Hydrocephalus, and Cerebral calcification

Diseases related with Hydrocephalus and Cerebral calcification

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

Top matches:

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

Medium match FRIED SYNDROME

Fried syndrome is a rare X-linked mental retardation (XLMR) syndrome characterized by psychomotor delay, intellectual deficit, hydrocephalus, and mild facial anomalies.

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Scoliosis
  • Muscular hypotonia
  • High palate


SOURCES: ORPHANET MENDELIAN

More info about FRIED SYNDROME

Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A) is an autosomal recessive disorder with characteristic brain and eye malformations, profound mental retardation, and congenital muscular dystrophy. The phenotype includes the alternative clinical designation Walker-Warburg syndrome (WWS), which is associated with death in infancy. The disorder represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1), collectively known as 'dystroglycanopathies' (summary by Geis et al., 2013 and Riemersma et al., 2015).For a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 (OMIM ).

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9; MDDGA9 Is also known as walker-warburg syndrome or muscle-eye brain disease, dag1-related

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Muscular hypotonia
  • Cataract


SOURCES: OMIM MENDELIAN

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9; MDDGA9

Other less relevant matches:

Medium match NASU-HAKOLA DISEASE

Nasu-Hakola disease (NHD), also referred to as polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL), is a rare inherited leukodystrophy characterized by progressive presenile dementia associated with recurrent bone fractures due to polycystic osseous lesions of the lower and upper extremities.

NASU-HAKOLA DISEASE Is also known as plosl|dementia, prefrontal, with bone cysts|plo-sl|dementia, progressive, with lipomembranous polycystic osteodysplasia|nasu-hakola disease|polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy|brain-bone-fat disease|nhd|presenile d

Related symptoms:

  • Seizures
  • Pain
  • Spasticity
  • Gait disturbance
  • Ventriculomegaly


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about NASU-HAKOLA DISEASE

Early infantile epileptic encephalopathy-49 is a severe autosomal recessive neurologic disorder characterized by onset of seizures in the neonatal period, global developmental delay with intellectual disability and lack of speech, hypotonia, spasticity, and coarse facial features. Some patients may have brain calcifications on imaging (summary by Han et al., 2016).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, 49; EIEE49

Medium match GORLIN SYNDROME

Gorlin syndrome (GS) is a genodermatosis characterized by multiple early-onset basal cell carcinoma (BCC), odontogenic keratocysts and skeletal abnormalities.

GORLIN SYNDROME Is also known as nbccs|basal cell nevus syndrome|nevoid basal cell carcinoma syndrome|gorlin-goltz syndrome

Related symptoms:

  • Intellectual disability
  • Scoliosis
  • Hypertelorism
  • Neoplasm
  • Strabismus


SOURCES: ORPHANET MENDELIAN

More info about GORLIN SYNDROME

Medium match FOWLER SYNDROME

The proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome is a rare, autosomal recessive, usually prenatally lethal disorder characterized by hydranencephaly, a distinctive glomerular vasculopathy in the central nervous system and retina, and diffuse ischemic lesions of the brain stem, basal ganglia, and spinal cord with calcifications. It is usually diagnosed by ultrasound between 26 and 33 weeks' gestation (summary by Meyer et al., 2010). Rarely, affected individuals may survive, but are severely impaired with almost no neurologic development (Kvarnung et al., 2016).

FOWLER SYNDROME Is also known as epv|cerebral proliferative glomeruloid vasculopathy|fowler syndrome|proliferative vasculopathy and hydranencephaly/hydrocephaly|hydranencephaly, fowler type|hydrocephaly/hydranencephaly due to cerebral vasculopathy|encephaloclastic proliferative vasculopa

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Growth delay


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about FOWLER SYNDROME

X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures (XDIBS), or Pettigrew syndrome is a central nervous system malformation characterized by severe intellectual deficit, early hypotonia with progression to spasticity and contractures, choreoathetosis, seizures, dysmorphic face (long face with prominent forehead), and brain imaging abnormalities such as Dandy-Walker malformation (see this term), and iron deposition.

X-LINKED INTELLECTUAL DISABILITY-DANDY-WALKER MALFORMATION-BASAL GANGLIA DISEASE-SEIZURES SYNDROME Is also known as mental retardation, x-linked, with dandy-walker malformation, basal ganglia disease, and seizures|mrxs21|mrx59|mental retardation, x-linked 59|mrxs5|mental retardation, x-linked, syndromic, fried type|mrxsf|mental retardation, x-linked, syndromic 21|menta

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY-DANDY-WALKER MALFORMATION-BASAL GANGLIA DISEASE-SEIZURES SYNDROME

Sturge-Weber syndrome (SWS) is a rare congenital neurocutaneous disorder characterized by facial capillary malformations and/or cerebral and ocular ipsilateral vascular malformations that result in variable degrees of ocular and neurological anomalies.

STURGE-WEBER SYNDROME Is also known as sws|sturge-weber-dimitri syndrome|sturge-weber-krabbe angiomatosis|encephalofacial angiomatosis|sturge-weber-krabbe syndrome|encephalotrigeminal angiomatosis

Related symptoms:

  • Intellectual disability
  • Seizures
  • Strabismus
  • Hyperreflexia
  • Macrocephaly


SOURCES: ORPHANET MENDELIAN

More info about STURGE-WEBER SYNDROME

Top 5 symptoms//phenotypes associated to Hydrocephalus and Cerebral calcification

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Ventriculomegaly Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Macrocephaly Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Generalized hypotonia Hyperreflexia Cerebral cortical atrophy Scoliosis Strabismus Dandy-Walker malformation Aggressive behavior Coarse facial features Muscular hypotonia Glaucoma Spasticity

Rare Symptoms - Less than 30% cases

Frontal bossing EEG abnormality Iris coloboma Myoclonus Limitation of joint mobility Microcephaly Absent speech Dilatation Cerebellar hypoplasia Optic atrophy Intellectual disability, severe Hypoplasia of the corpus callosum Behavioral abnormality Cataract Mandibular prognathia Basal ganglia calcification Dementia Prominent nose Holoprosencephaly Skeletal muscle atrophy Gait disturbance Macrotia Lissencephaly Autistic behavior Neurological speech impairment Short philtrum Irritability Long face Cryptorchidism Flexion contracture Low-set ears Visual impairment Intrauterine growth retardation Hyperostosis Abnormality of metabolism/homeostasis Micrognathia Agenesis of corpus callosum Polyhydramnios Arthrogryposis multiplex congenita Premature birth Decreased fetal movement Hypsarrhythmia Cleft palate Hemivertebrae Growth delay Visceral angiomatosis Hypertelorism Neoplasm Conjunctival telangiectasia Epicanthus Brachydactyly Wide nasal bridge Brachycephaly Telecanthus Carious teeth Plantar pits Arachnodactyly Hypogonadotrophic hypogonadism Pterygium Melanocytic nevus Vertebral fusion Abnormality of the neck Abnormality of the sense of smell Vertebral wedging Palmar pits Microretrognathia Severe hydrocephalus Akinesia Abnormality of the cerebral vasculature High-frequency hearing impairment Abnormality of the basal ganglia Dysphagia Hemianopia Blindness Abnormality of the eye Attention deficit hyperactivity disorder Abnormality of the retinal vasculature Stroke Heterochromia iridis Self-injurious behavior Abnormality of eye movement Retinal detachment Gingival overgrowth Venous thrombosis Corneal dystrophy Arnold-Chiari malformation Capillary hemangioma Hearing abnormality Abnormality of vision Aplasia/Hypoplasia of the cerebellum Pointed chin Hypoplasia of the brainstem Prominent forehead Cystic hygroma Fetal akinesia sequence Hydranencephaly Limb joint contracture Multiple pterygia Pulmonary embolism Sensorineural hearing impairment Motor delay Inguinal hernia Thick upper lip vermilion Narrow face Gait ataxia High forehead Difficulty walking Deeply set eye Protruding ear Wide mouth Thick vermilion border Neurodegeneration Choreoathetosis Fusion of the left and right thalami Abnormal adipose tissue morphology Long eyelashes Poor head control Muscular dystrophy Abnormality of the cerebral white matter Polymicrogyria Retinal dystrophy High myopia Intellectual disability, profound Cerebellar vermis hypoplasia Leukodystrophy Congenital muscular dystrophy Respiratory failure Buphthalmos Cerebellar cyst Agyria Pain Edema Cerebral atrophy Babinski sign Skeletal dysplasia Arthralgia Corneal opacity Elevated serum creatine phosphokinase Leukemia Malignant neoplasm of the central nervous system Muscle weakness Nausea and vomiting Migraine Cranial nerve paralysis Cerebral palsy Apathy Hemiplegia/hemiparesis Reduced consciousness/confusion Hearing impairment Microphthalmia High palate Intellectual disability, moderate Poor speech Abnormal cerebellum morphology Spastic diplegia Thickened calvaria Abnormality of the optic nerve Myopia Myopathy Developmental regression Abnormality of the foot Open mouth Hypertonia Abnormal upper motor neuron morphology Agnosia Frontal lobe dementia Functional abnormality of the gastrointestinal tract Caudate atrophy Ataxia Lack of insight Euphoria Encephalopathy Primitive reflex Hyperactivity Anxiety Muscular hypotonia of the trunk Severe global developmental delay Everted lower lip vermilion Tetraplegia Epileptic encephalopathy Hypotelorism Spastic tetraplegia Inappropriate behavior Bone cyst Abnormality of movement Leukoencephalopathy Gliosis Chorea Urinary incontinence Memory impairment Peripheral demyelination Apraxia Abnormality of epiphysis morphology Bone pain Oculomotor apraxia Reduced bone mineral density Disinhibition Abnormality of the hand Personality changes Alzheimer disease Pathologic fracture Axonal loss Neurofibrillary tangles Acute leukemia Senile plaques Cerebral edema Abnormal choroid morphology


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