Hydrocephalus, and Psychosis

Diseases related with Hydrocephalus and Psychosis

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

Top matches:

Macrocephaly refers to an abnormally enlarged head inclusive of the scalp, cranial bones, and intracranial contents. Macrocephaly may be due to megalencephaly (true enlargement of the brain parenchyma), and the 2 terms are often used interchangeably in the genetic literature (reviews by Olney, 2007 and Williams et al., 2008). Autosomal recessive macrocephaly/megalencephaly syndrome is characterized by an enlarged cranium apparent at birth or in early childhood. Affected individuals have intellectual disability and may have dysmorphic facial features resulting from the macrocephaly (summary by Alfaiz et al., 2014).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Abnormal facial shape
  • Cognitive impairment


SOURCES: MESH OMIM MENDELIAN

More info about MACROCEPHALY/MEGALENCEPHALY SYNDROME, AUTOSOMAL RECESSIVE; MGCPH

Medium match HARTNUP DISEASE

Hartnup disease is a rare metabolic disorder belonging to the neutral aminoacidurias and characterized by abnormal renal and gastrointestinal transport of neutral amino acids (tryptophan, alanine, asparagine, glutamine, histidine, isoleucine, leucine, phenylalanine, serine, threonine, tyrosine and valine).

HARTNUP DISEASE Is also known as aminoaciduria, hartnup type|hartnup disease|hartnup disorder

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about HARTNUP DISEASE

Combined methylmalonic aciduria (MMA) and homocystinuria is a genetically heterogeneous disorder of cobalamin (cbl; vitamin B12) metabolism. The defect causes decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl), which results in decreased activity of the respective enzymes methylmalonyl-CoA mutase (MUT ) and methyltetrahydrofolate:homocysteine methyltransferase, also known as methionine synthase (MTR ). Different forms of the disorder have been classified according to complementation groups of cells in vitro: cblC, cblD (OMIM ), cblF (OMIM ), and cblJ (OMIM ).Isolated methylmalonic acidurias have also been classified by complementation groups: MMA 'mut' (OMIM ) is caused by mutation in the MUT gene on chromosome 6p21; MMA cblA (OMIM ) is caused by mutation in the MMAA gene (OMIM ) on 4q31; and MMA cblB (OMIM ) is caused by mutation in the MMAB gene (OMIM ) on 12q24.Methylmalonic aciduria and homocystinuria, cblC type, is the most common inborn error of vitamin B12 (cobalamin) metabolism, with about 250 known cases (Lerner-Ellis et al., 2006). Affected individuals may have developmental, hematologic, neurologic, metabolic, ophthalmologic, and dermatologic clinical findings. Although considered a disease of infancy or childhood, some individuals develop symptoms in adulthood (Rosenblatt et al., 1997).

METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE; MAHCC Is also known as vitamin b12 metabolic defect with combined deficiency of methylmalonyl-coa mutase and homocysteine:methyltetrahydrofolate methyltransferase|methylmalonic aciduria and homocystinuria, vitamin b12-responsive|methylmalonic acidemia and homocystinuria, cblc t

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE; MAHCC

Other less relevant matches:

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

Coffin-Lowry syndrome (CLS) is a rare genetic neurological disorder characterized by psychomotor and growth retardation, facial dysmorphism, digit abnormalities, and progressive skeletal changes.

COFFIN-LOWRY SYNDROME Is also known as cls

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about COFFIN-LOWRY SYNDROME

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

AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 9A Is also known as ad-spg9a|spastic paraparesis-amyopathy-cataracts-gastroesophageal reflux syndrome|cataracts-motor neuropathy-short stature-skeletal anomalies syndrome

Related symptoms:

  • Seizures
  • Sensorineural hearing impairment
  • Muscle weakness
  • Tremor
  • Babinski sign


SOURCES: ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 9A

Autosomal dominant cerebellar ataxia, deafness and narcolepsy (ADCA-DN) is a polymorphic disorder and a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by ataxia, sensorineural deafness and narcolepsy with cataplexy and dementia.

AUTOSOMAL DOMINANT CEREBELLAR ATAXIA-DEAFNESS-NARCOLEPSY SYNDROME Is also known as adca-dn syndrome

Related symptoms:

  • Hearing impairment
  • Ataxia
  • Nystagmus
  • Sensorineural hearing impairment
  • Cataract


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL DOMINANT CEREBELLAR ATAXIA-DEAFNESS-NARCOLEPSY SYNDROME

Bilateral striopallidodentate calcinosis (BSPDC, also erroneously called Fahr disease) is characterized by the accumulation of calcium deposits in different brain regions, particularly the basal ganglia and dentate nucleus, and is often associated with neurodegeneration.

BILATERAL STRIOPALLIDODENTATE CALCINOSIS Is also known as cerebrovascular ferrocalcinosis|primary familial brain calcification|ferrocalcinosis, cerebrovascular|pfbc|bspdc|striopallidodentate calcinosis, bilateral|cerebral calcification, nonarteriosclerotic, idiopathic, adult-onset|basal ganglia calcification, id

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about BILATERAL STRIOPALLIDODENTATE CALCINOSIS

Corpus callosum agenesis-neuronopathy syndrome is a neurodegenerative disorder characterized by severe progressive sensorimotor neuropathy beginning in infancy with resulting hypotonia, areflexia, amyotrophy and variable degrees of dysgenesis of the corpus callosum. Additional features include mild-to-severe intellectual and developmental delays, and psychiatric manifestations that include paranoid delusions, depression, hallucinations, and "autistic-like" features. Affected individuals are usually wheelchair restricted in the second decade of life and die in the third decade of life. The disease is inherited as an autosomal recessive trait.

CORPUS CALLOSUM AGENESIS-NEURONOPATHY SYNDROME Is also known as andermann syndrome|charlevoix disease|polyneuropathy, sensorimotor, with or without agenesis of the corpus callosum|corpus callosum, agenesis of, with neuronopathy

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about CORPUS CALLOSUM AGENESIS-NEURONOPATHY SYNDROME

Top 5 symptoms//phenotypes associated to Hydrocephalus and Psychosis

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Depressivity Common - Between 50% and 80% cases
Tremor Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Cognitive impairment

Uncommon Symptoms - Between 30% and 50% cases

Generalized hypotonia

Common Symptoms - More than 50% cases

Mental deterioration

Uncommon Symptoms - Between 30% and 50% cases

Nystagmus Intellectual disability, severe Cataract Abnormal facial shape Muscle weakness Dementia Muscular hypotonia Optic atrophy Microcephaly Hearing impairment Ataxia Strabismus Urinary incontinence Memory impairment Sensorineural hearing impairment Scoliosis Gait disturbance Macrotia Gait ataxia Ventriculomegaly Abnormality of the cerebral white matter Hyperreflexia Thrombocytopenia Growth delay Arthritis Abnormality of retinal pigmentation Congenital cataract Hallucinations High palate Cerebellar atrophy Inguinal hernia Dysmetria Schizophrenia Hypertelorism Peripheral neuropathy Skeletal muscle atrophy Neurological speech impairment Motor delay Babinski sign Delusions Intellectual disability, mild Short stature Delayed speech and language development Mandibular prognathia Dysarthria Myopia Confusion Anxiety Coarse facial features Spasticity Macrocephaly

Rare Symptoms - Less than 30% cases

Broad forehead Abnormality of the skeletal system Frontal bossing Epicanthus Open mouth Depressed nasal bridge Mood swings Bipolar affective disorder Basal ganglia calcification Kyphosis Delayed skeletal maturation Dysdiadochokinesis Umbilical hernia Peripheral demyelination Chorea Patellar dislocation Hernia Recurrent infections Immunodeficiency Behavioral abnormality Hypoplasia of the corpus callosum Short neck Myelopathy Apathy Slurred speech Broad-based gait Pancytopenia Abnormality of extrapyramidal motor function Kyphoscoliosis Unsteady gait Pectus carinatum Cerebral atrophy Neuronal loss in central nervous system Polyneuropathy Sensory neuropathy Abnormal cerebellum morphology Postural instability Abnormal pyramidal sign Low anterior hairline Spastic gait Progressive neurologic deterioration Gliosis Progressive cerebellar ataxia Corneal opacity Respiratory tract infection Areflexia Hepatomegaly Thick eyebrow Pain Cataplexy Craniofacial hyperostosis Severe sensorineural hearing impairment Thickened calvaria Abnormality of neuronal migration Prominent supraorbital ridges Widely spaced teeth Narrow palate Mitral regurgitation Dental malocclusion Tetraplegia Vertigo Highly arched eyebrow Tapered finger Hypoplasia of the maxilla Feeding difficulties in infancy Retinal degeneration Anemia Hypertension Fever EEG abnormality Congestive heart failure Ptosis Headache Hypertonia Cerebral cortical atrophy Emotional lability Hepatic steatosis Malabsorption Feeding difficulties Aciduria Hemolytic anemia Long face Methylmalonic aciduria Joint hypermobility Hypoplastic inferior ilia Abnormality of the sternum Femoral bowing Neurodevelopmental delay Bowel incontinence Open bite Abnormality of the ilium Increased vertebral height Bronchitis Abnormality of joint mobility Flat occiput Heart murmur Chronic otitis media Increased intracranial pressure Antineutrophil antibody positivity Recurrent bacterial infections Inflammatory abnormality of the skin Chronic diarrhea Abnormality of dental structure Bowing of the legs Decreased pulmonary function Limb dystonia Abnormal echocardiogram Spondylolysis Oligosacchariduria Synostosis of joints Cerebral dysmyelination Retinal thinning Long ear Abnormality of the gingiva Cranial hyperostosis Vacuolated lymphocytes Thoracolumbar kyphosis Synovitis Increased hepatic glycogen content Abnormal cornea morphology Abnormality of the rib cage Generalized abnormality of skin Limb ataxia Abnormality of the helix Reduced ejection fraction Hydrocele testis Dysostosis multiplex Impaired smooth pursuit Aseptic necrosis Spondylolisthesis Metabolic acidosis Gingival overgrowth Bifid sternum Malar flattening Splenomegaly Abnormality of the dentition Myopathy Talipes equinovarus Gingivitis Bruxism Episodic ataxia Drumstick terminal phalanges Abnormality of the nasal alae Thick nasal septum Uterine prolapse Irregular hyperpigmentation Lumbar kyphosis Retinoschisis Pseudoepiphyses of the metacarpals Stooped posture Hyperconvex fingernails Abnormal tricuspid valve morphology Broad finger Narrow iliac wings Thick nasal alae Abnormal diaphysis morphology Premature loss of primary teeth Midface retrusion Insomnia Amblyopia Delayed myelination Tall stature Bowing of the long bones Synovial hypertrophy Diplopia Hypertrichosis Depressed nasal ridge Type II diabetes mellitus Optic disc pallor Hip dysplasia Otitis media Decreased antibody level in blood Aminoaciduria Recurrent respiratory infections Hypopigmented skin patches Macroglossia Neurodegeneration Genu valgum Abnormality of the foot Hypermetropia Abnormality of vision Encephalitis Hepatosplenomegaly Skeletal dysplasia Osteopenia Prominent forehead Progressive joint destruction Falls Flattened moderately deformed vertebrae Calcification of the small brain vessels Limb muscle weakness Craniosynostosis Developmental regression Facial palsy Neonatal hypotonia Brachycephaly Agenesis of corpus callosum Short nose Wide nasal bridge Flexion contracture Dense calcifications in the cerebellar dentate nucleus Pill-rolling tremor Peripheral axonal neuropathy Progressive choreoathetosis Micrographia Focal motor seizures Limb dysmetria Subcutaneous hemorrhage Alcoholism Pseudohypoparathyroidism Orofacial dyskinesia Focal dystonia Calcinosis Abnormal lower motor neuron morphology Facial asymmetry Inability to walk Frontotemporal dementia Increased CSF protein Decreased sensory nerve conduction velocity Limb tremor Axonal degeneration/regeneration Diffuse white matter abnormalities EMG: chronic denervation signs Progressive peripheral neuropathy Motor polyneuropathy Restrictive deficit on pulmonary function testing Aqueductal stenosis Demyelinating peripheral neuropathy Facial diplegia Turricephaly Esotropia Onion bulb formation Partial agenesis of the corpus callosum Infantile spasms 2-3 toe syndactyly Decreased motor nerve conduction velocity Hemiplegia/hemiparesis Decreased nerve conduction velocity CNS hypomyelination Paraparesis Sensorimotor neuropathy Spastic tetraplegia Narrow forehead Lewy bodies Progressive encephalopathy Spinocerebellar tract disease in lower limbs Lower limb pain Lymphedema Cirrhosis Migraine Abnormality of the nervous system Diabetes mellitus Abnormality of pain sensation Abnormality of the dorsal column of the spinal cord Hyperreflexia in upper limbs Anarthria Pollakisuria Lower limb hypertonia Low back pain Resting tremor Spastic dysarthria Corpus callosum atrophy Enlarged cisterna magna Impaired vibration sensation in the lower limbs Lower limb hyperreflexia Urinary urgency Horizontal nystagmus Muscle cramps Abnormal blistering of the skin Hyperextensibility of the finger joints Cutaneous photosensitivity Pes cavus Abnormality of mitochondrial metabolism Atrophy/Degeneration affecting the brainstem Mask-like facies Paralysis Athetosis Oral-pharyngeal dysphagia Muscle stiffness Clumsiness Choreoathetosis Bradykinesia Cerebral calcification Parkinsonism Dyskinesia Abnormality of movement Abnormality of the liver Rigidity Head tremor Encephalopathy Dystonia Dysphagia Fatigue Intrauterine growth retardation Dilated third ventricle Predominantly lower limb lymphedema Pseudobulbar signs Narcolepsy Excessive daytime sleepiness Abnormality of the cerebrospinal fluid Primitive reflex Rectal prolapse Soft skin Advanced eruption of teeth Bifid uvula Renal dysplasia Diarrhea Primary amenorrhea Low posterior hairline Tetralogy of Fallot Difficulty walking Amenorrhea Specific learning disability Renal agenesis Underdeveloped nasal alae Vesicoureteral reflux Bulbous nose Hypocalcemia Scaphocephaly Anal atresia Pulmonic stenosis Autoimmunity Blepharophimosis Abnormality of the pinna Aggressive behavior Conductive hearing impairment Proteinuria Retrognathia Hypothyroidism Spina bifida Multicystic kidney dysplasia Posteriorly rotated ears Unilateral renal agenesis Anal stenosis Autoimmune thrombocytopenia Submucous cleft hard palate Axonal loss Autoimmune hemolytic anemia Acidosis Abnormality of the ear Myopathic facies Inflammation of the large intestine Hypoplasia of the brainstem Acne Obsessive-compulsive behavior Narrow palpebral fissure Psoriasiform dermatitis Rheumatoid arthritis High forehead Cholelithiasis Nasal speech Abnormality of the hand Abnormality of the musculature Arnold-Chiari malformation Bicuspid aortic valve Holoprosencephaly Purpura Hyperactivity Abnormal heart morphology Reduced visual acuity Thromboembolism Abnormality of macular pigmentation Chronic hemolytic anemia Methylmalonic acidemia Atrophy of the spinal cord Hemolytic-uremic syndrome Right ventricular failure Gastritis Paresthesia Homocystinuria Cor pulmonale Megaloblastic anemia Disproportionate tall stature Urogenital fistula Ectopia lentis Hemiplegia Abnormality of skin pigmentation Atherosclerosis Adrenal medullary hypoplasia Anorexia Recurrent urinary tract infections Pulmonary arterial hypertension Pigmentary retinopathy Nephropathy Hematuria Delirium Decreased methylcobalamin Patent ductus arteriosus Ventricular septal defect Hypospadias Obesity Retinopathy Absent speech Abnormality of cardiovascular system morphology Hip dislocation Lethargy Megalencephaly Atrial septal defect Lower limb muscle weakness Smooth philtrum Patellar subluxation Hyperhomocystinemia Cleft palate Cortical tubers Thyroglossal cyst Cystathioninemia Diffuse hepatic steatosis Decreased methylmalonyl-CoA mutase activity Hypomethioninemia Cystathioninuria Vitamin B12 deficiency Decreased methionine synthase activity Decreased adenosylcobalamin Posterior embryotoxon Vitiligo Abnormal aortic valve morphology Cerebellar vermis hypoplasia Aplasia/Hypoplasia of the corpus callosum Glabellar reflex Cutis laxa Grasp reflex Coxa valga Abnormality of the hair Wide anterior fontanel Decreased body weight Neutral hyperaminoaciduria Abnormal form of the vertebral bodies Thick lower lip vermilion Skin rash Coarse hair Short metacarpal Abnormality of the eye Failure to thrive Hypodontia Delayed eruption of teeth Single transverse palmar crease Photophobia Everted lower lip vermilion Thick vermilion border Wide nose Short distal phalanx of finger Sleep apnea Redundant skin Joint hyperflexibility Glossitis Delayed closure of the anterior fontanelle Abnormal urinary color Abnormal mitral valve morphology Restrictive cardiomyopathy Hypoplastic fingernail Acrocyanosis Neutropenia Mood changes Spinal canal stenosis Anteriorly placed anus Atonic seizures Broad palm Hyperphenylalaninemia Abnormality of digit Progressive spasticity Broad hallux Loss of consciousness Emphysema Neural tube defect Cutis marmorata Large hands Aplasia/Hypoplasia of the cerebellum Abnormality of dental morphology Self-injurious behavior Low-set ears Dilated cardiomyopathy Hypoparathyroidism Interrupted aortic arch Conotruncal defect Velopharyngeal insufficiency Giant platelets Retinal vascular tortuosity Paranoia Duodenal stenosis Impaired T cell function Right aortic arch Weight loss Platybasia Perimembranous ventricular septal defect Graves disease Aplasia of the thymus Aplasia of the uterus Seborrheic dermatitis Juvenile rheumatoid arthritis Pulmonary artery atresia Abnormality of the endocrine system Echolalia Myelomeningocele Truncus arteriosus Pierre-Robin sequence Meningocele Hearing abnormality Psychotic episodes Arteria lusoria Severe global developmental delay Renal insufficiency Wide mouth Protruding ear Hyperlordosis Telecanthus Pes planus Visual impairment Pectus excavatum Respiratory insufficiency Gastroesophageal reflux Cardiomyopathy Anteverted nares Downslanted palpebral fissures Central nervous system degeneration Dolichocephaly Brachydactyly Astigmatism Pointed chin Celiac disease Unilateral primary pulmonary dysgenesis Unilateral lung agenesis Sacral meningocele Right aortic arch with mirror image branching Congenital conductive hearing impairment Perineal fistula Vascular ring Abnormal anterior horn cell morphology


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