Strabismus, and Anxiety

Diseases related with Strabismus and Anxiety

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


Top matches:

Low match SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY


Succinic semialdehyde dehydrogenase (SSADH) deficiency is a rare neurometabolic disorder of gamma-aminobutyric acid (GABA) metabolism with a nonspecific clinical presentation (ranging from mild to severe) with the most frequent symptoms being cognitive impairment with prominent deficit in expressive language, hypotonia, ataxia, epilepsy, and behavioral dysregulation.

SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY Is also known as ssadh deficiency|4-hydroxybutyric aciduria|gaba metabolic defect|gamma-hydroxybutyric aciduria

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY

Low match INTELLECTUAL DISABILITY-SEVERE SPEECH DELAY-MILD DYSMORPHISM SYNDROME


Intellectual disability-severe speech delay-mild dysmorphism syndrome is a rare, genetic, syndromic intellectual disability disorder, with highly variable phenotype, typically characterized by mild to severe global development delay, severe speech and language impairment, mild to severe intellectual disability, dysphagia, hypotonia, relative to true macrocephaly, and behavioral problems that may include autistic features, hyperactivity, and mood lability. Facial gestalt typically features a broad, prominent forehead, hypertelorism, downslanting palpebral fissures, ptosis, a short bulbous nose with broad tip, thick vermilion border, wide, and open mouth with downturned corners. Brain, cardiac, urogenital and ocular malformations may be associated.

INTELLECTUAL DISABILITY-SEVERE SPEECH DELAY-MILD DYSMORPHISM SYNDROME Is also known as foxp1 syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about INTELLECTUAL DISABILITY-SEVERE SPEECH DELAY-MILD DYSMORPHISM SYNDROME

Low match HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B; HPABH4B


HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B; HPABH4B Is also known as gtp cyclohydrolase i deficiency|hyperphenylalaninemia, tetrahydrobiopterin-deficient, due to gtp cyclohydrolase i deficiency

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B; HPABH4B

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Other less relevant matches:

Low match SOTOS SYNDROME 2; SOTOS2


SOTOS SYNDROME 2; SOTOS2 Is also known as malan syndrome

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Scoliosis
  • Nystagmus
  • Strabismus


SOURCES: OMIM MENDELIAN

More info about SOTOS SYNDROME 2; SOTOS2

Low match INTELLECTUAL DEVELOPMENTAL DISORDER WITH GASTROINTESTINAL DIFFICULTIES AND HIGH PAIN THRESHOLD; IDDGIP


IDDGIP is an autosomal dominant syndromic neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability with speech delay, and behavioral abnormalities. Most patients have variable additional features, including feeding and gastrointestinal difficulties, high pain threshold and/or hypersensitivity to sound, and dysmorphic features, including mild facial abnormalities, strabismus, and small hands and feet (summary by Jansen et al., 2017).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about INTELLECTUAL DEVELOPMENTAL DISORDER WITH GASTROINTESTINAL DIFFICULTIES AND HIGH PAIN THRESHOLD; IDDGIP

Low match DEVELOPMENTAL AND SPEECH DELAY DUE TO SOX5 DEFICIENCY


Developmental and speech delay due to SOX5 deficiency is a rare genetic syndromic intellectual disability characterized by mild to severe global developmental delay, intellectual disability and behavioral abnormalities, hypotonia, strabismus, optic nerve hypoplasia and mild facial dysmorphic features (down slanting palpebral fissures, frontal bossing, crowded teeth, auricular abnormalities and prominent philtral ridges). Other associated clinical features may include seizures and skeletal anomalies (kyphosis/scoliosis, pectus deformities).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Scoliosis
  • Strabismus
  • Muscular hypotonia


SOURCES: ORPHANET MENDELIAN

More info about DEVELOPMENTAL AND SPEECH DELAY DUE TO SOX5 DEFICIENCY

Low match FACIAL DYSMORPHISM-DEVELOPMENTAL DELAY-BEHAVIORAL ABNORMALITIES SYNDROME DUE TO WAC POINT MUTATION


DeSanto-Shinawi syndrome is a rare neurodevelopmental disorder characterized by global developmental delay apparent in infancy or early childhood and associated with characteristic dysmorphic facial features, such as broad forehead, depressed nasal bridge with bulbous nasal tip, and deep-set eyes. Most patients also have gastrointestinal and mild ocular abnormalities, as well as behavioral problems (summary by DeSanto et al., 2015).

FACIAL DYSMORPHISM-DEVELOPMENTAL DELAY-BEHAVIORAL ABNORMALITIES SYNDROME DUE TO WAC POINT MUTATION Is also known as developmental delay, behavioral abnormalities, facial dysmorphism, and ocular abnormalities

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Hypertelorism


SOURCES: OMIM ORPHANET MENDELIAN

More info about FACIAL DYSMORPHISM-DEVELOPMENTAL DELAY-BEHAVIORAL ABNORMALITIES SYNDROME DUE TO WAC POINT MUTATION

Low match INHERITED CREUTZFELDT-JAKOB DISEASE


Inherited or familial Creutzfeldt-Jakob disease (fCJD) is a very rare form of genetic prion disease (see this term) characterized by typical CJD features (rapidly progressive dementia, personality/behavioral changes, psychiatric disorders, myoclonus, and ataxia) with a genetic cause and sometimes a family history of dementia.

INHERITED CREUTZFELDT-JAKOB DISEASE Is also known as inherited cjd

Related symptoms:

  • Seizures
  • Nystagmus
  • Muscle weakness
  • Tremor
  • Depressivity


SOURCES: ORPHANET MENDELIAN

More info about INHERITED CREUTZFELDT-JAKOB DISEASE

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 PURA-RELATED SEVERE NEONATAL HYPOTONIA-SEIZURES-ENCEPHALOPATHY SYNDROME DUE TO A POINT MUTATION


PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation is a rare, genetic neurological disease, with a highly variable phenotype, typically characterized by neonatal hypotonia, respiratory and feeding difficulties, global development delay (often with nonverbal and frequently non-ambulatory progression) and myopathic facies. Other frequently present features include seizures (or seizure-like episodes), visual impairment and encephalopathy.

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about PURA-RELATED SEVERE NEONATAL HYPOTONIA-SEIZURES-ENCEPHALOPATHY SYNDROME DUE TO A POINT MUTATION

Top 5 symptoms//phenotypes associated to Strabismus and Anxiety

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Delayed speech and language development Common - Between 50% and 80% cases
Behavioral abnormality Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Strabismus and Anxiety. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Seizures

Uncommon Symptoms - Between 30% and 50% cases


Hyperactivity Nystagmus Feeding difficulties Attention deficit hyperactivity disorder Broad forehead Aggressive behavior Irritability Myoclonus Motor delay Choreoathetosis Hypertelorism Prominent forehead Constipation Myopia Abnormal facial shape Hallucinations Depressivity Encephalopathy Obsessive-compulsive behavior Tremor Autism Muscular hypotonia

Rare Symptoms - Less than 30% cases


Babinski sign Rigidity Bradykinesia Scoliosis Fever Hyperreflexia Ventriculomegaly Ptosis High forehead Broad-based gait Hypermetropia Apathy Cerebral visual impairment Unsteady gait Visual impairment Loss of facial expression Supranuclear gaze palsy Delusions Increased CSF protein Personality changes Neuronal loss in central nervous system Astigmatism Confusion Abnormal pyramidal sign Gait ataxia Dementia Hypoplasia of the corpus callosum Language impairment Thin upper lip vermilion Posteriorly rotated ears Spasticity Gastroesophageal reflux Dystonia Autistic behavior Abnormality of the eye Downslanted palpebral fissures Short nose Macrocephaly Ataxia Abnormality of eye movement Sleep disturbance Self-injurious behavior Apraxia Intellectual disability, moderate Delayed myelination Open mouth Stereotypy Drooling Hyperkinesis Clumsiness Spastic hemiparesis Focal T2 hyperintense basal ganglia lesion Trigeminal neuralgia Progressive extrapyramidal muscular rigidity Central nervous system degeneration Relative macrocephaly Abnormal pupillary function Hyporeflexia Astrocytosis Akinetic mutism Progressive forgetfulness Diffuse spongiform leukoencephalopathy Poor visual behavior for age Amyloidosis of peripheral nerves Vestibular nystagmus Hypersomnia Insomnia Stroke-like episode Generalized tonic-clonic seizures Full cheeks Agitation Inverted nipples Muscle weakness Aciduria Generalized myoclonic seizures Progressive cerebellar ataxia Chorea Abnormal autonomic nervous system physiology Spastic dysarthria Abnormality of vision Slurred speech Emotional lability Global brain atrophy Cataract Abnormality of the nervous system Short attention span EEG abnormality Senile plaques EEG with persistent abnormal rhythmic activity Headache Abnormality of metabolism/homeostasis Facial asymmetry Epicanthus Respiratory insufficiency Edema Absent speech Upslanted palpebral fissure Neonatal hypotonia Telecanthus Apnea Dolichocephaly Esotropia Microcephaly Epileptic encephalopathy Cafe-au-lait spot CNS hypomyelination Deep philtrum Precocious puberty Bilateral ptosis Overlapping toe Myopathic facies Neurodevelopmental delay High palate Hirano bodies Peripheral neuropathy Abnormal cerebellum morphology Hydrocephalus Blindness Myopathy Hirsutism Recurrent infections Reduced visual acuity Mental deterioration Paralysis Neurodegeneration Gliosis Extrapyramidal muscular rigidity Memory impairment Hemiparesis Truncal ataxia Aphasia Blurred vision Visual field defect Muscle fibrillation Visual hallucinations Dysesthesia Normal pressure hydrocephalus Downturned corners of mouth Brachycephaly Thick eyebrow Hyperphenylalaninemia Impulsivity Opisthotonus Hypokinesia Limb dystonia Episodic fever Limb hypertonia Excessive salivation Infantile encephalopathy Oculogyric crisis Failure to thrive Torticollis Paroxysmal dystonia Pectus excavatum Narrow mouth Mandibular prognathia Cataplexy Disinhibition Long face Everted lower lip vermilion Overgrowth Poor suck Severe muscular hypotonia Coxa valga Poor speech Large forehead Speech apraxia Delayed gross motor development Dysarthria Broad nasal tip Gait disturbance Fatigue Dysphagia Hypertonia Retrognathia Intellectual disability, progressive Obesity Hyperhidrosis Muscular hypotonia of the trunk Lethargy Abnormality of movement Postural instability Parkinsonism Progressive neurologic deterioration Involuntary movements Narrow face Accelerated skeletal maturation Bulbous nose Exaggerated median tongue furrow Dental crowding Exotropia Narrow palate 2-3 toe syndactyly Vertebral fusion Butterfly vertebrae Hyperplasia of the maxilla Thoracic kyphoscoliosis Abnormality of brain morphology Hearing impairment Mitral regurgitation Sensorineural hearing impairment Depressed nasal bridge Short neck Midface retrusion Delayed ability to walk Coarse facial features Deeply set eye Abnormality of the pinna Synophrys Abnormality of the genital system Lumbar hyperlordosis Cutis marmorata Vomiting Long fingers Advanced eruption of teeth Short stature Pain Low-set ears Brachydactyly Oculomotor apraxia Anteverted nares Atrial septal defect Absence seizures Pectus carinatum Psychosis Low-set, posteriorly rotated ears Hyperlordosis Wide mouth Small hand Short foot Small nail Status epilepticus Optic atrophy Frontal bossing Facial hypotonia



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