Hydrocephalus, and Polyneuropathy

Diseases related with Hydrocephalus and Polyneuropathy

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

Top matches:

Familial amyloid polyneuropathy (FAP) or transthyretin (TTR) amyloid polyneuropathy is a progressive sensorimotor and autonomic neuropathy of adulthood onset. Weight loss and cardiac involvement are frequent; ocular or renal complications may also occur.

ATTRV30M AMYLOIDOSIS Is also known as familial amyloid polyneuropathy type i|ttr amyloid neuropathy|attrv30m-related amyloidosis|hereditary amyloidosis, transthyretin-related|transthyretin amyloid polyneuropathy|familial amyloid polyneuropathy, portuguese-swedish-japanese type|fap|amyloid pol

Related symptoms:

  • Seizures
  • Hearing impairment
  • Ataxia
  • Nystagmus
  • Sensorineural hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about ATTRV30M AMYLOIDOSIS

Caused by mutations of gene ERCC6.

COCKAYNE SYNDROME TYPE 2 Is also known as cockayne syndrome type ii

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about COCKAYNE SYNDROME TYPE 2

Cockayne syndrome is characterized by abnormal and slow growth and development that becomes evident within the first few years after birth. 'Cachectic dwarfism' describes the outward appearance of afflicted individuals. Other features include cutaneous photosensitivity, thin, dry hair, a progeroid appearance, progressive pigmentary retinopathy, sensorineural hearing loss, dental caries, and a characteristic stance in the ambulatory patient. Patients often show disproportionately long limbs with large hands and feet, and flexion contractures of joints are usual skeletal features. Knee contractures result in a 'horse-riding stance.' There is delayed neural development and severe progressive neurologic degeneration resulting in mental retardation. The mean age at death in reported cases is 12.5 years, although a few affected individuals have lived into their late teens or twenties. Remarkably, in striking contrast with xeroderma pigmentosum, patients with CS have no significant increase in skin cancer or infection (Nance and Berry, 1992).Lowry (1982) noted that there is an early-onset form of Cockayne syndrome in which patients may show abnormalities at birth and have a shorter survival. Lowry (1982) thus suggested that CS could be divided clinically into the more common type I, with classic CS symptoms that manifest within the first few years or life, and the less common type II, with more severe symptoms that manifest prenatally. Mallery et al. (1998) found no correlation between genotype and phenotype among 16 patients with CS of varying severities, and concluded that clinical differences were based on other genetic backgrounds or the intrauterine environment. Genetic Heterogeneity of Cockayne SyndromeCockayne syndrome is a genetically heterogeneous disorder, and certain types show some overlap with certain forms of xeroderma pigmentosum (XP), another disorder caused by defective DNA repair. See also Cockayne syndrome B (OMIM ), caused by mutation in the ERCC6 gene (OMIM ) on chromosome 10q11; XPG/CS (see {278780}), caused by mutation in the ERCC5 gene (OMIM ) on chromosome 13q33; XPB/CS (see {610651}), caused by mutation in the ERCC3 gene (OMIM ) on chromosome 2q21; and XPF/CS (see {278760}), caused by mutation in the ERCC4 gene (OMIM ) on chromosome 16p13.Rapin et al. (2000) reviewed the clinical, pathologic, and molecular features of Cockayne syndrome, xeroderma pigmentosum, and the XP-CS complex.

COCKAYNE SYNDROME TYPE 1 Is also known as cockayne syndrome type i

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about COCKAYNE SYNDROME TYPE 1

Other less relevant matches:

High match H SYNDROME

H syndrome is a systemic inherited histiocytosis, with characteristic cutaneous findings accompanying systemic manifestations. H syndrome refers to the major clinical findings of hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, low height, and occasionally, hyperglycemia/diabetes mellitus. Due to overlapping clinical features, H syndrome is now considered to include pigmented hypertrichosis with insulin dependent diabetes mellitus syndrome (PHID), Faisalabad histiocytosis (FHC) and familial sinus histiocytosis with massive lymphadenopathy (FSHML).

H SYNDROME Is also known as sinus histiocytosis and massive lymphadenopathy|hjcd|shml|hyperpigmentation, cutaneous, with hypertrichosis, hepatosplenomegaly, heart anomalies, and hypogonadism with or without hearing loss|h syndrome|faisalabad histiocytosis|pigmented hypertrichosis wi

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Growth delay


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about H SYNDROME

Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency is a rare, genetic, slowly progressive neurodegenerative disease resulting from MGLUR1 deficiency characterized by global developmental delay (beginning in infancy), mild to severe intellectual deficit with poor or absent speech, moderate to severe stance and gait ataxia, pyramidal signs (e.g. hyperreflexia) and mild dysdiadochokinesia, dysmetria, tremors, and/or dysarthria. Oculomotor signs, such as nystagmus, strabismus, ptosis and hypometric saccades, may also be associated. Brain imaging reveals progressive, generalized, moderate to severe cerebellar atrophy, inferior vermian hypoplasia, and/or constitutionally small brain.

AUTOSOMAL RECESSIVE CONGENITAL CEREBELLAR ATAXIA DUE TO MGLUR1 DEFICIENCY Is also known as autosomal recessive spinocerebellar ataxia type 13|scar13|autosomal recessive congenital cerebellar ataxia due to metabotropic glutamate receptor 1 deficiency

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE CONGENITAL CEREBELLAR ATAXIA DUE TO MGLUR1 DEFICIENCY

Microcephaly, seizures, and developmental delay is an autosomal recessive neurodevelopmental disorder with onset in infancy. There is a range of phenotypic severity: some patients have a disease course consistent with early infantile epileptic encephalopathy (EIEE), whereas others have more well-controlled seizures and a protracted course associated with cerebellar atrophy and peripheral neuropathy (Shen et al., 2010 and Poulton et al., 2013).For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 (308350).

MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY; MCSZ Is also known as epileptic encephalopathy, early infantile, 10|eiee10

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY; MCSZ

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

Hereditary spastic paraplegia (SPG or HSP) is characterized by progressive weakness and spasticity of the lower limbs due to degeneration of corticospinal axons. SPG11 is a form of complicated SPG, in that it has neurologic features in addition to spasticity.For a discussion of genetic heterogeneity of autosomal recessive SPG, see SPG5A (OMIM ).

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 11 Is also known as spastic paraplegia-intellectual disability-thin corpus callosum syndrome|nakamura-osame syndrome|spastic paraplegia, autosomal recessive, with mental impairment and thin corpus callosum|spastic paraplegia, autosomal recessive, complicated, with thin corpu

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 11

Adult polyglucosan body disease (APBD) is a glycogen storage disease of adults characterized by progressive upper and lower motor neuron dysfunction, progressive neurogenic bladder and cognitive difficulties that can lead to dementia.

ADULT POLYGLUCOSAN BODY DISEASE Is also known as apbd|polyglucosan body disease, adult form

Related symptoms:

  • Intellectual disability
  • Ataxia
  • Muscle weakness
  • Spasticity
  • Cognitive impairment


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about ADULT POLYGLUCOSAN BODY DISEASE

Machado-Joseph disease, named for affected families of Azorean extraction, is an autosomal dominant progressive neurologic disorder characterized principally by ataxia, spasticity, and ocular movement abnormalities. Although independently described as a seemingly separate disorder, spinocerebellar ataxia-3 is now known to be the same as Machado-Joseph disease.Three classic clinical subtypes of MJD are recognized: type 1 with early onset and marked pyramidal and dystonic signs; type 2, or pure, with predominant cerebellar ataxia; and type 3 with later-onset and peripheral neuropathy (Franca et al., 2008).

MACHADO-JOSEPH DISEASE; MJD Is also known as spinocerebellar ataxia 3|spinocerebellar atrophy iii|spinopontine atrophy|azorean neurologic disease|nigrospinodentatal degeneration|sca3

Related symptoms:

  • Ataxia
  • Nystagmus
  • Pain
  • Spasticity
  • Ptosis


SOURCES: OMIM MENDELIAN

More info about MACHADO-JOSEPH DISEASE; MJD

Top 5 symptoms//phenotypes associated to Hydrocephalus and Polyneuropathy

Symptoms // Phenotype % cases
Ataxia Very Common - Between 80% and 100% cases
Nystagmus Common - Between 50% and 80% cases
Spasticity Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Peripheral neuropathy

Uncommon Symptoms - Between 30% and 50% cases

Intellectual disability

Common Symptoms - More than 50% cases

Tremor

Uncommon Symptoms - Between 30% and 50% cases

Dementia Hearing impairment Ventriculomegaly Short stature Cerebellar atrophy Sensorineural hearing impairment Dysarthria Muscle weakness Hyperreflexia Optic atrophy Gait ataxia Abnormal pyramidal sign Cerebral atrophy Urinary incontinence Flexion contracture Babinski sign Severe short stature Diabetes mellitus Urinary bladder sphincter dysfunction Splenomegaly Intellectual disability, severe Limitation of joint mobility Decreased number of peripheral myelinated nerve fibers Ptosis Hepatomegaly Generalized hypotonia Cataract Gait disturbance Failure to thrive Microcephaly Pain Micropenis Visual impairment Paresthesia Skeletal muscle atrophy Paraplegia Peripheral axonal neuropathy Mental deterioration Abnormality of the cerebral white matter Sensory neuropathy Hypoplasia of the corpus callosum Arrhythmia Neuronal loss in central nervous system Renal insufficiency

Rare Symptoms - Less than 30% cases

Loss of facial adipose tissue Decreased nerve conduction velocity Normal pressure hydrocephalus Opacification of the corneal stroma Severe photosensitivity Cutaneous photosensitivity Increased cellular sensitivity to UV light Progeroid facial appearance Anhidrosis Reduced subcutaneous adipose tissue Hypoplastic iliac wing Thickened calvaria Decreased lacrimation Delayed eruption of primary teeth Basal ganglia calcification Abnormal auditory evoked potentials Abnormality of visual evoked potentials Hypoplasia of teeth Dry hair Atypical scarring of skin Hypoplastic pelvis Cardiomyopathy Peripheral dysmyelination Cognitive impairment Lower limb spasticity Sensory impairment Distal amyotrophy Spastic paraplegia Cerebral cortical atrophy Dysphagia Atrophy/Degeneration affecting the brainstem Urinary urgency Progressive cerebellar ataxia Depressivity Behavioral abnormality Hypometric saccades Abnormality of eye movement Absent speech Reduced tendon reflexes Gaze-evoked nystagmus Square pelvis bone CNS demyelination Ivory epiphyses of the phalanges of the hand Patchy demyelination of subcortical white matter Neoplasm Hypogonadism Retinopathy Amyotrophic lateral sclerosis Abnormality of extrapyramidal motor function Pes planus Pigmentary retinopathy Progressive spastic paraparesis Motor polyneuropathy Corpus callosum atrophy Abnormality of the periventricular white matter Proptosis Bradykinesia Slender nose Dental malocclusion Bilateral sensorineural hearing impairment Kyphosis Intrauterine growth retardation Hypertension Cryptorchidism Strabismus Impotence Psychomotor deterioration Hemiparesis Axonal degeneration Peripheral demyelination Hypotension Orthostatic hypotension Malabsorption Fever Gliosis Hyporeflexia Cardiomegaly Mandibular prognathia Abnormality of skin pigmentation Carious teeth Hypermetropia Spastic paraparesis Abnormal autonomic nervous system physiology Dry skin Paraparesis Hallucinations Sparse hair Abnormality of the pinna Proteinuria Head tremor Predominantly lower limb lymphedema Abnormality of the cerebrospinal fluid Excessive daytime sleepiness Narcolepsy Low back pain Cataplexy Pseudobulbar signs Primitive reflex Delayed speech and language development Dilated third ventricle Involuntary movements Lower limb muscle weakness Specific learning disability Dilatation Obesity Myokymia Agenesis of corpus callosum Pes cavus Abnormality of mitochondrial metabolism Paralysis Retinal degeneration Resting tremor Torsion dystonia Lymphedema Intellectual disability, profound Functional motor deficit Limb dysmetria Gaze-evoked horizontal nystagmus Difficulty standing Dysdiadochokinesis Horizontal nystagmus Esotropia Inferior vermis hypoplasia Dysmetria Supranuclear ophthalmoplegia Neurological speech impairment Downbeat nystagmus Impaired horizontal smooth pursuit Palatal myoclonus Retrocerebellar cyst Abnormality of ocular abduction Psychosis Progressive microcephaly Memory impairment Dilated fourth ventricle Chronic pain Abnormality of the nervous system Sensorimotor neuropathy Cortical gyral simplification Epileptic encephalopathy Motor delay Febrile seizures Hyperactivity Encephalopathy Immunodeficiency Restless legs Dysmetric saccades Delirium Spastic gait Ankle clonus Muscle stiffness Neurogenic bladder Facial-lingual fasciculations Limb ataxia Diplopia Fasciculations Erectile abnormalities Abnormal upper motor neuron morphology Hypomimic face Parkinsonism Slow saccadic eye movements Truncal ataxia EMG abnormality Foot dorsiflexor weakness Skin ulcer External ophthalmoplegia Abnormality of central motor function Decreased/absent ankle reflexes Progressive muscle weakness Lafora bodies Myoclonus Dystonia Anxiety Abnormality of the eye Leukemia Cervical spinal cord atrophy Ophthalmoplegia Abnormal cerebellum morphology Unsteady gait Confusion Neurodegeneration Seborrheic keratosis Postural instability Muscle cramps Decreased liver function Tetraparesis Macular degeneration Tongue fasciculations Absent Achilles reflex Overweight Spinocerebellar tract degeneration Spastic dysarthria Impaired vibration sensation in the lower limbs Axonal loss Progressive spastic paraplegia Saccadic smooth pursuit Rigidity Lower limb hyperreflexia Olivopontocerebellar atrophy Oral-pharyngeal dysphagia CNS hypomyelination Aplasia/Hypoplasia of the corpus callosum Delusions Degeneration of the lateral corticospinal tracts Back pain Abnormality of metabolism/homeostasis Spinal muscular atrophy Ophthalmoparesis Akinesia Distal sensory impairment Difficulty walking Impaired vibratory sensation Hypertonia Upper limb spasticity Temporal cortical atrophy Distal peripheral sensory neuropathy Progressive external ophthalmoplegia Demyelinating sensory neuropathy Knee clonus Thenar muscle atrophy Tip-toe gait Decreased urine output Telangiectasia Retroperitoneal fibrosis Knee flexion contracture Chorioretinitis Retinal pigment epithelial mottling Menstrual irregularities Severe postnatal growth retardation Large hands Neoplasm of the skin Atherosclerosis Leukodystrophy Growth delay Anorexia Cerebral calcification Cerebellar calcifications Subcortical white matter calcifications Abnormal peripheral myelination Severe failure to thrive Hypoplasia of the iris Dermal atrophy Thymic hormone decreased Hypertelorism Microcornea Hernia Posteriorly rotated ears Pneumonia Alopecia Delayed skeletal maturation Abnormal heart morphology Patent ductus arteriosus Clinodactyly Intellectual disability, mild Anemia Edema Atrial septal defect Anteverted nares Ventricular septal defect Frontal bossing Wide nasal bridge Brachydactyly Epicanthus Abnormality of the hair Congenital cataract Hypothyroidism Nephropathy Cerebral hemorrhage Rheumatoid arthritis Cachexia Atrioventricular block Vasculitis Migraine Coma Facial palsy Aphasia Arthritis Weight loss Constipation Areflexia Headache Congestive heart failure Diarrhea Vomiting Malnutrition Amyloidosis Small for gestational age Orthostatic hypotension due to autonomic dysfunction Prominent nasal bridge Postnatal growth retardation Deeply set eye Osteoporosis Microphthalmia Amyloid deposition in the vitreous humor Cardiac amyloidosis Vitreous floaters Urinary retention Syringomyelia Sensory ataxia Abnormal renal physiology Myelopathy Constrictive median neuropathy Stroke-like episode Multiple myeloma Restrictive cardiomyopathy Increased CSF protein Hyperkeratosis Dyspnea Upper eyelid edema Episodic fever Communicating hydrocephalus Varicose veins Aspiration pneumonia Abnormal eyebrow morphology Enlarged kidney Exocrine pancreatic insufficiency Severe sensorineural hearing impairment Polycythemia Recurrent pharyngitis Scleroderma Lipoatrophy Microcytic anemia Elevated erythrocyte sedimentation rate Increased antibody level in blood Hallux valgus Leukocytosis Hyperglycemia Decreased serum testosterone level Nasal obstruction Psoriasiform dermatitis Myelofibrosis Bilateral camptodactyly Cervical lymphadenopathy Stiff skin Snoring Episcleritis Panniculitis Facial telangiectasia Generalized lymphadenopathy Skin nodule Corneal arcus Hyperplasia of the maxilla Broad finger Pancreatic hypoplasia Abnormality of cardiovascular system physiology Chronic rhinitis Reticulocytopenia Histiocytosis Stridor Lipodystrophy Hepatosplenomegaly Abnormality of the foot Growth hormone deficiency Full cheeks Recurrent fractures Flat face Cleft upper lip Ichthyosis Lymphadenopathy Delayed puberty Decreased testicular size Hypotrichosis Pectus carinatum Abnormal cardiac septum morphology Apnea Abnormality of the kidney Camptodactyly Low-set, posteriorly rotated ears Conductive hearing impairment Wide intermamillary distance Amenorrhea Sleep apnea Hyperpigmentation of the skin Azoospermia Plagiocephaly Osteolysis Type I diabetes mellitus Elbow flexion contracture Hypergonadotropic hypogonadism Aspiration Gynecomastia Gingival overgrowth Overgrowth Bronchiectasis Primary amenorrhea Hypertrichosis Hypertriglyceridemia Blue sclerae Epistaxis Epidermal acanthosis Mitral valve prolapse Abnormal electrooculogram


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