Visual impairment, and Sleep disturbance

Diseases related with Visual impairment and Sleep disturbance

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


Top matches:

Low match NONARTERITIC ANTERIOR ISCHEMIC OPTIC NEUROPATHY, SUSCEPTIBILITY TO


NONARTERITIC ANTERIOR ISCHEMIC OPTIC NEUROPATHY, SUSCEPTIBILITY TO Is also known as naion, susceptibility to|optic neuropathy, anterior ischemic, susceptibility to

Related symptoms:

  • Peripheral neuropathy
  • Visual loss
  • Apnea
  • Hypercholesterolemia
  • Sleep apnea


SOURCES: OMIM MENDELIAN

More info about NONARTERITIC ANTERIOR ISCHEMIC OPTIC NEUROPATHY, SUSCEPTIBILITY TO

Low match SEVERE CANAVAN DISEASE


Severe Canavan disease (CD) is a rapidly progressing neurodegenerative disorder characterized by leukodystrophy with macrocephaly, severe developmental delay and hypotonia.

SEVERE CANAVAN DISEASE Is also known as neonatal canavan disease|infantile canavan disease

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about SEVERE CANAVAN DISEASE

Low match CLN7 DISEASE


The neuronal ceroid lipofuscinoses (NCL, or CLN) are a clinically and genetically heterogeneous group of neurodegenerative disorders characterized by the intracellular accumulation of autofluorescent lipopigment storage material in different patterns ultrastructurally (summary by Mole et al., 2005).For a general phenotypic description and a discussion of genetic heterogeneity of CLN, see CLN1 (OMIM ).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Ataxia
  • Delayed speech and language development
  • Visual impairment


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about CLN7 DISEASE

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Other less relevant matches:

Low match SPINOCEREBELLAR ATAXIA TYPE 7


Spinocerebellar ataxia type 7 (SCA7), currently the only known form of autosomal dominant cerebellar ataxia type 2 (ADCA2; see this term), is a neurodegenerative disorder characterized by progressive ataxia, motor system abnormalities, dysarthria, dysphagia and retinal degeneration leading to progressive blindness.

SPINOCEREBELLAR ATAXIA TYPE 7 Is also known as ataxia with pigmentary retinopathy|sca7|cerebellar syndrome-pigmentary maculopathy syndrome

Related symptoms:

  • Global developmental delay
  • Ataxia
  • Nystagmus
  • Failure to thrive
  • Muscle weakness


SOURCES: ORPHANET MENDELIAN

More info about SPINOCEREBELLAR ATAXIA TYPE 7

Low match CHERUBISM


Cherubism is a rare, self-limiting, fibro-osseous, genetic disease of childhood and adolescence characterized by varying degrees of progressive bilateral enlargement of the mandible and/or maxilla, with clinical repercussions in severe cases.

CHERUBISM Is also known as crbm

Related symptoms:

  • Intellectual disability
  • Neoplasm
  • Visual impairment
  • Peripheral neuropathy
  • Optic atrophy


SOURCES: ORPHANET OMIM MENDELIAN

More info about CHERUBISM

Low match PITUITARY APOPLEXY


The sudden loss of blood supply to the PITUITARY GLAND, leading to tissue NECROSIS and loss of function (PANHYPOPITUITARISM). The most common cause is hemorrhage or INFARCTION of a PITUITARY ADENOMA. It can also result from acute hemorrhage into SELLA TURCICA due to HEAD TRAUMA; INTRACRANIAL HYPERTENSION; or other acute effects of central nervous system hemorrhage. Clinical signs include severe HEADACHE; HYPOTENSION; bilateral visual disturbances; UNCONSCIOUSNESS; and COMA.

Related symptoms:

  • Ptosis
  • Hypertension
  • Fever
  • Fatigue
  • Headache


SOURCES: MESH ORPHANET MENDELIAN

More info about PITUITARY APOPLEXY

Low match MENTAL RETARDATION, AUTOSOMAL DOMINANT 34; MRD34


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 34; MRD34

Low match X-LINKED CHARCOT-MARIE-TOOTH DISEASE TYPE 5


X-linked Charcot-Marie-Tooth disease type 5 is a rare, genetic, peripheral sensorimotor neuropathy characterized by an X-linked recessive inheritance pattern and the infancy- to childhood-onset of: 1) progressive distal muscle weakness and atrophy (first appearing and more prominent in the lower extremities than the upper) which usually manifests with foot drop and gait disturbance, 2) bilateral, profound, prelingual sensorineural hearing loss and 3) progressive optic neuropathy. Females are asymptomatic and do not display the phenotype.

X-LINKED CHARCOT-MARIE-TOOTH DISEASE TYPE 5 Is also known as cmt5x|cmtx5|optic atrophy, polyneuropathy, and deafness|rosenberg-chutorian syndrome|charcot-marie-tooth neuropathy, x-linked recessive, 5

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis
  • Ataxia


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED CHARCOT-MARIE-TOOTH DISEASE TYPE 5

Low match GERSTMANN-STRAUSSLER-SCHEINKER SYNDROME


Gerstmann-Straussler-Scheinker syndrome (GSSS) is a particular and rare form of human transmissible spongiform encephalopathy (TSE) due to a defective gene encoding the prion protein (PRNP gene) and marked by particular multicentric amyloid plaques in the brain.

GERSTMANN-STRAUSSLER-SCHEINKER SYNDROME Is also known as gerstmann-straussler-scheinker disease|prion dementia|subacute spongiform encephalopathy, gerstmann-straussler type|encephalopathy, subacute spongiform, gerstmann-straussler type|amyloidosis, cerebral, with spongiform encephalopathy|cerebellar ataxia, pro

Related symptoms:

  • Seizures
  • Hearing impairment
  • Ataxia
  • Nystagmus
  • Spasticity


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about GERSTMANN-STRAUSSLER-SCHEINKER SYNDROME

Top 5 symptoms//phenotypes associated to Visual impairment and Sleep disturbance

Symptoms // Phenotype % cases
Visual loss Common - Between 50% and 80% cases
Ataxia Uncommon - Between 30% and 50% cases
Optic atrophy Uncommon - Between 30% and 50% cases
Hearing impairment 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 Visual impairment and Sleep disturbance. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Seizures Tremor Cerebellar atrophy Peripheral neuropathy Reduced visual acuity Dysarthria Sensory impairment Mental deterioration Gait disturbance Blindness Areflexia Muscle weakness Nystagmus Coma Dysphagia Broad-based gait Optic neuropathy Intellectual disability Excessive daytime somnolence

Rare Symptoms - Less than 30% cases


Psychosis Motor delay Difficulty walking Distal amyotrophy Ptosis Distal sensory impairment Pallor Progressive visual loss Confusion Hyperreflexia Sensory neuropathy Impaired pain sensation Skeletal muscle hypertrophy Language impairment Photophobia Paraparesis Dysmetria Abnormality of extrapyramidal motor function Lower limb muscle weakness Paresthesia Distal muscle weakness Myoclonus Muscular hypotonia Spasticity Memory impairment EEG abnormality Scoliosis Cerebral atrophy Rod-cone dystrophy Gait ataxia Rigidity Kyphosis Aggressive behavior Neurodegeneration Pes cavus Generalized hypotonia Bilateral ptosis Abnormal nerve conduction velocity Myopathic facies 2-3 toe syndactyly Segmental peripheral demyelination/remyelination Diarrhea Cognitive impairment Myopathy Areflexia of lower limbs Depressivity Encephalopathy Coarse hair Hyporeflexia Drooling Kinetic tremor Macular atrophy Congenital nystagmus Falls Polyneuropathy Cataract Optic disc pallor Bilateral sensorineural hearing impairment Sensorineural hearing impairment Elevated serum creatine phosphokinase Frequent falls Dementia Sensorimotor neuropathy Peripheral axonal neuropathy Progressive hearing impairment Curly hair Mildly elevated creatine phosphokinase Onion bulb formation Bruxism Spastic tetraplegia Cerebral cortical atrophy Dysesthesia Emotional lability Athetosis Alzheimer disease Global brain atrophy Aphasia Neurofibrillary tangles Insomnia Impaired smooth pursuit Lewy bodies Hypomimic face Supranuclear gaze palsy Perseveration Personality changes Cerebral amyloid angiopathy Skeletal muscle atrophy Pectus excavatum Abnormality of the foot Peripheral demyelination Short thumb Joint contracture of the hand Progressive sensorineural hearing impairment Thoracic scoliosis Ulnar deviation of the hand Abnormality of peripheral nerve conduction Positive Romberg sign Akinesia Apathy Weight loss Brain atrophy Anxiety Abnormality of the eye Paralysis Limb muscle weakness Abnormality of eye movement Poor speech Unsteady gait Tetraplegia Progressive cerebellar ataxia Parkinsonism Gliosis Hip dysplasia Slurred speech Bradykinesia Apraxia Cerebral visual impairment Clumsiness Involuntary movements Chronic diarrhea Limb ataxia Hallucinations Truncal ataxia Muscle stiffness Mutism Hyperkinesis Widely spaced teeth Trigeminal neuralgia Stereotypy Abnormality of the dentition Ophthalmoplegia Macular degeneration Cone/cone-rod dystrophy Dysdiadochokinesis Ophthalmoparesis Orofacial dyskinesia Restless legs Hemeralopia Abnormal fundus morphology Neoplasm Proptosis Babinski sign Feeding difficulties in infancy Craniosynostosis Scarring Full cheeks Round face Oligodontia Abnormality of the voice Clubbing Abnormality of dental morphology Constriction of peripheral visual field Striae distensae Neonatal hypotonia Congestive heart failure Upper airway obstruction Developmental regression Apnea Hypercholesterolemia Sleep apnea Drusen Nonarteritic anterior ischemic optic neuropathy Optic disc drusen Macrocephaly Gastroesophageal reflux Lethargy Abnormality of visual evoked potentials Delayed speech and language development Retinopathy Feeding difficulties Neurological speech impairment Generalized myoclonic seizures Nevus Focal-onset seizure Pigmentary retinopathy Postural tremor Loss of speech Vegetative state Vacuolated lymphocytes Intracellular accumulation of autofluorescent lipopigment storage material Failure to thrive Obstructive sleep apnea Clubbing of fingers Postnatal microcephaly Microcephaly Normochromic anemia Galactorrhea Abnormality of the cerebrospinal fluid Mydriasis Prolactin deficiency Bitemporal hemianopia Abnormal kinetic perimetry test Thunderclap headache Abnormal caudate nucleus morphology Abnormal static automated perimetry test Epicanthus Adrenocorticotropic hormone deficiency Anteverted nares Syndactyly Upslanted palpebral fissure Muscular hypotonia of the trunk Generalized tonic-clonic seizures Synophrys Toe syndactyly Smooth philtrum Short foot Wide intermamillary distance Oligohydramnios Central diabetes insipidus Pituitary hypothyroidism Bone cyst Growth hormone deficiency Abnormality of the mandible Macular scar Broad jaw Marcus Gunn pupil Lower eyelid retraction Hypertension Fever Fatigue Headache Hypoglycemia Nausea and vomiting Hypotension Pituitary adenoma Diplopia Hypergonadotropic hypogonadism Cranial nerve paralysis Hyponatremia Impotence Blurred vision Hypopituitarism Growth hormone excess Increased circulating cortisol level Oligomenorrhea Prolactin excess Distal upper limb amyotrophy



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