Cognitive impairment, and Hydrocephalus

Diseases related with Cognitive impairment and Hydrocephalus

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


Top matches:

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
  • Neoplasm
  • Cognitive impairment
  • Visual impairment
  • Hydrocephalus


SOURCES: ORPHANET MENDELIAN

More info about PAPILLOMA OF CHOROID PLEXUS

Low match MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 11; MDDGA11


Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A) is an autosomal recessive disorder with congenital muscular dystrophy resulting in muscle weakness early in life and brain and eye anomalies. It is usually associated with delayed psychomotor development and shortened life expectancy. The phenotype includes the alternative clinical designations Walker-Warburg syndrome (WWS) and muscle-eye-brain disease (MEB). 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 Stevens et al., 2013).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, 11; MDDGA11 Is also known as walker-warburg syndrome or muscle-eye-brain disease, b3galnt2-related

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Muscle weakness
  • Cataract
  • Spasticity


SOURCES: OMIM MENDELIAN

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 11; MDDGA11

Low match ISOLATED CLOVERLEAF SKULL SYNDROME


Isolated cloverleaf skull syndrome is a form of craniosynostosis involving multiple sutures (coronal, lambdoidal, sagittal and metopic ) characterized by a trilobular skull of varying severity (frontal towering and bossing, temporal bulging and a flat posterior skull), dysmorphic features (downslanting palpebral fissures, midface hypoplasia, and extreme proptosis) and that is complicated by hydrocephalus, cerebral venous hypertension, developmental delay/intellectual disability and hind brain herniation.

ISOLATED CLOVERLEAF SKULL SYNDROME Is also known as kleeblattschadel|cloverleaf skull

Related symptoms:

  • Cognitive impairment
  • Hydrocephalus
  • Malar flattening
  • Midface retrusion
  • Proptosis


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about ISOLATED CLOVERLEAF SKULL SYNDROME

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Other less relevant matches:

Low match HYDROCEPHALUS, CONGENITAL, 1; HYC1


Congenital hydrocephalus-1 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 HYC2 (OMIM ), caused by mutation in the MPDZ gene (OMIM ) on chromosome 9p23, and HYC3 (OMIM ), caused by mutation in the WDR81 gene (OMIM ) on chromosome 17p13.An X-linked form of congenital hydrocephalus (HSAS, HYCX; {307000}) is caused by mutation in the L1CAM gene on (OMIM ) on chromosome Xq28.

HYDROCEPHALUS, CONGENITAL, 1; HYC1 Is also known as hydrocephaly|hydrocephalus, nonsyndromic, autosomal recessive 1, formerly|ventriculomegaly

Related symptoms:

  • Intellectual disability
  • Seizures
  • Neoplasm
  • Macrocephaly
  • Ventriculomegaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about HYDROCEPHALUS, CONGENITAL, 1; HYC1

Low match COBBLESTONE LISSENCEPHALY WITHOUT MUSCULAR OR OCULAR INVOLVEMENT


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

Low match STURGE-WEBER SYNDROME; SWS


Sturge-Weber syndrome is characterized by an intracranial vascular anomaly, leptomeningeal angiomatosis, most often involving the occipital and posterior parietal lobes. The most common symptoms and signs are facial cutaneous vascular malformations (port-wine stains), seizures, and glaucoma. Stasis results in ischemia underlying the leptomeningeal angiomatosis, leading to calcification and laminar cortical necrosis. The clinical course is highly variable and some children experience intractable seizures, mental retardation, and recurrent stroke-like episodes (review by Thomas-Sohl et al., 2004).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Cognitive impairment


SOURCES: OMIM MENDELIAN

More info about STURGE-WEBER SYNDROME; SWS

Low match SPORADIC CREUTZFELDT-JAKOB DISEASE


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

Low match MACROCEPHALY/MEGALENCEPHALY SYNDROME, AUTOSOMAL RECESSIVE; MGCPH


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

Low match MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13; MDDGA13


Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A) is a autosomal recessive disorder associated with severe neurologic defects and resulting in early infantile death. The phenotype includes the alternative clinical designations Walker-Warburg syndrome (WWS) and muscle-eye-brain disease (MEB). 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 Buysse et al., 2013).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, 13; MDDGA13 Is also known as walker-warburg syndrome or muscle-eye-brain disease, b3gnt1-related

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Cryptorchidism
  • Spasticity


SOURCES: OMIM MENDELIAN

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13; MDDGA13

Low match HYDROCEPHALUS WITH STENOSIS OF THE AQUEDUCT OF SYLVIUS


Hydrocephalus with stenosis of the aqueduct of Sylvius (HSAS) is a historical term used to describe a phenotype now considered to be part of the X-linked L1 clinical spectrum (L1 syndrome, see this term). HSAS is characterized by severe hydrocephalus mostly with prenatal onset, signs of intracranial hypertension, adducted thumbs, spasticity, and severe intellectual deficit. HSAS represents the severe end of the spectrum and is associated with poor prognosis.

HYDROCEPHALUS WITH STENOSIS OF THE AQUEDUCT OF SYLVIUS Is also known as x-linked hydrocephalus|hsas1|hycx|aqueductal stenosis, x-linked|bickers-adams syndrome|x-linked acqueductal stenosis|xlas|hydrocephalus, x-linked|x-linked hydrocephalus with stenosis of aqueduct of sylvius|x-linked hsas|hsas

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about HYDROCEPHALUS WITH STENOSIS OF THE AQUEDUCT OF SYLVIUS

Top 5 symptoms//phenotypes associated to Cognitive impairment and Hydrocephalus

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Macrocephaly Uncommon - Between 30% and 50% cases
Blindness Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Mental deterioration Generalized hypotonia Polymicrogyria Spasticity Neoplasm Type II lissencephaly Lissencephaly Cerebellar hypoplasia Muscular dystrophy Cataract

Rare Symptoms - Less than 30% cases


Coarse facial features Depressivity Ventriculomegaly Intellectual disability, severe Agenesis of corpus callosum Headache Dilatation Behavioral abnormality Irritability Stroke Aqueductal stenosis Optic atrophy Normal pressure hydrocephalus Heterotopia Spastic paraplegia Abnormality of the cerebral white matter Paraplegia Occipital encephalocele Hemiparesis Abnormal cerebellum morphology Abnormal pyramidal sign Encephalocele Hypoplasia of the brainstem Neurodegeneration Arnold-Chiari malformation Elevated serum creatine phosphokinase Absent septum pellucidum Congenital muscular dystrophy Leukoencephalopathy Severe muscular hypotonia Visual impairment Myopia Hemiplegia/hemiparesis Renal cell carcinoma Delayed speech and language development Abnormal facial shape Mandibular prognathia Hirano bodies Delusions Extrapyramidal muscular rigidity Clear cell renal cell carcinoma Loss of facial expression Dysesthesia Supranuclear gaze palsy Visual hallucinations Flexion contracture of thumb Renal dysplasia Increased CSF protein Hallucinations Confusion Unsteady gait Gliosis Corticospinal tract hypoplasia Memory impairment Neuronal loss in central nervous system Choreoathetosis Cerebral visual impairment Adducted thumb Truncal ataxia Language impairment Apathy Personality changes Aphasia Blurred vision Visual field defect Muscle fibrillation Increased intracranial pressure Broad forehead Retinal dysplasia Flexion contracture Strabismus Nystagmus Hypoplasia of the corpus callosum Optic nerve dysplasia Renal cortical cysts Anencephaly Anxiety Cortical dysplasia Opacification of the corneal stroma Micropenis Hydronephrosis Renal cyst Dandy-Walker malformation Cryptorchidism Adrenal medullary hypoplasia Decreased testicular size Celiac disease Dolichocephaly Astigmatism Psychosis Holoprosencephaly Pointed chin Spastic paraparesis Abnormality of the musculature Carcinoma Paraparesis Scaphocephaly Patellar dislocation Joint stiffness Megalencephaly Patellar subluxation Cortical tubers Paralysis Cafe-au-lait spot Rigidity Craniofacial dysostosis Limitation of joint mobility Convex nasal ridge Abnormal form of the vertebral bodies Amniotic constriction ring Recurrent corneal erosions Cloverleaf skull Elbow ankylosis Craniosynostosis Vomiting Prominent forehead Spontaneous abortion Communicating hydrocephalus Dilated fourth ventricle Hydranencephaly Intraventricular hemorrhage Finger syndactyly Low-set, posteriorly rotated ears Muscular hypotonia Retinal detachment Hypertonia Abnormality of nervous system morphology Choroid plexus papilloma Muscle weakness Microphthalmia Muscular hypotonia of the trunk Optic nerve hypoplasia Skeletal dysplasia Hypoplasia of the pons Cerebellar dysplasia Cerebellar cyst Malar flattening Midface retrusion Proptosis High forehead Hearing impairment Gait disturbance Reduced visual acuity Peripheral neuropathy Buphthalmos Stroke-like episode Facial hemangioma Choroidal hemangioma Arachnoid hemangiomatosis Ataxia Hyperreflexia Nevus flammeus Tremor Myopathy Recurrent infections Encephalopathy Dementia Myoclonus Gait ataxia Abnormality of the vasculature Congenital glaucoma Severe global developmental delay Infantile spasms Coma Tetraplegia Spastic tetraplegia Progressive neurologic deterioration Absence seizures Hemiplegia Porencephalic cyst Hemangioma Gray matter heterotopias Right hemiplegia Microcephaly Cerebral cortical atrophy Glaucoma EEG abnormality Nevus Noncommunicating hydrocephalus



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