Hydrocephalus, and Abnormal pyramidal sign

Diseases related with Hydrocephalus and Abnormal pyramidal sign

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

Top matches:

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

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

Medium 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

Other less relevant matches:

HYDROCEPHALUS DUE TO CONGENITAL STENOSIS OF AQUEDUCT OF SYLVIUS Is also known as aqueductal stenosis

Related symptoms:

  • Intellectual disability
  • Seizures
  • Microcephaly
  • Hypertelorism
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about HYDROCEPHALUS DUE TO CONGENITAL STENOSIS OF AQUEDUCT OF SYLVIUS

Spastic quadriplegia-52 is an autosomal recessive neurodevelopmental disorder characterized by neonatal hypotonia that progresses to hypertonia and spasticity and severe mental retardation with poor or absent speech development (summary by Abou Jamra et al., 2011). Some patients may have seizures (Hardies et al., 2015).

SPASTIC PARAPLEGIA 52, AUTOSOMAL RECESSIVE; SPG52 Is also known as cerebral palsy, spastic quadriplegic, 6, formerly|cpsq6, formerly

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about SPASTIC PARAPLEGIA 52, AUTOSOMAL RECESSIVE; SPG52

Porencephaly is a term used for any cavitation or cerebrospinal fluid-filled cyst in the brain. One form, called encephaloclastic, or type 1, porencephaly, is usually unilateral and results from focal destructive lesions such as fetal vascular occlusion or birth trauma. Another form, called schizencephalic, or type 2, porencephaly, is usually symmetric and represents a primary defect or arrest in the development of the cerebral ventricles. Encephaloclastic porencephaly is more common (Airaksinen, 1984; Sensi et al., 1990). Genetic Heterogeneity of PorencephalySee also POREN2 (OMIM ), caused by mutation in the COL4A2 gene (OMIM ).

FAMILIAL PORENCEPHALY Is also known as t1p|porencephaly, type 1, autosomal dominant|adt1p|hemiplegia, infantile, with porencephaly porencephaly, type 1

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Strabismus
  • Cataract


SOURCES: OMIM ORPHANET MENDELIAN

More info about FAMILIAL PORENCEPHALY

Medium match ALG13-CDG

ALG13-CDG is a form of congenital disorders of N-linked glycosylation characterized by microcephaly, hepatomegaly, edema of the extremities, intractable seizures, recurrent infections and increased bleeding tendency. The disease is caused by mutations in the gene ALG13 (Xq23).

ALG13-CDG Is also known as cdg syndrome type is|congenital disorder of glycosylation type is|cdg1s|cdg-is|congenital disorder of glycosylation type 1s

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ALG13-CDG

Medium match BETA-MANNOSIDOSIS

Beta-mannosidosis is a very rare lysosomal storage disease characterized by developmental delay of varying severity and hearing loss, but that can manifest a wide phenotypic heterogeneity.

BETA-MANNOSIDOSIS Is also known as beta-mannosidase deficiency|beta-mannosidosis|lysosomal beta-mannosidase deficiency

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about BETA-MANNOSIDOSIS

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

Top 5 symptoms//phenotypes associated to Hydrocephalus and Abnormal pyramidal sign

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Spasticity Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Cognitive impairment Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Hydrocephalus and Abnormal pyramidal sign. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Nystagmus Generalized hypotonia Babinski sign Hyperreflexia Spastic paraplegia Microcephaly Aqueductal stenosis Adducted thumb Coarse facial features Strabismus Flexion contracture Macrocephaly Ventriculomegaly Intellectual disability, severe Agenesis of corpus callosum Hypertonia Paraplegia Hemiplegia/hemiparesis Scoliosis Delayed speech and language development Dilatation Hypertelorism Ataxia Dysarthria Tremor Recurrent infections

Rare Symptoms - Less than 30% cases

Cerebral atrophy Abnormal facial shape EEG abnormality Developmental regression Sleep disturbance Epileptic encephalopathy Holoprosencephaly Dysphasia Leukoencephalopathy Muscle weakness Muscular hypotonia Dysphagia Cataract Paraparesis Spastic paraparesis Hyporeflexia Increased intracranial pressure Short neck Talipes equinovarus Small hand Progressive spasticity Hearing impairment Hyperlordosis High palate Kyphosis Gait disturbance Neurological speech impairment Motor delay Tetraplegia Spastic tetraplegia Short stature Flexion contracture of thumb Cerebral palsy Absent septum pellucidum Muscle stiffness Feeding difficulties Joint stiffness Unsteady gait Encephalopathy Hemiparesis Cerebral visual impairment Depressivity Gliosis Aphasia Muscle fibrillation Increased CSF protein Visual field defect Dementia Visual impairment Peripheral neuropathy Brachycephaly Stridor Abnormality of metabolism/homeostasis Recurrent respiratory infections Hyperactivity Hypersomnia Laryngomalacia Spastic tetraparesis Lower limb muscle weakness Intention tremor Hepatosplenomegaly Aggressive behavior Attention deficit hyperactivity disorder Poor coordination Bulbar signs Large face Megalencephaly Hypothermia Generalized tonic-clonic seizures Narrow palpebral fissure Cerebral cortical atrophy Abnormality of brain morphology Skeletal muscle atrophy Clumsiness Long philtrum Autism Microcoria Hyperpigmented nevi Recurrent singultus Abnormal bleeding Delayed myelination Progressive macrocephaly Abnormality of extrapyramidal motor function Hypsarrhythmia Decreased body weight Pseudobulbar signs Horizontal nystagmus Short chin Microretrognathia Poor head control Global brain atrophy Infantile spasms Poor eye contact Self-mutilation Type I transferrin isoform profile Impulsivity Abnormality of lateral ventricle Drowsiness Tics Neurodevelopmental delay Osteopenia Constipation Hyperhidrosis Diabetes mellitus Respiratory failure Dysphonia Anteverted nares Sleep apnea Hypothyroidism Abnormal autonomic nervous system physiology Leukodystrophy Clonus Facial palsy Encephalitis Cough Diplopia Abnormality of the cerebral white matter Cerebral calcification Peripheral demyelination Amenorrhea Hypotension Chorea Sudden cardiac death Dysmetria Abnormality of eye movement Vomiting Precocious puberty Pendular nystagmus Phonic tics Proximal amyotrophy Communicating hydrocephalus Nausea and vomiting Demyelinating peripheral neuropathy Subcortical cerebral atrophy Thenar muscle atrophy Angiokeratoma Urinary glycosaminoglycan excretion Atrophy/Degeneration affecting the brainstem Bowel incontinence Angiokeratoma corporis diffusum Tortuosity of conjunctival vessels Respiratory insufficiency Aspartylglucosaminuria Emotional lability Hypoplasia of the abdominal wall musculature Increased urinary disaccharide excretion Oral-pharyngeal dysphagia Self-injurious behavior Growth delay Failure to thrive Ptosis Hypertension Frontal bossing Weight loss Polymicrogyria Optic atrophy Pes cavus Loss of facial expression Extrapyramidal muscular rigidity Hirano bodies Neoplasm Carcinoma Renal cell carcinoma Clear cell renal cell carcinoma Corticospinal tract hypoplasia Noncommunicating hydrocephalus Intellectual disability, mild Clinodactyly of the 5th finger Abnormality of the nervous system Dysesthesia Camptodactyly of finger Lumbar hyperlordosis Interphalangeal joint contracture of finger Hyperactive deep tendon reflexes Down-sloping shoulders Shuffling gait Hand clenching Severe hydrocephalus Cryptorchidism Micropenis Retrognathia Bilateral cryptorchidism Normal pressure hydrocephalus Supranuclear gaze palsy Oxycephaly Paralysis Blindness Myopathy Behavioral abnormality Headache Myoclonus Gait ataxia Reduced visual acuity Rigidity Anxiety Mental deterioration Irritability Confusion Visual hallucinations Neurodegeneration Abnormal cerebellum morphology Memory impairment Neuronal loss in central nervous system Choreoathetosis Hallucinations Truncal ataxia Language impairment Apathy Personality changes Blurred vision Delusions Visceromegaly Esodeviation Hepatomegaly Hypoplasia of the iris Exotropia Drooling Ischemic stroke Hemiplegia Intracranial hemorrhage Cerebral hemorrhage Cortical dysplasia Opisthotonus Limb dystonia Restlessness Posterior embryotoxon Transient ischemic attack Mitral valve prolapse Facial paralysis Nuclear cataract Stroke-like episode Porencephalic cyst Primitive reflex Hemianopia Pontocerebellar atrophy Schizencephaly Perivascular spaces Spastic hemiparesis Antenatal intracerebral hemorrhage Low-set ears Tetraparesis Muscle cramps Wide nasal bridge Focal-onset seizure Absent speech Neonatal hypotonia Muscular hypotonia of the trunk Apnea Wide mouth Short philtrum Talipes Bulbous nose Thick vermilion border Highly arched eyebrow Prominent nose Febrile seizures Renal cyst Spastic diplegia Facial hypotonia Loss of ability to walk Simple febrile seizures Anemia Cerebellar atrophy Dystonia Elevated serum creatine phosphokinase Cerebellar hypoplasia Stroke Hemolytic anemia Hematuria Diffuse demyelination of the cerebral white matter


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