Failure to thrive, and Hyporeflexia

Diseases related with Failure to thrive and Hyporeflexia

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

Top matches:

Bartter syndrome refers to a group of disorders that are unified by autosomal recessive transmission of impaired salt reabsorption in the thick ascending loop of Henle with pronounced salt wasting, hypokalemic metabolic alkalosis, and hypercalciuria. Clinical disease results from defective renal reabsorption of sodium chloride in the thick ascending limb (TAL) of the Henle loop, where 30% of filtered salt is normally reabsorbed (Simon et al., 1997).Patients with antenatal (or neonatal) forms of Bartter syndrome (e.g., BARTS1, {601678}) typically present with premature birth associated with polyhydramnios and low birth weight and may develop life-threatening dehydration in the neonatal period. Patients with classic Bartter syndrome present later in life and may be sporadically asymptomatic or mildly symptomatic (summary by Simon et al., 1996 and Fremont and Chan, 2012).For a discussion of genetic heterogeneity of Bartter syndrome, see {607364}.

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Failure to thrive
  • Sensorineural hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about BARTTER SYNDROME, TYPE 4B, NEONATAL, WITH SENSORINEURAL DEAFNESS; BARTS4B

Bartter syndrome refers to a group of disorders that are unified by autosomal recessive transmission of impaired salt reabsorption in the thick ascending loop of Henle with pronounced salt wasting, hypokalemic metabolic alkalosis, and hypercalciuria. Clinical disease results from defective renal reabsorption of sodium chloride in the thick ascending limb (TAL) of the Henle loop, where 30% of filtered salt is normally reabsorbed (Simon et al., 1997).Patients with antenatal (or neonatal) forms of Bartter syndrome typically present with premature birth associated with polyhydramnios and low birth weight and may develop life-threatening dehydration in the neonatal period. Patients with classic Bartter syndrome (see BARTS3, {607364}) present later in life and may be sporadically asymptomatic or mildly symptomatic (summary by Simon et al., 1996 and Fremont and Chan, 2012).For a discussion of genetic heterogeneity of Bartter syndrome, see {607364}.

BARTTER SYNDROME, TYPE 4A, NEONATAL, WITH SENSORINEURAL DEAFNESS; BARTS4A Is also known as bartter syndrome, neonatal, with sensorineural deafness|bsnd

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Hearing impairment
  • Failure to thrive
  • Sensorineural hearing impairment


SOURCES: OMIM MENDELIAN

More info about BARTTER SYNDROME, TYPE 4A, NEONATAL, WITH SENSORINEURAL DEAFNESS; BARTS4A

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

Other less relevant matches:

Early infantile epileptic encephalopathy-51 is an autosomal recessive severe neurodevelopmental disorder characterized by onset of intractable seizures and hypotonia in the first days or weeks of life. Affected individuals have severely delayed psychomotor development and may show abnormal movements. Brain imaging shows nonspecific abnormalities, such as cerebral atrophy, cerebellar atrophy, and delayed myelination. Laboratory studies showed increased lactate, suggesting mitochondrial dysfunction (summary by Ait-El-Mkadem et al., 2017).For a discussion of genetic heterogeneity of EIEE, see {308350}.

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive
  • Strabismus


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 51; EIEE51

COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 26 Is also known as coxpd26

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Growth delay
  • Failure to thrive
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 26

Spinal muscular atrophy with respiratory distress type 1 is a rare genetic motor neuron disease characterized by severe respiratory distress/respiratory failure in association with diaphragmatic eventration and palsy, as well as progressive, symmetrical, distal-to-proximal muscle weakness and atrophy (in lower limbs especially). Patients typically have a history of intrauterine growth retardation, low birth weight, feeble cry, weak suck and failure to thrive and present with inspiratory stridor, recurrent episodes of dyspnea or apnea, cyanosis and absent deep tendon reflexes. Kyphosis/scoliosis, foot deformities and joint contractures are frequently associated features.

SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS TYPE 1 Is also known as dhmn6|hmn6|neuronopathy, distal hereditary motor, type vi|spinal muscular atrophy, diaphragmatic|autosomal recessive distal spinal muscular atrophy type 1|autosomal recessive spinal muscular atrophy with respiratory distress|dsma1|distal-hmn type 6|diaphr

Related symptoms:

  • Generalized hypotonia
  • Growth delay
  • Failure to thrive
  • Muscle weakness
  • Muscular hypotonia


SOURCES: ORPHANET OMIM MENDELIAN

More info about SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS TYPE 1

Niemann-Pick disease type A is a very severe subtype of Niemann-Pick disease, an autosomal recessive lysosomal disease, and is characterized clinically by onset in infancy or early childhood with failure to thrive, hepatosplenomegaly, and rapidly progressive neurodegenerative disorders.

NIEMANN-PICK DISEASE TYPE A Is also known as sphingomyelinase deficiency|sphingomyelin lipidosis

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Failure to thrive


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about NIEMANN-PICK DISEASE TYPE A

GLYCOGEN STORAGE DISEASE IV; GSD4 Is also known as andersen disease|brancher deficiency|gbe1 deficiency|amylopectinosis|gsd iv|glycogen branching enzyme deficiency|cirrhosis, familial, with deposition of abnormal glycogen|glycogenosis iv

Related symptoms:

  • Generalized hypotonia
  • Failure to thrive
  • Muscle weakness
  • Muscular hypotonia
  • Flexion contracture


SOURCES: OMIM MENDELIAN

More info about GLYCOGEN STORAGE DISEASE IV; GSD4

NEDMAGA is a neurodevelopmental disorder characterized by infantile-onset global developmental delay with severe to profound intellectual disability, mildly delayed walking with broad-based and unsteady gait, and absence of meaningful language. Patients have features of autism, with repetitive behaviors and poor communication, but usually are socially reactive and have a happy demeanor. More variable neurologic features include mild seizures, spasticity, and peripheral neuropathy (summary by Palmer et al., 2017).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NEURODEVELOPMENTAL DISORDER WITH MOVEMENT ABNORMALITIES, ABNORMAL GAIT, AND AUTISTIC FEATURES; NEDMAGA

EMARDD is a congenital myopathy characterized by proximal and generalized muscle weakness, respiratory difficulties, joint contractures, and scoliosis. More variable features include cleft palate and feeding difficulties. There is variable severity: some patients become ventilator-dependent, never achieve walking, and die in childhood, whereas others have a longer and more favorable course (summary by Logan et al., 2011 and Boyden et al., 2012).

EARLY-ONSET MYOPATHY-AREFLEXIA-RESPIRATORY DISTRESS-DYSPHAGIA SYNDROME Is also known as emardd

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about EARLY-ONSET MYOPATHY-AREFLEXIA-RESPIRATORY DISTRESS-DYSPHAGIA SYNDROME

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

Symptoms // Phenotype % cases
Generalized hypotonia Very Common - Between 80% and 100% cases
Muscular hypotonia Common - Between 50% and 80% cases
Muscle weakness Common - Between 50% and 80% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Feeding difficulties Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Intellectual disability Constipation Talipes equinovarus Peripheral neuropathy Motor delay Polyhydramnios Flexion contracture Areflexia Poor head control Seizures Edema Skeletal muscle atrophy Growth delay Small for gestational age Myopathy Spasticity Decreased fetal movement Premature birth

Rare Symptoms - Less than 30% cases

Respiratory distress Absent speech Gastroesophageal reflux Difficulty walking Proximal muscle weakness Facial palsy Distal muscle weakness Peripheral axonal neuropathy Hepatosplenomegaly Decreased nerve conduction velocity Hepatomegaly Diaphragmatic paralysis Severe muscular hypotonia Encephalopathy Respiratory failure Babinski sign Muscular dystrophy Delayed myelination Increased serum lactate Limb muscle weakness Camptodactyly of finger Cardiomyopathy Paralysis Dyspnea Cirrhosis Respiratory tract infection Short stature Pain Exercise intolerance Exertional dyspnea Hypokalemia Hypernatriuria Triangular face Prominent forehead Hypokalemic hypochloremic metabolic alkalosis Hyperchloriduria Fetal polyuria Hypochloremia Increased urinary potassium Renal insufficiency Hypokalemic metabolic alkalosis Sensorineural hearing impairment Decreased glomerular filtration rate Metabolic alkalosis Alkalosis Renal salt wasting Hyperaldosteronism Polyuria Hyponatremia Hypercalciuria Dehydration Hydrops fetalis Hearing impairment Scoliosis Tubulointerstitial fibrosis Widely spaced teeth Diffuse reticular or finely nodular infiltrations Foam cells with lamellar inclusion bodies Bulbar palsy Long fingers Restrictive ventilatory defect Nasal speech Hypertension Recurrent pneumonia Congestive heart failure Bone-marrow foam cells Hyperlordosis Generalized muscle weakness Neonatal hypotonia Abnormality of the liver Pectus excavatum Dilated cardiomyopathy Dysphagia Sea-blue histiocytosis Cherry red spot of the macula Difficulty running Abnormality of metabolism/homeostasis Recurrent respiratory infections Osteoporosis Jaundice Respiratory arrest Rigidity Feeding difficulties in infancy Irritability Lymphadenopathy Hepatic failure Sleep disturbance Athetosis Microcytic anemia Prolonged neonatal jaundice Protuberant abdomen Xanthomatosis Increased connective tissue Arthrogryposis multiplex congenita Ascites High palate Prominent supraorbital ridges Macrocephaly Hypertonia Short nose Hyperactivity Cerebral cortical atrophy Progressive spasticity Autism Unsteady gait Microcephaly Thick eyebrow Downturned corners of mouth Everted lower lip vermilion Highly arched eyebrow Esotropia Open mouth Broad-based gait Stereotypy Depressed nasal bridge Limb joint contracture Progressive microcephaly Happy demeanor Sudden cardiac death Cleft palate Waddling gait Hepatic fibrosis Decreased liver function Reduced tendon reflexes Portal hypertension Limb-girdle muscular dystrophy Generalized edema Broad columella Splenomegaly Akinesia Myopathic facies Tics Difficulty climbing stairs Fetal akinesia sequence Esophageal varix Optic atrophy EMG: neuropathic changes Vomiting Cerebellar atrophy Wrist drop Congenital sensorineural hearing impairment Polydipsia Strabismus Glomerulosclerosis Nephrocalcinosis Hypoplasia of the corpus callosum Dystonia Abnormally large globe Cerebral atrophy Nephrolithiasis Postural instability Rod-cone dystrophy Abnormal pyramidal sign Inability to walk Generalized myoclonic seizures Stage 5 chronic kidney disease Spinal deformities Delayed gross motor development Epileptic encephalopathy Abnormality of the cerebral white matter Visual loss Pes cavus Kyphoscoliosis Reduced renal corticomedullary differentiation Hypochloremic metabolic alkalosis Global glomerulosclerosis Mesangial hypercellularity Talipes Respiratory insufficiency due to muscle weakness Hypokalemic alkalosis Falls Distal sensory impairment Sensory impairment Optic disc pallor Sensorimotor neuropathy Foot dorsiflexor weakness Increased body weight Protruding ear Abnormality of mitochondrial metabolism Denervation of the diaphragm Hypoventilation Distal amyotrophy Urinary incontinence Progressive muscle weakness Tachypnea Spinal muscular atrophy Axonal degeneration Weak cry Recurrent lower respiratory tract infections Abnormality of the foot Kyphosis Degeneration of anterior horn cells Diaphragmatic eventration Inspiratory stridor Diaphragmatic weakness Nocturnal hypoventilation Peripheral axonal degeneration Ventilator dependence with inability to wean Lower limb muscle weakness Hyperhidrosis Supernumerary nipple Paresthesia Increased CSF lactate Corpus callosum atrophy Fatigue Hyperreflexia Narrow mouth Acidosis Malabsorption Poor speech Lactic acidosis Respiratory insufficiency Brain atrophy Blue sclerae Ragged-red muscle fibers Glucose intolerance Mitochondrial myopathy Gastrointestinal dysmotility Abnormal activity of mitochondrial respiratory chain Intrauterine growth retardation Increased endomysial connective tissue


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