Failure to thrive, and Gastroesophageal reflux

Diseases related with Failure to thrive and Gastroesophageal reflux

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

Top matches:

Related symptoms:

  • Generalized hypotonia
  • Growth delay
  • Failure to thrive
  • Feeding difficulties
  • Hepatomegaly


SOURCES: OMIM MENDELIAN

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 19; COXPD19

T-B+ SEVERE COMBINED IMMUNODEFICIENCY DUE TO IL-7RALPHA DEFICIENCY Is also known as scid, autosomal recessive, t cell-negative, b cell-positive, nk cell-positive|t-b+ scid due to il-7ralpha deficiency

Related symptoms:

  • Growth delay
  • Failure to thrive
  • Hepatomegaly
  • Fever
  • Diarrhea


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about T-B+ SEVERE COMBINED IMMUNODEFICIENCY DUE TO IL-7RALPHA DEFICIENCY

Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency is a rare inborn error of metabolism disease characterized by mild to moderate, persistent elevation of methylmalonic acid in plasma, urine and cerebrospinal fluid. Clinical presentation may include acute metabolic decompensation with metabolic acidosis (presenting with vomiting, dehydration, confusion, hallucinations), nonspecific neurological symptoms, or may also be asymptomatic.

METHYLMALONIC ACIDEMIA DUE TO METHYLMALONYL-COA EPIMERASE DEFICIENCY Is also known as methylmalonic acidemia due to methylmalonyl-coa racemase deficiency|methylmalonyl-coa racemase deficiency|methylmalonic aciduria due to methylmalonyl-coa racemase deficiency|methylmalonic aciduria due to methylmalonyl-coa epimerase deficiency|mcee deficie

Related symptoms:

  • Failure to thrive
  • Spasticity
  • Motor delay
  • Macrocephaly
  • Hydrocephalus


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about METHYLMALONIC ACIDEMIA DUE TO METHYLMALONYL-COA EPIMERASE DEFICIENCY

Other less relevant matches:

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

COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 30 Is also known as coxpd30

Related symptoms:

  • Generalized hypotonia
  • Hearing impairment
  • Failure to thrive
  • Feeding difficulties
  • Respiratory failure


SOURCES: OMIM ORPHANET MENDELIAN

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 30

High match HADDAD SYNDROME

Haddad syndrome is a rare congenital disorder in which congenital central hypoventilation syndrome (CCHS), or Ondine syndrome, occurs concurrently with Hirschsprung disease (see these terms).

HADDAD SYNDROME Is also known as congenital central alveolar hypoventilation-hirschsprung disease syndrome|ondine-hirschsprung syndrome|ondine-hirschsprung disease

Related symptoms:

  • Intellectual disability
  • Seizures
  • Failure to thrive
  • Strabismus
  • Sensorineural hearing impairment


SOURCES: ORPHANET MENDELIAN

More info about HADDAD SYNDROME

Related symptoms:

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


SOURCES: OMIM MENDELIAN

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

Congenital short bowel syndrome is a rare intestinal disorder of neonates of unknown etiology. Patients are born with a short small bowel (less than 75 cm in length) that compromises proper intestinal absorption and leads chronic diarrhea, vomiting and failure to thrive.

Related symptoms:

  • Short stature
  • Failure to thrive
  • Cognitive impairment
  • Vomiting
  • Diarrhea


SOURCES: ORPHANET OMIM MENDELIAN

More info about CONGENITAL SHORT BOWEL SYNDROME

Congenital nephrotic syndrome, Finnish type is characterised by protein loss beginning during foetal life.

CONGENITAL NEPHROTIC SYNDROME, FINNISH TYPE Is also known as cnf|finnish congenital nephrosis|nephrotic syndrome, congenital

Related symptoms:

  • Growth delay
  • Failure to thrive
  • Edema
  • Renal insufficiency
  • Recurrent infections


SOURCES: ORPHANET OMIM MENDELIAN

More info about CONGENITAL NEPHROTIC SYNDROME, FINNISH TYPE

Top 5 symptoms//phenotypes associated to Failure to thrive and Gastroesophageal reflux

Symptoms // Phenotype % cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Feeding difficulties Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Growth delay Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Acidosis Vomiting Diarrhea Spasticity

Rare Symptoms - Less than 30% cases

Dystonia Respiratory failure Global developmental delay Microcephaly Aganglionic megacolon Intellectual disability, severe Encephalopathy Pyloric stenosis Muscular hypotonia of the trunk Polymicrogyria Postnatal microcephaly Poor eye contact Central hypoventilation Strabismus Cognitive impairment Abdominal distention Generalized myoclonic seizures Delayed myelination Short stature Macrocephaly Small for gestational age Elevated hepatic transaminase Increased body weight Lactic acidosis Hepatomegaly Hypotrichosis Athetosis Mask-like facies Opisthotonus Progressive encephalopathy Respiratory tract infection Malabsorption Elevated amniotic fluid alpha-fetoprotein Sepsis Intestinal malrotation Mesangial hypercellularity Congenital nephrotic syndrome Hepatic failure Podocyte foot process effacement Hypsarrhythmia Hemivertebrae Irritability Cerebral cortical atrophy Absent speech Cerebral atrophy Hypertonia Cerebellar atrophy Hypoplasia of the corpus callosum Ganglioneuroma Central sleep apnea Breathing dysregulation Neuroblastoma Abnormal autonomic nervous system physiology Chronic diarrhea Delayed eruption of permanent teeth Steroid-resistant nephrotic syndrome Hypoalbuminemia Abnormality of the kidney Confusion Stage 5 chronic kidney disease Proteinuria Hypothyroidism Recurrent infections Renal insufficiency Edema Abnormal peristalsis Decreased intestinal transit time Nephrotic syndrome Hyperlipidemia Hypercholesterolemia Intestinal hypoplasia Glomerulosclerosis Scarring Neonatal respiratory distress Displacement of the external urethral meatus Absent hand Focal segmental glomerulosclerosis Gastroparesis Volvulus Tubular atrophy Lipoatrophy Steatorrhea Hypoproteinemia Abnormality of the renal tubule Malnutrition Dextrocardia Diffuse mesangial sclerosis Congenital shortened small intestine Delayed gross motor development Decreased fetal movement Decrease in T cell count Respiratory insufficiency Hyperreflexia Methylmalonic acidemia Methylmalonic aciduria Ketonuria Tachypnea Dehydration Aciduria Metabolic acidosis Hydrocephalus Motor delay Failure to thrive secondary to recurrent infections Recurrent opportunistic infections Oral ulcer Severe combined immunodeficiency Myoclonus Hepatosplenomegaly Respiratory distress Neonatal hypotonia Hepatic steatosis Severe lactic acidosis Fever Splenomegaly Skin rash Recurrent otitis media Cough Lymphadenopathy Otitis media Eczema Pancytopenia Inflammatory abnormality of the skin Constipation EEG abnormality Oligohydramnios Long face Polyhydramnios Muscular hypotonia Sensorineural hearing impairment Hyperalaninemia Increased CSF lactate Ragged-red muscle fibers Decreased liver function Left ventricular hypertrophy Ventricular hypertrophy Increased serum lactate Abnormality of the liver Hearing impairment Postnatal macrocephaly Focal-onset seizure Poor speech Rigidity Congenital encephalopathy Apnea Feeding difficulties in infancy Progressive microcephaly Intellectual disability, progressive Hypoventilation Abnormal muscle tone Tremor Neurological speech impairment Frontal bossing Hyperactivity Deeply set eye Hyperlordosis Microtia Broad forehead Heavy proteinuria


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