Ptosis, and Anxiety

Diseases related with Ptosis and Anxiety

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


Top matches:

Medium match PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 5; PEOA5


PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 5; PEOA5 Is also known as progressive external ophthalmoplegia, autosomal dominant 5

Related symptoms:

  • Hearing impairment
  • Ataxia
  • Ptosis
  • Dysarthria
  • Fatigue


SOURCES: MESH OMIM MENDELIAN

More info about PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 5; PEOA5

Medium match SKELETAL OVERGROWTH-CRANIOFACIAL DYSMORPHISM-HYPERELASTIC SKIN-WHITE MATTER LESIONS SYNDROME


Kosaki overgrowth syndrome is characterized by a facial gestalt involving prominent forehead, proptosis, downslanting palpebral fissures, wide nasal bridge, thin upper lip, and pointed chin. Affected individuals are tall, with an elongated lower segment, hands, and feet. Skin is hyperelastic and fragile, and there is progressive neurologic deterioration with white matter lesions on brain imaging (Takenouchi et al., 2015).

SKELETAL OVERGROWTH-CRANIOFACIAL DYSMORPHISM-HYPERELASTIC SKIN-WHITE MATTER LESIONS SYNDROME Is also known as skeletal overgrowth with facial dysmorphism, hyperelastic skin, white matter lesions, and neurologic deterioration|kosaki overgrowth syndrome

Related symptoms:

  • Scoliosis
  • Neoplasm
  • Ptosis
  • Depressed nasal bridge
  • Wide nasal bridge


SOURCES: OMIM ORPHANET MENDELIAN

More info about SKELETAL OVERGROWTH-CRANIOFACIAL DYSMORPHISM-HYPERELASTIC SKIN-WHITE MATTER LESIONS SYNDROME

Medium 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

Mendelian

Too many results?
We can help you with your rare disease diagnosis.

Learn more

Other less relevant matches:

Medium match DOPA-RESPONSIVE DYSTONIA DUE TO SEPIAPTERIN REDUCTASE DEFICIENCY


Dopa-responsive dystonia (DRD) due to sepiapterin reductase deficiency (SRD) is a very rare neurometabolic disorder characterized by dystonia with diurnal fluctuations, axial hypotonia, oculogyric crises, and delays in motor and cognitive development.

DOPA-RESPONSIVE DYSTONIA DUE TO SEPIAPTERIN REDUCTASE DEFICIENCY Is also known as srd|spr deficiency|drd due to srd|sepiapterin reductase deficiency|autosomal recessive sepiapterin reductase-deficient drd

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about DOPA-RESPONSIVE DYSTONIA DUE TO SEPIAPTERIN REDUCTASE DEFICIENCY

Medium 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

Medium match DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES; DIDOD


DIDOD is a disorder characterized by global developmental delay apparent from infancy, intellectual disability or learning difficulties, behavioral abnormalities, dysmorphic features, and obesity. The severity of the phenotype and additional features are variable (summary by Jansen et al., 2018).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES; DIDOD

Medium match GABRIELE-DE VRIES SYNDROME


Gabriele-de Vries syndrome is an autosomal dominant neurodevelopmental disorder characterized by delayed psychomotor development, variable cognitive impairment, often with behavioral problems, feeding problems, some movement abnormalities, and dysmorphic facial features. Affected individuals may also have a variety of congenital abnormalities (summary by Gabriele et al., 2017).

GABRIELE-DE VRIES SYNDROME Is also known as yy1 haploinsufficiency syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Growth delay
  • Micrognathia
  • Strabismus


SOURCES: OMIM ORPHANET MENDELIAN

More info about GABRIELE-DE VRIES SYNDROME

Medium match HARTNUP DISEASE


Hartnup disease is a rare metabolic disorder belonging to the neutral aminoacidurias and characterized by abnormal renal and gastrointestinal transport of neutral amino acids (tryptophan, alanine, asparagine, glutamine, histidine, isoleucine, leucine, phenylalanine, serine, threonine, tyrosine and valine).

HARTNUP DISEASE Is also known as aminoaciduria, hartnup type|hartnup disease|hartnup disorder

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about HARTNUP DISEASE

Medium match MENTAL RETARDATION, AUTOSOMAL DOMINANT 57; MRD57


MRD57 is an autosomal dominant neurodevelopmental disorder with a highly variable phenotype. Most affected individuals have delayed psychomotor development apparent in infancy or early childhood, language delay, and behavioral abnormalities. Additional features may include hypotonia, feeding problems, gastrointestinal issues, and dysmorphic facial features (summary by Reijnders et al., 2018).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 57; MRD57

Medium match MACHADO-JOSEPH DISEASE; MJD


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 Ptosis and Anxiety

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

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Dysarthria Nystagmus Depressivity Tremor Dystonia Hyperactivity High palate Behavioral abnormality Ataxia Spasticity Delayed speech and language development Feeding difficulties Cognitive impairment Pointed chin Hyperreflexia Dysphagia Hyperphenylalaninemia Gait ataxia Hypertelorism Abnormal facial shape Microcephaly Epicanthus Gait disturbance Hypertonia Abnormality of the eye Bradykinesia Hallucinations Unsteady gait Abnormality of eye movement Rigidity Upslanted palpebral fissure Motor delay Babinski sign Progressive neurologic deterioration Parkinsonism Myoclonus

Rare Symptoms - Less than 30% cases


Aggressive behavior Truncal ataxia Abnormality of extrapyramidal motor function Growth delay Oculogyric crisis Excessive salivation Pain Limb hypertonia Short stature Abnormal autonomic nervous system physiology Cryptorchidism Diarrhea Gliosis Craniosynostosis Posteriorly rotated ears Confusion Abnormality of the skeletal system Diplopia Joint hypermobility Attention deficit hyperactivity disorder Blepharophimosis Delusions Micrognathia Obsessive-compulsive behavior Flexion contracture Cafe-au-lait spot Broad-based gait Delayed myelination Facial asymmetry Broad forehead Telecanthus High forehead Absent speech Short nose Ventriculomegaly Visual impairment Impulsivity Abnormal pyramidal sign Constipation Postural instability Encephalopathy Scoliosis Muscular hypotonia Ophthalmoplegia Downslanted palpebral fissures Hyperhidrosis Muscular hypotonia of the trunk Irritability External ophthalmoplegia Fever Abnormality of movement Choreoathetosis Involuntary movements Progressive external ophthalmoplegia Hyperkinesis Ophthalmoparesis Bilateral ptosis Thin upper lip vermilion Proptosis Fatigue Prominent forehead Drooling Supranuclear ophthalmoplegia Gingivitis Bruxism Episodic ataxia Methylmalonic aciduria Akinesia Abnormal urinary color Mood changes Delirium Glossitis Neural tube defect Insomnia Glabellar reflex Grasp reflex Dysmetric saccades Neutral hyperaminoaciduria Restless legs Brachydactyly Irregular hyperpigmentation Inflammatory abnormality of the skin Emotional lability Vertigo Hydrocephalus Headache Gastroesophageal reflux Facial-lingual fasciculations Photophobia Palatal myoclonus EEG abnormality Skin rash Malabsorption Impaired horizontal smooth pursuit Downbeat nystagmus Encephalitis Cirrhosis Hepatic steatosis Migraine Aciduria Abnormal blistering of the skin Psychosis Cutaneous photosensitivity Chronic diarrhea Aminoaciduria Hypopigmented skin patches Abnormality of vision Hypometric saccades Autism Myopia Muscle cramps Peripheral neuropathy Skeletal muscle atrophy Optic atrophy Cerebellar atrophy Dementia Diabetes mellitus Leukemia Distal amyotrophy Sensory neuropathy Neurodegeneration Polyneuropathy Mild intrauterine growth retardation Microtia, first degree Abnormal cerebellum morphology Decreased number of peripheral myelinated nerve fibers Progressive cerebellar ataxia Gaze-evoked nystagmus Neuronal loss in central nervous system Amyotrophic lateral sclerosis Impaired vibratory sensation Limb ataxia Fasciculations Back pain Spinal muscular atrophy Tall chin Hyperventilation Kyphosis Prominent nasal bridge Midface retrusion Narrow mouth Torsion dystonia Chronic pain Pes planus Dilated fourth ventricle Low back pain Myokymia Olivopontocerebellar atrophy Autistic behavior Microtia Tongue fasciculations Toe walking Spastic dysarthria Spinocerebellar tract degeneration Absent Achilles reflex Urinary bladder sphincter dysfunction Atrophy/Degeneration affecting the brainstem Long face Broad nasal tip Otitis media Hypertrichosis Recurrent otitis media Hoarse voice Hearing impairment Precocious puberty Lacrimal duct stenosis Clonus Limb dystonia Episodic fever Infantile encephalopathy Muscle weakness Talipes equinovarus Small for gestational age Poor speech Dyskinesia Sleep disturbance Apraxia Horizontal nystagmus Opisthotonus Muscle stiffness Oculomotor apraxia Cerebral palsy Postural tremor Athetosis Agitation Drowsiness Generalized dystonia Hypomimic face Abnormality of the nose Abnormality of the tongue Hypokinesia Poor suck Excessive daytime sleepiness Thin skin Myopathy Hyporeflexia Glaucoma Exercise intolerance Increased muscle fatiguability Multiple mitochondrial DNA deletions Neoplasm Depressed nasal bridge Wide nasal bridge Overgrowth Cerebral calcification Tall stature Torticollis Hyperextensible skin Prominent supraorbital ridges Narrow nasal bridge Fragile skin Thoracolumbar scoliosis Long foot Xanthelasma Auditory hallucinations Lethargy Intellectual disability, progressive Severe muscular hypotonia Hypersomnia Temperature instability Periorbital fullness Horizontal eyebrow Thick vermilion border Tapered finger Round face Stereotypy Insulin resistance Delayed gross motor development Easy fatigability Polycystic ovaries Cavum septum pellucidum Long toe Intrauterine growth retardation Thin vermilion border Abnormality of the dentition Malar flattening Hypothyroidism Joint laxity Abnormality of the pinna Abnormality of the cerebral white matter Waddling gait Thick lower lip vermilion Sparse eyebrow Long fingers Esophageal atresia Thick eyebrow Synophrys Transient hyperphenylalaninemia Deep philtrum Respiratory insufficiency Hypoplasia of the corpus callosum Edema Neonatal hypotonia Apnea Dolichocephaly Esotropia Epileptic encephalopathy Open mouth Cerebral visual impairment CNS hypomyelination Overlapping toe Hypermetropia Myopathic facies Neurodevelopmental delay Facial hypotonia Anteverted nares Long philtrum Syndactyly Obesity Clinodactyly Macrotia Deeply set eye Short philtrum Abnormal electrooculogram



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Hepatomegaly and Pes cavus, related diseases and genetic alterations Tremor and Short palpebral fissure, related diseases and genetic alterations High palate and Finger syndactyly, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more