROTIC SYNDROME Is also known as epilepsy and yellow teeth|kohlschutter syndrome|kohlschutter-tonz syndrome|epilepsy, dementia, and amelogenesis imperfecta|epilepsy-dementia-amelogenesis imperfecta syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about AMELOCEREBROHYPOHIDROTIC SYNDROME

Top 5 symptoms//phenotypes associated to Hydrocephalus and Dysmetria

Symptoms // Phenotype % cases
Ataxia Very Common - Between 80% and 100% cases
Spasticity Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Mental deterioration Muscular hypotonia Macrocephaly Hyperreflexia Cataract Peripheral demyelination Generalized hypotonia Dementia Depressivity Short stature Nystagmus Delayed speech and language development Neurodegeneration Progressive neurologic deterioration Gliosis Delusions Cerebral atrophy Nausea and vomiting Abnormality of the cerebral white matter Headache Muscle weakness Cerebellar atrophy Developmental regression Ventriculomegaly Behavioral abnormality Intellectual disability, severe Scoliosis Hallucinations Motor delay Hearing impairment Microcephaly Apathy Dysphagia Short neck Increased CSF protein High palate Cognitive impairment Anxiety Recurrent infections

Rare Symptoms - Less than 30% cases

Sensorineural hearing impairment Splenomegaly Visual impairment Abnormal facial shape Abnormality of the skeletal system Corneal opacity Prominent forehead Coarse facial features Hepatosplenomegaly Optic atrophy Hepatomegaly Depressed nasal bridge Skeletal muscle atrophy Myelomeningocele Smooth philtrum Hernia Increased intracranial pressure Macroglossia Arnold-Chiari malformation Spina bifida Psychosis Arthritis Confusion Umbilical hernia Inguinal hernia Absent speech Retinal degeneration Immunodeficiency Encephalopathy Irritability Cranial nerve paralysis Paralysis Dysostosis multiplex Coarse hair Broad thumb Thick eyebrow Gait ataxia Myopathy Dysarthria Bowel incontinence Neurological speech impairment Abnormal pyramidal sign Chorea EEG abnormality Amenorrhea Osteopenia Cerebral calcification Hypothyroidism Frontal bossing Leukodystrophy Gait disturbance Feeding difficulties Agenesis of corpus callosum Tremor Kyphosis Muscle fibrillation Failure to thrive Growth delay Bulbar signs Femoral bowing Long ear Retinal thinning Bronchitis Thickened calvaria Abnormality of the sternum Open bite Neurodevelopmental delay Bowing of the legs Flat occiput Heart murmur Chronic otitis media Prominent supraorbital ridges Hypoplasia of dental enamel Abnormality of the gingiva Abnormal echocardiogram Cranial hyperostosis Thoracolumbar kyphosis Abnormal cornea morphology Abnormality of the rib cage Abnormality of dental enamel Craniofacial hyperostosis Spondylolisthesis Abnormality of the helix Reduced ejection fraction Synovitis Vacuolated lymphocytes Impaired smooth pursuit Patellar dislocation Hypohidrosis Severe sensorineural hearing impairment Aseptic necrosis Limb dystonia Hydrocele testis Hemiparesis Widely spaced teeth Skeletal dysplasia Abnormality of dental color Genu valgum Abnormality of the foot Hypermetropia Broad forehead Pectus carinatum Respiratory tract infection Kyphoscoliosis Progressive cerebellar ataxia Macrotia Mandibular prognathia Recurrent respiratory infections Babinski sign Delayed skeletal maturation Areflexia Midface retrusion Malar flattening Highly arched eyebrow Delayed myelination Recurrent bacterial infections Tall stature Narrow palate Synostosis of joints Low anterior hairline Spastic gait Amelogenesis imperfecta Limb ataxia Gingival overgrowth Amblyopia Bowing of the long bones Dental malocclusion Hypertrichosis Depressed nasal ridge Pancytopenia Type II diabetes mellitus Optic disc pallor Hip dysplasia Otitis media Decreased antibody level in blood Cerebral dysmyelination Abnormality of the ilium Oligosacchariduria Inspiratory stridor Papule Polymicrogyria Peripheral neuropathy Occipital neuralgia Cervical myelopathy Hand polydactyly Ovarian neoplasm Syringomyelia Extrapyramidal muscular rigidity Acrokeratosis Neoplasm of the thyroid gland Weak cry Fibroadenoma of the breast Partial agenesis of the corpus callosum Opisthotonus Stridor Enlarged cerebellum Hirano bodies Loss of facial expression Cyanosis Truncal ataxia Memory impairment Abnormal cerebellum morphology Unsteady gait Rigidity Reduced visual acuity Myoclonus Choreoathetosis Cerebral visual impairment Language impairment Normal pressure hydrocephalus Personality changes Aphasia Blurred vision Visual field defect Visual hallucinations Supranuclear gaze palsy Dysesthesia Blindness Heterotopia Intellectual disability, mild Spondylolysis Progressive joint destruction Hypsarrhythmia Acidosis Hypertonia Spinocerebellar tract disease in lower limbs Intellectual disability, profound Flattened moderately deformed vertebrae Cerebellar vermis hypoplasia Synovial hypertrophy Abnormality of dental structure Muscular hypotonia of the trunk Antineutrophil antibody positivity Abnormality of joint mobility Neuronal loss in central nervous system Hypoplastic inferior ilia Decreased pulmonary function Generalized abnormality of skin Increased hepatic glycogen content Increased vertebral height Hypoglycemia Abnormality of movement Trichilemmoma Upslanted palpebral fissure Apnea Malignant neoplasm of the central nervous system Reduced consciousness/confusion Hemiplegia/hemiparesis Cerebral palsy Cerebellar hypoplasia Migraine Limitation of joint mobility Abnormality of Krebs cycle metabolism Lactic acidosis Abnormal urine alpha-ketoglutarate concentration Congenital lactic acidosis Abnormal salivary gland morphology Severe global developmental delay Increased serum lactate Focal-onset seizure Metabolic acidosis Epileptic encephalopathy Limb muscle weakness Bipolar affective disorder Abnormality of the dentition Broad hallux CNS demyelination Olivopontocerebellar atrophy Broad hallux phalanx Developmental stagnation Large forehead Abnormality of the periventricular white matter Lower limb hyperreflexia Abnormality of retinal pigmentation Abnormality of peripheral nerve conduction Flat face Ichthyosis Skin rash Joint stiffness Neonatal hypotonia Anteverted nares Diffuse demyelination of the cerebral white matter Microcoria Periorbital edema Mucopolysacchariduria Recurrent singultus Abnormality of cardiovascular system morphology Retrognathia Hyperactivity Posteriorly rotated ears Abnormal heart morphology Patent ductus arteriosus Hypospadias Obesity Thrombocytopenia Atrial septal defect Hypoplastic vertebral bodies Hypoplasia of the corpus callosum Ventricular septal defect Fever Anemia Cleft palate Rapid neurologic deterioration Urinary glycosaminoglycan excretion Retrocerebellar cyst Hyperpigmented nevi Progressive macrocephaly Aggressive behavior Weight loss Hypotension Sudden cardiac death Tetraplegia Sleep disturbance Abnormality of eye movement Cough Hyperlordosis Facial palsy Respiratory failure Clonus Diabetes mellitus Hyperhidrosis Constipation Hyporeflexia Vomiting Respiratory insufficiency Hypertension Ptosis Diplopia Muscle stiffness Pseudobulbar signs Progressive spasticity Large face Hypersomnia Aqueductal stenosis Hypothermia Megalencephaly Poor coordination Drowsiness Atrophy/Degeneration affecting the brainstem Dysphasia Abnormal autonomic nervous system physiology Emotional lability Oral-pharyngeal dysphagia Self-injurious behavior Precocious puberty Encephalitis Dysphonia Sleep apnea Leukoencephalopathy Conductive hearing impairment Abnormality of the pinna Talipes equinovarus Seborrheic dermatitis Impaired T cell function Right aortic arch Mood swings Platybasia Perimembranous ventricular septal defect Interrupted aortic arch Graves disease Aplasia of the uterus Juvenile rheumatoid arthritis Paranoia Pulmonary artery atresia Abnormality of the endocrine system Echolalia Truncus arteriosus Pierre-Robin sequence Meningocele Hearing abnormality Hypoparathyroidism Duodenal stenosis Retinal vascular tortuosity Posterior embryotoxon Right aortic arch with mirror image branching Myopia Epicanthus Pain Strabismus Hypertelorism Unilateral primary pulmonary dysgenesis Unilateral lung agenesis Sacral meningocele Congenital conductive hearing impairment Giant platelets Perineal fistula Vascular ring Central nervous system degeneration Arteria lusoria Aplasia of the thymus Psychotic episodes Conotruncal defect Velopharyngeal insufficiency Vitiligo Anal stenosis Blepharophimosis Renal agenesis Multicystic kidney dysplasia Hypocalcemia Renal dysplasia Open mouth Primary amenorrhea Low posterior hairline Tetralogy of Fallot Specific learning disability Underdeveloped nasal alae Purpura Vesicoureteral reflux Bifid uvula Hemolytic anemia Bulbous nose Anal atresia Pulmonic stenosis Congenital cataract Autoimmunity Narrow palpebral fissure Holoprosencephaly Autoimmune thrombocytopenia Acne Submucous cleft hard palate Axonal loss Autoimmune hemolytic anemia Basal ganglia calcification Abnormality of the ear Myopathic facies Inflammation of the large intestine Hypoplasia of the brainstem Unilateral renal agenesis Bicuspid aortic valve Obsessive-compulsive behavior Psoriasiform dermatitis Rheumatoid arthritis Dysdiadochokinesis Cholelithiasis Nasal speech Abnormality of the hand Schizophrenia Yellow-brown discoloration of the teeth


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Congestive heart failure and Pneumonia, related diseases and genetic alterations Fever and Diabetes mellitus, related diseases and genetic alterations