Hydrocephalus, and Abnormality of eye movement

Diseases related with Hydrocephalus and Abnormality of eye movement

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


Top matches:

Low match NEPHRONOPHTHISIS 18; NPHP18


Nephronophthisis-18 is an autosomal recessive disorder characterized by chronic tubulointerstitial nephritis resulting in end-stage renal disease in early childhood. Extrarenal manifestations, including intellectual disability or liver changes, may occur in some patients (summary by Failler et al., 2014).For a general phenotypic description and a discussion of genetic heterogeneity of nephronophthisis, see NPHP1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Strabismus
  • Delayed speech and language development
  • Hypertension
  • Hydrocephalus


SOURCES: OMIM MENDELIAN

More info about NEPHRONOPHTHISIS 18; NPHP18

Low match JOUBERT SYNDROME 9; JBTS9


Related symptoms:

  • Intellectual disability
  • Seizures
  • Nystagmus
  • Abnormal facial shape
  • Cataract


SOURCES: OMIM MENDELIAN

More info about JOUBERT SYNDROME 9; JBTS9

Low match SCHIZENCEPHALY


Brunelli et al. (1996) described schizencephaly as an extremely rare congenital disorder characterized by a full-thickness cleft within the cerebral hemispheres. The clefts are lined with gray matter and most commonly involve the parasylvian regions (Wolpert and Barnes, 1992). Large portions of the cerebral hemispheres may be absent and replaced by cerebrospinal fluid. Two types of schizencephaly have been described, depending on the size of the area involved and the separation of the cleft lips (Wolpert and Barnes, 1992). Type I schizencephaly consists of a fused cleft. This fused pial-ependymal seam forms a furrow in the developing brain, and is lined by polymicrogyric gray matter. In type II schizencephaly, there is a large defect, a holohemispheric cleft in the cerebral cortex filled with fluid and lined by polymicrogyric gray matter. The clinical manifestations depend on the severity of the lesion. Patients with type I are often almost normal; they may have seizures and spasticity. In type II abnormalities, there is usually mental retardation, seizures, hypotonia, spasticity, inability to walk or speak, and blindness.Schizencephaly may be part of the larger phenotypic spectrum of holoprosencephaly (HPE; see {236100}).

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about SCHIZENCEPHALY

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Other less relevant matches:

Low match ARNOLD-CHIARI MALFORMATION TYPE II


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

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 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

Low match MASA SYNDROME


MASA syndrome (Mental retardation, Aphasia, Spastic paraplegia, Adducted thumbs) 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). MASA is characterized by mild to moderate intellectual deficit, delayed development of speech, hypotonia progressing to spasticity or spastic paraplegia, adducted thumbs, and mild to moderate distension of the cerebral ventricles.

MASA SYNDROME Is also known as spastic paraplegia 1, x-linked|thumb, congenital clasped, with mental retardation|gareis-mason syndrome|intellectual disability-aphasia-shuffling gait-adducted thumbs syndrome|clasped thumb and mental retardation|spg1|mental retardation, aphasia, shufflin

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about MASA SYNDROME

Low match INTELLECTUAL DISABILITY-MACROCEPHALY-HYPOTONIA-BEHAVIORAL ABNORMALITIES SYNDROME


Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about INTELLECTUAL DISABILITY-MACROCEPHALY-HYPOTONIA-BEHAVIORAL ABNORMALITIES SYNDROME

Low match MECKEL SYNDROME, TYPE 10; MKS10


Related symptoms:

  • Seizures
  • Hearing impairment
  • Cleft palate
  • Ptosis
  • Epicanthus


SOURCES: OMIM MENDELIAN

More info about MECKEL SYNDROME, TYPE 10; MKS10

Low match HOLOPROSENCEPHALY 5; HPE5


Holoprosencephaly associated with mutations in the ZIC2 gene.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Hypertelorism
  • Abnormal facial shape


SOURCES: OMIM MESH MENDELIAN

More info about HOLOPROSENCEPHALY 5; HPE5

Top 5 symptoms//phenotypes associated to Hydrocephalus and Abnormality of eye movement

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

Patients with Hydrocephalus and Abnormality of eye movement. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Agenesis of corpus callosum Ventriculomegaly Spasticity Macrocephaly Microcephaly Holoprosencephaly Nystagmus Abnormal facial shape Paralysis

Rare Symptoms - Less than 30% cases


Hemiplegia/hemiparesis Spastic paraparesis Paraparesis Hemiparesis Ataxia Headache Exotropia Heterotopia Intellectual disability, severe Ptosis Cleft palate Narrow forehead Frontal bossing Paraplegia Abnormal pyramidal sign Spastic paraplegia Hypertelorism Aphasia Aqueductal stenosis Cognitive impairment Hyperreflexia Adducted thumb Dilatation Molar tooth sign on MRI Coloboma Astigmatism Encephalocele Cataract Blindness Delayed speech and language development Proboscis Muscle stiffness Abnormality of the nervous system Trigonocephaly Hyperlordosis Camptodactyly of finger Lumbar hyperlordosis Interphalangeal joint contracture of finger Hyperactive deep tendon reflexes Progressive spasticity Babinski sign Down-sloping shoulders Shuffling gait Hand clenching Severe hydrocephalus Deep philtrum Myopia Downslanted palpebral fissures Pes cavus Clinodactyly of the 5th finger Absent septum pellucidum Abnormality of digit Cyclopia Renal cell carcinoma Single median maxillary incisor Clear cell renal cell carcinoma Scaphocephaly Facial cleft Flexion contracture of thumb Corticospinal tract hypoplasia Small posterior fossa Noncommunicating hydrocephalus Short stature Scoliosis Absent thumb Gait disturbance Hypotelorism Intellectual disability, mild Kyphosis Talipes equinovarus Hypoglycemia Diarrhea Sacral dimple Micropenis Retrognathia Abnormality of the pinna Postaxial polydactyly Renal cyst Broad forehead Macrotia Narrow palpebral fissure Occipital encephalocele Patent ductus arteriosus Anencephaly High palate Depressed nasal bridge Upslanted palpebral fissure Abnormality of the skeletal system Anteverted nares Short nose Microphthalmia Polydactyly Hypospadias Absent speech Congenital hip dislocation Midface retrusion Deeply set eye Hip dislocation Poor speech Overgrowth Microcornea Open mouth Chronic diarrhea Torticollis Hypermetropia Tented upper lip vermilion Oral cleft Pyloric stenosis Facial hypotonia Congenital muscular torticollis Increased head circumference Hearing impairment Synophrys Epicanthus Normal pressure hydrocephalus Increased intracranial pressure Cyanosis Aplasia/Hypoplasia of the corpus callosum Porencephalic cyst Schizencephaly Muscular hypotonia Feeding difficulties Dysphagia Apnea Limb muscle weakness Spina bifida Tetraplegia Arnold-Chiari malformation Stridor Opisthotonus Partial agenesis of the corpus callosum Weak cry Syringomyelia Myelomeningocele Bulbar signs Inspiratory stridor Spastic tetraplegia Inability to walk Occipital neuralgia Thickening of the glomerular basement membrane Hypertension Stage 5 chronic kidney disease Cholestasis Nephritis Nephronophthisis Tubulointerstitial nephritis Tubular atrophy Portal fibrosis Chronic tubulointerstitial nephritis EEG abnormality Rod-cone dystrophy Hepatosplenomegaly Intellectual disability, moderate Abnormality of the eye Retinal dystrophy Cerebellar vermis hypoplasia Hepatic fibrosis Cerebral cortical atrophy Cervical myelopathy Visual impairment Joint stiffness Delusions Truncal ataxia Language impairment Apathy Personality changes Blurred vision Visual field defect Muscle fibrillation Increased CSF protein Visual hallucinations Hallucinations Supranuclear gaze palsy Dysesthesia Loss of facial expression Extrapyramidal muscular rigidity Hirano bodies Neoplasm Flexion contracture Coarse facial features Carcinoma Cerebral visual impairment Choreoathetosis Peripheral neuropathy Reduced visual acuity Tremor Myopathy Behavioral abnormality Recurrent infections Depressivity Encephalopathy Dementia Myoclonus Gait ataxia Rigidity Neuronal loss in central nervous system Anxiety Mental deterioration Irritability Confusion Unsteady gait Neurodegeneration Abnormal cerebellum morphology Gliosis Memory impairment Exencephaly



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