Failure to thrive, and Peripheral neuropathy

Diseases related with Failure to thrive and Peripheral neuropathy

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

Top matches:

A very rare disorder caused by mutation in the SCN11A gene. Affected individuals are unable to experience pain since birth resulting in self-inflicted injuries.

HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE 7 Is also known as hereditary sensory and autonomic neuropathy with hyperhidrosis and gastrointestinal dysfunction|cip with hyperhidrosis and gastrointestinal dysfunction|hsan with hyperhidrosis and gastrointestinal dysfunction|congenital insensitivity to pain with hyperhid

Related symptoms:

  • Generalized hypotonia
  • Failure to thrive
  • Muscle weakness
  • Pain
  • Motor delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE 7

Chylomicron retention disease is an autosomal recessive disorder of severe fat malabsorption associated with failure to thrive in infancy (Dannoura et al., 1999).

FAMILIAL LIPOPROTEIN LIPASE DEFICIENCY Is also known as lpl deficiency|anderson disease|andd|lipid transport defect of intestine|hypobetalipoproteinemia with accumulation of apolipoprotein b-like protein in intestinal cells

Related symptoms:

  • Intellectual disability
  • Ataxia
  • Growth delay
  • Failure to thrive
  • Peripheral neuropathy


SOURCES: ORPHANET OMIM MENDELIAN

More info about FAMILIAL LIPOPROTEIN LIPASE DEFICIENCY

Porphyria of doss or deficiency of delta-aminolevulinic acid dehydratase (DALAD) is an extremely rare form of acute hepatic porphyria (see this term) characterized by neuro-visceral attacks without cutaneous manifestations.

PORPHYRIA DUE TO ALA DEHYDRATASE DEFICIENCY Is also known as porphyria due to alad deficiency|doss porphyria|delta-aminolevulinate dehydratase deficiency|alad porphyria|porphyria, alad|porphyria of doss|alad deficiency|porphyria due to delta-aminolevulinate dehydratase deficiency|porphobilinogen synthase deficiency

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Failure to thrive
  • Muscular hypotonia
  • Pain


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about PORPHYRIA DUE TO ALA DEHYDRATASE DEFICIENCY

Other less relevant matches:

Congenital intrinsic factor deficiency (IFD) is a rare disorder of vitamin B12 (cobalamin) absorption that is characterized by megaloblastic anemia and neurological abnormalities.

CONGENITAL INTRINSIC FACTOR DEFICIENCY Is also known as intrinsic factor deficiency|ifd|hereditary juvenile megaloblastic anemia due to intrinsic factor deficiency|congenital pernicious anemia|gastric intrinsic factor deficiency|pernicious anemia, congenital, due to defect of intrinsic factor

Related symptoms:

  • Intellectual disability
  • Failure to thrive
  • Anemia
  • Fatigue
  • Abnormality of metabolism/homeostasis


SOURCES: ORPHANET OMIM MENDELIAN

More info about CONGENITAL INTRINSIC FACTOR DEFICIENCY

Chylomicron retention disease (CRD) is a type of familial hypocholesterolemia characterized by malnutrition, failure to thrive, growth failure, vitamin E deficiency and hepatic, neurologic and ophthalmologic complications.

CHYLOMICRON RETENTION DISEASE Is also known as crd|anderson disease|cmrd

Related symptoms:

  • Growth delay
  • Failure to thrive
  • Visual impairment
  • Myopathy
  • Vomiting


SOURCES: ORPHANET MENDELIAN

More info about CHYLOMICRON RETENTION DISEASE

Related symptoms:

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


SOURCES: OMIM MENDELIAN

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

Congenital bile acid synthesis defect type 1 (BAS defect type 1) is the most common anomaly of bile acid synthesis (see this term) characterized by variable manifestations of progressive cholestatic liver disease, and fat malabsorption.

CONGENITAL BILE ACID SYNTHESIS DEFECT TYPE 1 Is also known as basd1|3-beta-hydroxy-delta-5-c27-steroid oxidoreductase deficiency

Related symptoms:

  • Failure to thrive
  • Peripheral neuropathy
  • Hepatomegaly
  • Diarrhea
  • Splenomegaly


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about CONGENITAL BILE ACID SYNTHESIS DEFECT TYPE 1

Combined oxidative phosphorylation defect type 7 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by a variable phenotype that includes onset in infancy or early childhood of failure to thrive and psychomotor regression (after initial normal development), as well as ocular manifestations (such as ptosis, nystagmus, optic atrophy, ophthalmoplegia and reduced vision). Additional manifestations include bulbar paresis with facial weakness, hypotonia, difficulty chewing, dysphagia, mild dysarthria, ataxia, global muscle atrophy, and areflexia. It has a relatively slow disease progression with patients often living into the third decade of life.

COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 7 Is also known as severe c12orf65-related combined oxidative phosphorylation defect|severe c12orf65-related coxpd|coxpd7

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Nystagmus
  • Failure to thrive


SOURCES: OMIM ORPHANET MENDELIAN

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 7

Autosomal recessive axonal CMT2A2B is a neurologic disorder characterized by onset of peripheral neuropathy in the first years of life. Patients have difficulty walking due to distal muscle weakness; upper limbs may also be affected. Sensory impairment is more variable. Patients often have optic atrophy (summary by Polke et al., 2011).

Related symptoms:

  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis
  • Failure to thrive
  • Muscle weakness


SOURCES: OMIM MENDELIAN

More info about CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2A2B; CMT2A2B

Autosomal recessive spastic paraplegia type 53 (SPG53) is a very rare, complex type of hereditary spastic paraplegia characterized by early-onset spastic paraplegia (with spasticity in the lower extremities that progresses to the upper extremities) associated with developmental and motor delay, mild to moderate cognitive and speech delay, skeletal dysmorphism (e.g. kyphosis and pectus), hypertrichosis and mildly impaired vibration sense. SPG53 is due to mutations in the VPS37A gene (8p22) encoding vacuolar protein sorting-associated protein 37A.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 53 Is also known as spg53

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Failure to thrive
  • Spasticity


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 53

Top 5 symptoms//phenotypes associated to Failure to thrive and Peripheral neuropathy

Symptoms // Phenotype % cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Diarrhea Uncommon - Between 30% and 50% cases
Areflexia Uncommon - Between 30% and 50% cases
Hypocholesterolemia Uncommon - Between 30% and 50% cases
Dystonia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Vomiting Malabsorption Global developmental delay Steatorrhea

Rare Symptoms - Less than 30% cases

Seizures Paresthesia Fat malabsorption Polyneuropathy Wrist drop Anemia Elevated hepatic transaminase Jaundice Sensory impairment Visual impairment Impaired proprioception Microcephaly Nystagmus Optic atrophy Distal sensory impairment Hearing impairment Kyphosis Difficulty walking Acanthocytosis Spasticity Muscle weakness Ataxia Constipation Hepatic steatosis Growth delay Pruritus Motor delay Pain Intellectual disability Failure to thrive in infancy Impaired vibratory sensation Talipes equinovarus Scoliosis Paralytic ileus Visual loss Ileus Increased CSF lactate Facial diplegia External ophthalmoplegia Increased serum lactate Ophthalmoplegia Malnutrition Developmental regression Intrahepatic cholestasis Hepatitis Cholestasis Hyperbilirubinemia Rickets Abnormality of the coagulation cascade Abnormality of coagulation Biliary tract abnormality Hyporeflexia Giant cell hepatitis Acholic stools Neonatal cholestatic liver disease Strabismus Ptosis Dysarthria Skeletal muscle atrophy Hyperhidrosis Proximal muscle weakness Pes cavus Paraplegia Gait disturbance Ventriculomegaly Hypertonia Pectus carinatum Spastic paraplegia Joint hyperflexibility Hypertrichosis Cognitive impairment Lower limb spasticity Clonus Cortical dysplasia Limb dystonia Hyperreflexia in upper limbs Abnormality of the auditory canal Delayed speech and language development Spinal deformities Kyphoscoliosis Falls Abnormal bleeding Facial palsy Distal muscle weakness Abnormality of the cerebral white matter Talipes Peripheral axonal neuropathy Optic disc pallor Decreased nerve conduction velocity Sensorimotor neuropathy Foot dorsiflexor weakness Increased body weight Respiratory insufficiency due to muscle weakness Delayed gross motor development Poor head control Gastrointestinal hemorrhage Hepatosplenomegaly Hepatic failure Hyponatremia Macrocytic anemia Abnormality of the immune system Leukopenia Pancytopenia Confusion Proteinuria Depressivity Abnormality of metabolism/homeostasis Fatigue Elevated urinary delta-aminolevulinic acid Abdominal colic Rod-cone dystrophy Respiratory paralysis Motor axonal neuropathy Hemiparesis Increased mean corpuscular volume Hypertension Hypoalbuminemia Decreased LDL cholesterol concentration Abetalipoproteinemia Reduced tendon reflexes Muscular hypotonia Decreased liver function Respiratory insufficiency Psychosis Behavioral abnormality Abdominal pain Tachycardia Hemolytic anemia Sensory neuropathy Abnormality of the eye Megaloblastic anemia Abnormality of the stomach Cirrhosis Diffuse cerebral atrophy Hip dislocation Dyskinesia Chorea Epileptic encephalopathy CNS hypomyelination Blepharospasm Congenital microcephaly Cerebral atrophy Hepatomegaly Splenomegaly Osteoporosis Abnormality of blood and blood-forming tissues Abnormality of the liver Nyctalopia Encephalopathy Intrauterine growth retardation Malabsorption of Vitamin B12 Hypertriglyceridemia Absence of intrinsic factor Megaloblastic erythroid hyperplasia Myopathy Pain insensitivity Retinopathy Abdominal distention EMG: myopathic abnormalities Abnormal autonomic nervous system physiology Chronic constipation Increased hepatocellular lipid droplets Abnormality of vitamin metabolism Axonal loss Short stature Joint dislocation Upper limb hypertonia


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