Fever, and Hyperactivity

Diseases related with Fever and Hyperactivity

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

Top matches:

Female restricted epilepsy with intellectual disability is a rare X-linked epilepsy syndrome characterized by febrile or afebrile seizures (mainly tonic-clonic, but also absence, myoclonic, and atonic) starting in the first years of life and, in most cases, developmental delay and intellectual disability of variable severity. Behavioral disturbances (e.g. autistic features, hyperactivity, and aggressiveness) are also frequently associated. This disease affects exclusively females, with male carriers being unaffected, despite an X-linked inheritance.

FEMALE RESTRICTED EPILEPSY WITH INTELLECTUAL DISABILITY Is also known as juberg-hellman syndrome|efmr|epilepsy, female-restricted, with mental retardation

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about FEMALE RESTRICTED EPILEPSY WITH INTELLECTUAL DISABILITY

High match DRAVET SYNDROME

Dravet syndrome (DS) is a genetic epilepsy of childhood characterized by a variety of drug-resistant seizures often induced by fever, presenting in previously healthy children, and which frequently leads to cognitive and motor impairment.

DRAVET SYNDROME Is also known as smei|severe myoclonus epilepsy of infancy|ds|severe myoclonic epilepsy of infancy|dravet syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about DRAVET SYNDROME

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

Other less relevant matches:

Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome is a rare genetic neurological disorder characterized by intrauterine growth retardation, failure to thrive, infantile onset of sensorineural deafness, severe global developmental delay or absent psychomotor development, paraplegia or quadriplegia with dystonia and pyramidal signs, microcephaly, ocular abnormalities (strabismus, optic atrophy), mildly dysmorphic features (deep-set eyes, prominent nasal bridge, micrognathia), seizures and abnormalities of brain morphology (hypomyelinating white matter changes, cerebral atrophy).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Microcephaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about SEVERE MOTOR AND INTELLECTUAL DISABILITIES-SENSORINEURAL DEAFNESS-DYSTONIA SYNDROME

A rare, genetic, neurological disease characterized by association of macrocephaly, dysmorphic facial features and psychomotor delay leading to intellectual disability and autism spectrum disorder. Facial dysmorphism may include frontal bossing, hypertelorism, midface hypoplasia, depressed nasal bridge, short nose, and long philtrum.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hypertelorism
  • Neoplasm
  • Depressed nasal bridge


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MACROCEPHALY-INTELLECTUAL DISABILITY-AUTISM SYNDROME

Hypomyelination with atrophy of basal ganglia and cerebellum (H-ABC) is characterized by slowly progressive spasticity, extrapyramidal movement disorders (dystonia, choreoathetosis and rigidity), cerebellar ataxia, moderate to severe cognitive deficit, and anarthria/dysarthria.

HYPOMYELINATION WITH ATROPHY OF BASAL GANGLIA AND CEREBELLUM Is also known as leukodystrophy, hypomyelinating, with atrophy of the basal ganglia and cerebellum|habc|h-abc

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about HYPOMYELINATION WITH ATROPHY OF BASAL GANGLIA AND CEREBELLUM

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about CYCLIC VOMITING SYNDROME; CVS

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

Classic maple syrup urine disease (classic MSUD) is the most severe and probably common form of MSUD (see this term) characterized by a maple syrup odor in the cerumen at birth, poor feeding, lethargy and focal dystonia, followed by progressive encephalopathy and central respiratory failure if untreated.

CLASSIC MAPLE SYRUP URINE DISEASE Is also known as keto acid decarboxylase deficiency|classic branched-chain ketoaciduria|classic branched-chain alpha-ketoacid dehydrogenase deficiency|classic msud|bckd deficiency|classic bckd deficiency|branched-chain ketoaciduria|branched-chain alpha-keto acid dehydroge

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about CLASSIC MAPLE SYRUP URINE DISEASE

Hereditary sensory and autonomic neuropathy, type 4 (HSAN4) is an inherited disorder characterized by anhidrosis, insensitivity to pain, self-mutilating behavior and episodes of fever.

HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE 4 Is also known as hsan iv|hsan4|cip-anhidrosis syndrome|neuropathy, congenital sensory, with anhidrosis|hereditary sensory and autonomic neuropathy type iv|hereditary sensory and autonomic neuropathy iv|familial dysautonomia, type ii|congenital insensitivity to pain-anhidr

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE 4

Top 5 symptoms//phenotypes associated to Fever and Hyperactivity

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Global developmental delay Very Common - Between 80% and 100% cases
Seizures Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Ataxia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Fever and Hyperactivity. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Behavioral abnormality Strabismus Motor delay Muscular hypotonia Microcephaly Autism Attention deficit hyperactivity disorder Encephalopathy Spasticity Cognitive impairment Dystonia Autistic behavior Irritability Vomiting Opisthotonus Tetraplegia Feeding difficulties Hearing impairment Hyperhidrosis Delayed speech and language development Tremor Anxiety Hyperreflexia Lethargy Episodic fever Febrile seizures Pain

Rare Symptoms - Less than 30% cases

Depressivity Recurrent infections EEG abnormality Involuntary movements Dysarthria Fatigue Hypertonia Babinski sign Abnormality of eye movement Constipation Choreoathetosis Rigidity Broad forehead Short stature Decreased antibody level in blood Postural instability Optic atrophy Muscular hypotonia of the trunk Abnormal facial shape Cerebellar atrophy Impulsivity Cerebral atrophy Aggressive behavior Developmental regression Generalized tonic-clonic seizures Generalized myoclonic seizures Focal-onset seizure Epileptic encephalopathy Status epilepticus Cutaneous photosensitivity Absence seizures Atonic seizures Headache Growth delay Hemiclonic seizures Intellectual disability, severe Cerebral hypomyelination Obsessive-compulsive behavior Abnormality of extrapyramidal motor function Spastic tetraplegia Abnormal pyramidal sign CNS hypomyelination Nausea and vomiting Abnormal autonomic nervous system physiology Mental deterioration Migraine Nausea Feeding difficulties in infancy Ophthalmoplegia Broad-based gait Hepatic failure Acidosis Lactic acidosis Weight loss Osteoporosis Respiratory failure Hypoglycemia Hypertension Gastroesophageal reflux Small nail Brachydactyly Abdominal pain Photophobia Pallor Vertigo Anorexia Exercise intolerance Abnormality of mitochondrial metabolism Gastrointestinal dysmotility Low-set ears Myopia Short foot Anteverted nares Atrial septal defect Posteriorly rotated ears Otitis media Thin upper lip vermilion Low-set, posteriorly rotated ears Hyperlordosis Wide mouth Hypermetropia Small hand Coma Corneal opacity Hepatitis Poor wound healing Anhidrosis Osteomyelitis Bowel incontinence Impaired pain sensation Aseptic necrosis Self-mutilation Heat intolerance Lack of skin elasticity Recurrent corneal erosions Lichenification Emotional lability Pain insensitivity Corneal scarring Hypotrichosis of the scalp Abnormality of dental color Corneal ulceration Palmar hyperkeratosis Acral ulceration Neuropathic arthropathy Autoamputation of digits Decreased number of small peripheral myelinated nerve fibers Keratitis Self-injurious behavior Hallucinations Increased level of hippuric acid in urine Pancreatitis Cerebral palsy Increased intracranial pressure Growth abnormality Ketosis Ketoacidosis Ketonuria Episodic ataxia Cerebral edema Elevated plasma branched chain amino acids Opacification of the corneal stroma Peripheral neuropathy Hyporeflexia Hyperkeratosis Hip dislocation Nail dystrophy Carious teeth Sensory neuropathy Nail dysplasia Thickened skin Skin ulcer Diarrhea Biparietal narrowing Myopathy Hyperkinesis Abnormality of movement Parkinsonism Bradykinesia Progressive neurologic deterioration Intellectual disability, progressive Severe muscular hypotonia Torticollis Drooling Poor suck Dysphagia Hypokinesia Limb dystonia Limb hypertonia Excessive salivation Infantile encephalopathy Oculogyric crisis Hyperphenylalaninemia Failure to thrive Sensorineural hearing impairment Abnormality of the eye Gait disturbance Cerebral cortical atrophy Generalized-onset seizure Psychosis Hyperventilation Bruxism Intermittent hyperventilation Myoclonus Stroke Severe global developmental delay Abnormal cerebellum morphology Postnatal microcephaly Ptosis Cerebral visual impairment Progressive microcephaly Focal impaired awareness seizure Neurodevelopmental delay Generalized tonic-clonic seizures with focal onset Multifocal seizures Focal clonic seizures Psychomotor retardation Obtundation status Intrauterine growth retardation Elevated hepatic transaminase Cardiomyopathy Frequent falls Absent speech Difficulty walking Poor speech Dysmetria Unsteady gait Falls Polyneuropathy Specific learning disability Lower limb spasticity Nystagmus Leukodystrophy Paraparesis Spastic paraparesis Oral-pharyngeal dysphagia Toe walking Cerebellar vermis atrophy Motor deterioration Rotary nystagmus Muscle weakness Visual impairment Postnatal macrocephaly Brain atrophy Immunodeficiency Corpus callosum atrophy Cerebral white matter atrophy Hypertelorism Neoplasm Depressed nasal bridge Macrocephaly Frontal bossing Short nose Long philtrum Midface retrusion Increased head circumference Obesity Pneumonia Hepatosplenomegaly Scoliosis Lymphadenopathy Pancytopenia Lymphopenia Combined immunodeficiency Severe combined immunodeficiency Postural hypotension with compensatory tachycardia


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