Flexion contracture, and Focal seizures, afebril

Diseases related with Flexion contracture and Focal seizures, afebril

In the following list you will find some of the most common rare diseases related to Flexion contracture and Focal seizures, afebril that can help you solving undiagnosed cases.

Top matches:

Mucopolysaccharidosis type 2 (MPS2, see this term), severe form (MPS2S), is associated with a massive accumulation of glycosaminoglycans and a wide variety of symptoms including a rapidly progressive cognitive decline; it is most often fatal in the second or third decade.

MUCOPOLYSACCHARIDOSIS TYPE 2, SEVERE FORM Is also known as mucopolysaccharidosis type ii, severe form|mps2a|iduronate 2-sulfatase deficiency type a|mucopolysaccharidosis type 2a|hunter syndrome type a|mpsiia|mucopolysaccharidosis type iia

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS TYPE 2, SEVERE FORM

Benign familial infantile seizure is an autosomal dominant disorder characterized by afebrile partial complex or generalized tonic-clonic seizures occurring between 3 and 12 months of age with a good response to medication and no neurologic sequelae. Seizures usually remit by age 18 months (summary by Weber et al., 2004).For a general phenotypic description and a discussion of genetic heterogeneity of benign familial infantile seizures, see BFIS1 (OMIM ).Benign familial infantile seizures can also occur in 2 allelic disorders: infantile convulsions and choreoathetosis (ICCA ) and paroxysmal kinesigenic choreoathetosis (EKD1 ).

SEIZURES, BENIGN FAMILIAL INFANTILE, 2; BFIS2 Is also known as bfic2|convulsions, benign familial infantile, 2

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Pallor
  • Generalized tonic-clonic seizures
  • Dyskinesia


SOURCES: MESH OMIM MENDELIAN

More info about SEIZURES, BENIGN FAMILIAL INFANTILE, 2; BFIS2

Benign familial neonatal-infantile seizures is an autosomal dominant disorder in which afebrile seizures occur in clusters during the first year of life, without neurologic sequelae (Shevell et al., 1986).For a general phenotypic description and a discussion of genetic heterogeneity of benign familial infantile seizures, see BFIS1 (OMIM ).BFIS1 has a slightly later onset than BFIS3, while benign neonatal seizures (see BFNS1, {121200}) has a slightly earlier onset.

SEIZURES, BENIGN FAMILIAL INFANTILE, 3; BFIS3 Is also known as bfic3|bfnis|convulsions, benign familial infantile, 3|seizures, benign familial neonatal-infantile

Related symptoms:

  • Seizures
  • Fever
  • Apnea
  • Focal-onset seizure
  • Febrile seizures


SOURCES: OMIM MENDELIAN

More info about SEIZURES, BENIGN FAMILIAL INFANTILE, 3; BFIS3

Other less relevant matches:

Infantile Convulsions and paroxysmal ChoreoAthetosis (ICCA) syndrome is a neurological condition characterized by the occurrence of seizures during the first year of life (Benign familial infantile epilepsy ; see this term) and choreoathetotic dyskinetic attacks during childhood or adolescence.

INFANTILE CONVULSIONS AND CHOREOATHETOSIS Is also known as paroxysmal kinesigenic dyskinesia and infantile convulsions|icca syndrome|pkd/ic|infantile convulsions and paroxysmal choreoathetosis, familial|paroxysmal kinesigenic dyskinesia with infantile convulsions

Related symptoms:

  • Seizures
  • Ataxia
  • Dystonia
  • Anxiety
  • Apnea


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about INFANTILE CONVULSIONS AND CHOREOATHETOSIS

TREMOR-ATAXIA-CENTRAL HYPOMYELINATION SYNDROME Is also known as tach syndrome

Related symptoms:

  • Global developmental delay
  • Short stature
  • Ataxia
  • Nystagmus
  • Spasticity


SOURCES: ORPHANET MENDELIAN

More info about TREMOR-ATAXIA-CENTRAL HYPOMYELINATION SYNDROME

Autosomal recessive hypomyelinating leukodystrophy-3 (HLD3) is a severe neurologic disorder characterized by early infantile onset of global developmental delay, lack of development, lack of speech acquisition, and peripheral spasticity associated with decreased myelination in the central nervous system (summary by Feinstein et al., 2010).The disorder is phenotypically similar to X-linked Pelizaeus-Merzbacher disease (PMD ), which is caused by mutation in the PLP1 gene (OMIM ). For a general phenotypic description and a discussion of genetic heterogeneity of HLD, see {312080}.

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about PELIZAEUS-MERZBACHER-LIKE DISEASE DUE TO AIMP1 MUTATION

Spastic quadriplegia-52 is an autosomal recessive neurodevelopmental disorder characterized by neonatal hypotonia that progresses to hypertonia and spasticity and severe mental retardation with poor or absent speech development (summary by Abou Jamra et al., 2011). Some patients may have seizures (Hardies et al., 2015).

SPASTIC PARAPLEGIA 52, AUTOSOMAL RECESSIVE; SPG52 Is also known as cerebral palsy, spastic quadriplegic, 6, formerly|cpsq6, formerly

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about SPASTIC PARAPLEGIA 52, AUTOSOMAL RECESSIVE; SPG52

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 41; EIEE41

Hypomyelinating leukodystrophy-12 is an autosomal recessive neurologic disorder characterized by severely delayed or even lack of psychomotor development that becomes apparent in the first months of life. Patients are markedly disabled, with acquired microcephaly, lack of speech, and often lack of spontaneous movement due to hypotonia and spasticity. Brain imaging shows delayed myelination (summary by Edvardson et al., 2015).For a general phenotypic description and a discussion of genetic heterogeneity of HLD, see {312080}.

VPS11-RELATED AUTOSOMAL RECESSIVE HYPOMYELINATING LEUKODYSTROPHY Is also known as vps11-related autosomal recessive hypomyelinating leukoencephalopathy

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about VPS11-RELATED AUTOSOMAL RECESSIVE HYPOMYELINATING LEUKODYSTROPHY

Benign familial neonatal epilepsy (BFNE) is a rare genetic epilepsy syndrome characterized by the occurrence of afebrile seizures in otherwise healthy newborns with onset in the first few days of life.

BENIGN FAMILIAL NEONATAL EPILEPSY Is also known as bfns|benign familial neonatal convulsions|benign familial neonatal seizures

Related symptoms:

  • Seizures
  • Cognitive impairment
  • Hypertonia


SOURCES: ORPHANET MENDELIAN

More info about BENIGN FAMILIAL NEONATAL EPILEPSY

Top 5 symptoms//phenotypes associated to Flexion contracture and Focal seizures, afebril

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

Other less frequent symptoms

Patients with Flexion contracture and Focal seizures, afebril. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Spasticity Febrile seizures Microcephaly Coarse facial features Absent speech Developmental regression Hypertonia Kyphoscoliosis Muscular hypotonia of the trunk Focal impaired awareness seizure Cyanosis Visual impairment Short stature Hearing impairment Dystonia Optic atrophy CNS hypomyelination Apnea Leukodystrophy Hypoplasia of the corpus callosum

Rare Symptoms - Less than 30% cases

Tetraparesis Hypsarrhythmia Muscle fibrillation Nystagmus Growth delay Hyperreflexia Choreoathetosis Hepatosplenomegaly Delayed myelination Migraine Cerebral atrophy Generalized-onset seizure Dyskinesia Ataxia Severe global developmental delay Normal interictal EEG Babinski sign Cerebral visual impairment Corpus callosum atrophy Progressive spastic paraparesis Severe failure to thrive Progressive flexion contractures Ankle clonus Rapid neurologic deterioration Rotary nystagmus Premature birth Decreased muscle mass Arthrogryposis multiplex congenita High myoinositol in brain by MRS Failure to thrive Vomiting Myoclonus EEG abnormality Rigidity Abnormal pyramidal sign Polymicrogyria Global brain atrophy Gliosis Brain atrophy Neuronal loss in central nervous system Progressive neurologic deterioration Clonus Paraparesis Spastic paraparesis Spastic tetraparesis Projectile vomiting Talipes equinovarus Sudanophilic leukodystrophy Poor speech Inability to walk Tapered finger Generalized myoclonic seizures Epileptic encephalopathy Intellectual disability, profound Nephrocalcinosis Focal motor seizures Sensorineural hearing impairment Ventriculomegaly Cerebellar atrophy Constipation Reduced visual acuity Postnatal microcephaly Abnormality of movement Abnormal autonomic nervous system physiology Multiple joint contractures Abnormality of the periventricular white matter Central hypotonia Limb hypertonia Developmental stagnation Delayed CNS myelination Neurogenic bladder Cerebral hypomyelination Diffuse white matter abnormalities Temperature instability Oromotor apraxia Hirsutism Lethargy Diffuse cerebral sclerosis Talipes Hypertelorism High palate Motor delay Wide nasal bridge Autonomic bladder dysfunction Hydrocephalus Intellectual disability, severe Neonatal hypotonia Wide mouth Short philtrum Spastic paraplegia Paraplegia Bulbous nose Irritability Thick vermilion border Highly arched eyebrow Tetraplegia Prominent nose Spastic tetraplegia Cerebral palsy Spastic diplegia Facial hypotonia Loss of ability to walk Simple febrile seizures Feeding difficulties Blindness Impaired distal proprioception Hypodontia Abnormality of ocular smooth pursuit Recurrent upper respiratory tract infections Mitral valve prolapse Pulmonary arterial hypertension Recurrent otitis media Mitral regurgitation Abnormality of the face Thickened skin Progressive hearing impairment Tachypnea Increased intracranial pressure Heart murmur Limitation of joint mobility Pericardial effusion Protruding tongue Distal arthrogryposis Protuberant abdomen Insomnia Abnormality of the skull Edema of the lower limbs Beaking of vertebral bodies Communicating hydrocephalus Increased mean corpuscular volume Abnormality of the cardiovascular system Macroglossia Inspiratory stridor Kyphosis Low-set ears Depressed nasal bridge Hepatomegaly Macrocephaly Frontal bossing Abnormality of the skeletal system Anteverted nares Short neck Edema Behavioral abnormality Inguinal hernia Ascites Prominent forehead Hyperactivity Proptosis Mandibular prognathia Dyspnea Umbilical hernia Aggressive behavior Postnatal growth retardation Joint stiffness Tachycardia Thoracolumbar kyphosis Hypochromic anemia Vertical supranuclear gaze palsy Delayed eruption of teeth Paroxysmal choreoathetosis Peripheral neuropathy Myopia Dysphagia Intellectual disability, mild Cerebellar hypoplasia Cerebral cortical atrophy Deeply set eye Delayed puberty Dysmetria Intention tremor Paroxysmal dyskinesia Clumsiness Hypogonadotrophic hypogonadism Drooling Oligodontia Postural tremor Impaired vibration sensation in the lower limbs Spastic dysarthria Upper motor neuron dysfunction Abnormality of the basal ganglia Positive Romberg sign Paroxysmal dystonia Writer's cramp Hyperplasia of the maxilla Intervertebral space narrowing Abnormality of the optic disc J-shaped sella turcica Obstructive lung disease Morphological abnormality of the central nervous system Heparan sulfate excretion in urine Urinary glycosaminoglycan excretion Anisopoikilocytosis Short digit Abnormality of mucopolysaccharide metabolism Dermatan sulfate excretion in urine Dysplastic aortic valve Stereotypy Localized skin lesion Abnormality of nasopharyngeal adenoids Pallor Generalized tonic-clonic seizures Loss of consciousness Fever Atonic seizures Generalized tonic-clonic seizures with focal onset Anxiety Involuntary movements Cognitive impairment


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