Failure to thrive, and Encephalopathy

Diseases related with Failure to thrive and Encephalopathy

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

Top matches:

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Microcephaly
  • Growth delay
  • Failure to thrive


SOURCES: OMIM MENDELIAN

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22; COXPD22

N-acetylglutamate synthase (NAGS) deficiency is a urea cycle disorder leading to hyperammonaemia.

HYPERAMMONEMIA DUE TO N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY Is also known as hyperammonemia due to n-acetylglutamate synthetase deficiency|n-acetylglutamate synthetase deficiency|nags deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Failure to thrive
  • Cognitive impairment
  • Feeding difficulties


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about HYPERAMMONEMIA DUE TO N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY

COXPD34 is an autosomal recessive disorder resulting from a defect in mitochondrial function. The phenotype is variable, but may include congenital sensorineural deafness, increased serum lactate, and hepatic and renal dysfunction. Neurologic function is relatively preserved (summary by Menezes et al., 2015).For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (OMIM ).

SYNDROMIC SENSORINEURAL DEAFNESS DUE TO COMBINED OXIDATIVE PHOSPHORYLATION DEFECT Is also known as syndromic sensorineural deafness due to coxpd|syndromic sensorineural hearing loss due to coxpd

Related symptoms:

  • Hearing impairment
  • Failure to thrive
  • Sensorineural hearing impairment
  • Hepatomegaly
  • Vomiting


SOURCES: ORPHANET OMIM MENDELIAN

More info about SYNDROMIC SENSORINEURAL DEAFNESS DUE TO COMBINED OXIDATIVE PHOSPHORYLATION DEFECT

Other less relevant matches:

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 62; EIEE62

Severe neonatal-onset encephalopathy with microcephaly is a rare monogenic disease with epilepsy characterized by neonatal-onset encephalopathy, microcephaly, severe developmental delay or absent development, breathing abnormalities (including central hypoventilation and/or respiratory insufficiency), intractable seizures, abnormal muscle tone and involuntary movements. Early death is usual.

SEVERE NEONATAL-ONSET ENCEPHALOPATHY WITH MICROCEPHALY Is also known as severe congenital encephalopathy due to mecp2 mutation

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about SEVERE NEONATAL-ONSET ENCEPHALOPATHY WITH MICROCEPHALY

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 29; EIEE29

MGCA9 is an autosomal recessive disorder characterized by early-onset seizures, severely delayed psychomotor development and intellectual disability. Patients have hypotonia or spasticity, and laboratory investigations show increased serum lactate and 3-methylglutaconic aciduria, suggestive of a mitochondrial defect (summary by Shahrour et al., 2017).For a phenotypic description and a discussion of genetic heterogeneity of 3-methylglutaconic aciduria, see MGCA type I (OMIM ).

3-METHYLGLUTACONIC ACIDURIA TYPE 9 Is also known as 3-methylglutaconic aciduria-epilepsy-spasticity-severe intellectual disability syndrome|mga9

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive


SOURCES: OMIM ORPHANET MENDELIAN

More info about 3-METHYLGLUTACONIC ACIDURIA TYPE 9

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 44; EIEE44

Multiple mitochondrial dysfunctions syndrome-6 is an autosomal recessive severe neurodegenerative disorder with onset in early childhood. Affected individuals may have initial normal development, but show neurologic regression in the first year of life. They have hypotonia, inability to walk, poor speech, intellectual disability, and motor abnormalities, such as ataxia, dystonia, and spasticity. Some patients may die in childhood. Laboratory evidence indicates that the disorder results from mitochondrial dysfunction (summary by Vogtle et al., 2018).For a general description and a discussion of genetic heterogeneity of multiple mitochondrial dysfunctions syndrome, see MMDS1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 6; MMDS6

Top 5 symptoms//phenotypes associated to Failure to thrive and Encephalopathy

Symptoms // Phenotype % cases
Seizures Very Common - Between 80% and 100% cases
Generalized hypotonia Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
Spasticity Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Failure to thrive and Encephalopathy. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Intellectual disability

Uncommon Symptoms - Between 30% and 50% cases

Absent speech Feeding difficulties Postnatal microcephaly Epileptic encephalopathy Dystonia Cerebral atrophy Vomiting Growth delay Hypoplasia of the corpus callosum Intellectual disability, severe Increased serum lactate Hypsarrhythmia

Rare Symptoms - Less than 30% cases

Inability to walk Polymicrogyria Hyperreflexia Abnormality of mitochondrial metabolism Gastroesophageal reflux Muscular hypotonia of the trunk Abnormality of the cerebral white matter Spastic tetraplegia Cerebellar atrophy Optic atrophy Intrauterine growth retardation Poor eye contact Hypoglycemia Short stature Hypertonia Leukoencephalopathy CNS hypomyelination Failure to thrive in infancy Dysarthria Delayed speech and language development Low-set ears Blepharospasm Diffuse cerebral atrophy 3-Methylglutaconic aciduria Delayed ability to walk Congenital microcephaly Muscle weakness Clonus Aciduria Brain atrophy Optic disc pallor Tremor Cerebral cortical atrophy Dysmetria Poor speech Developmental regression Visual loss Ataxia Progressive encephalopathy Opisthotonus Mask-like facies Athetosis Delayed myelination Generalized myoclonic seizures Irritability Nasogastric tube feeding in infancy Tetraplegia Abnormal CNS myelination Progressive spasticity Drooling Severe muscular hypotonia Broad-based gait Hypotelorism Narrow forehead Febrile seizures Generalized tonic-clonic seizures Spastic paraplegia Dyskinesia Difficulty walking Babinski sign Chorea Feeding difficulties in infancy Hip dislocation Tachypnea Hepatic failure Lactic acidosis Hypogonadism Renal insufficiency Hepatomegaly Sensorineural hearing impairment Hearing impairment Increased level of L-glutamic acid in blood Acute encephalopathy Hyperammonemia Coma Pancytopenia Confusion Lethargy Aggressive behavior Respiratory distress Visual impairment Cognitive impairment Hyperalaninemia Pulmonary arterial hypertension Congestive heart failure Hypertension Hepatic steatosis Decreased liver function Areflexia EEG abnormality Peripheral neuropathy Nystagmus Congenital encephalopathy Abnormal muscle tone Central hypoventilation Hypoventilation Intellectual disability, progressive Progressive microcephaly Apnea Rigidity Respiratory failure Hypergonadotropic hypogonadism Myoclonus Constipation Respiratory insufficiency Spastic tetraparesis Cerebral visual impairment Tetraparesis Blindness Dysphagia Primary adrenal insufficiency Congenital sensorineural hearing impairment Poor head control


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