Feeding difficulties, and Bradycardia

Diseases related with Feeding difficulties and Bradycardia

In the following list you will find some of the most common rare diseases related to Feeding difficulties and Bradycardia that can help you solving undiagnosed cases.


Top matches:

Medium match SUDDEN CARDIAC FAILURE, INFANTILE; SCFI


Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Failure to thrive
  • Feeding difficulties
  • Cardiomyopathy


SOURCES: OMIM MENDELIAN

More info about SUDDEN CARDIAC FAILURE, INFANTILE; SCFI

Medium match MYOTONIA, POTASSIUM-AGGRAVATED


In a report on the 37th ENMC Workshop, Rudel and Lehmann-Horn (1997) stated that the sodium channelopathies can be divided into 3 different forms: paramyotonia, potassium-aggravated myotonia, and periodic paralysis. Potassium-aggravated myotonia includes mild myotonia fluctuans, severe myotonia permanens, and acetazolamide-responsive myotonia.

MYOTONIA, POTASSIUM-AGGRAVATED Is also known as myotonia congenita, acetazolamide-responsive|myotonia fluctuans|sodium channel muscle disease|myotonia congenita, atypical|myotonia permanens

Related symptoms:

  • Generalized hypotonia
  • Muscle weakness
  • Feeding difficulties
  • Fever
  • Fatigue


SOURCES: OMIM MENDELIAN

More info about MYOTONIA, POTASSIUM-AGGRAVATED

Medium match PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER); PBD3A


The peroxisomal biogenesis disorder (PBD) Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome resulting from disordered peroxisome biogenesis. Affected children present in the newborn period with profound hypotonia, seizures, and inability to feed. Characteristic craniofacial anomalies, eye abnormalities, neuronal migration defects, hepatomegaly, and chondrodysplasia punctata are present. Children with this condition do not show any significant development and usually die in the first year of life (summary by Steinberg et al., 2006).For a complete phenotypic description and a discussion of genetic heterogeneity of Zellweger syndrome, see {214100}.Individuals with PBDs of complementation group 3 (CG3) have mutations in the PEX12 gene. For information on the history of PBD complementation groups, see {214100}.

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Low-set ears
  • Hepatomegaly
  • Wide nasal bridge


SOURCES: MESH OMIM MENDELIAN

More info about PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER); PBD3A

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Other less relevant matches:

Medium match SUDDEN INFANT DEATH-DYSGENESIS OF THE TESTES SYNDROME


Sudden infant death with dysgenesis of the testes (SIDDT) syndrome is a lethal condition in infants with dysgenesis of testes.

SUDDEN INFANT DEATH-DYSGENESIS OF THE TESTES SYNDROME Is also known as siddt

Related symptoms:

  • Growth delay
  • Cryptorchidism
  • Abnormality of metabolism/homeostasis
  • Arrhythmia
  • Hyporeflexia


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about SUDDEN INFANT DEATH-DYSGENESIS OF THE TESTES SYNDROME

Medium match NEONATAL ENCEPHALOMYOPATHY-CARDIOMYOPATHY-RESPIRATORY DISTRESS SYNDROME


Primary coenzyme Q10 deficiency-7 is an autosomal recessive disorder resulting from mitochondrial dysfunction. Most patients have onset of severe cardiac or neurologic symptoms soon after birth, usually resulting in death. Rare patients may have later onset with a more protracted course. Tissue samples from affected individuals show decreased levels of coenzyme Q10 (CoQ10) (summary by Brea-Calvo et al., 2015).For a general phenotypic description and a discussion of genetic heterogeneity of primary coenzyme Q10 deficiency, see COQ10D1 (OMIM ).

NEONATAL ENCEPHALOMYOPATHY-CARDIOMYOPATHY-RESPIRATORY DISTRESS SYNDROME Is also known as coq4-related neonatal encephalomyopathy

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Scoliosis
  • Feeding difficulties
  • Intrauterine growth retardation


SOURCES: ORPHANET OMIM MENDELIAN

More info about NEONATAL ENCEPHALOMYOPATHY-CARDIOMYOPATHY-RESPIRATORY DISTRESS SYNDROME

Medium match HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 2; CHNG2


In 80 to 85% of cases, congenital hypothyroidism is associated with, and presumably is a consequence of, thyroid dysgenesis (Macchia et al., 1998). In these cases, the thyroid gland can be absent (agenesis), ectopically located, and/or severely reduced in size (hypoplasia). When thyroid hormone therapy is not initiated within the first 2 months of life, congenital hypothyroidism can cause severe neurologic, mental, and motor damage (cretinism).

HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 2; CHNG2 Is also known as rtsh|thyroid agenesis|thyrotropin resistance|resistance to thyrotropin|thyroid, ectopic|hypothyroidism, athyreotic|athyreotic hypothyroidism|hypothyroidism, congenital, due to thyroid dysgenesis|thyroid hypoplasia|thyroid dysgenesis

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Growth delay
  • Muscular hypotonia


SOURCES: OMIM MENDELIAN

More info about HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 2; CHNG2

Medium match AUTOSOMAL DOMINANT LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 1B


Autosomal dominant limb-girdle muscular dystrophy type 1B (LGMD1B) is a subtype of autosomal dominant limb girdle muscular dystrophy characterized by a variable age of onset of progressive shoulder and hip girdle weakness, with inferior limbs usually being affected prior to upper limbs, and mild joint contractures. LGMD1B is also associated with cardiac dysrhythmias, including atrioventricular conduction blocks, and late-onset dilated cardiomyopathy, that may lead to sudden death.

AUTOSOMAL DOMINANT LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 1B Is also known as lgmd1b|limb-girdle muscular dystrophy due to lamin a/c deficiency

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness
  • Flexion contracture


SOURCES: ORPHANET MESH MENDELIAN

More info about AUTOSOMAL DOMINANT LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 1B

Medium match HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE 6


Hereditary sensory and autonomic neuropathy type VI is a severe autosomal recessive disorder characterized by neonatal hypotonia, respiratory and feeding difficulties, lack of psychomotor development, and autonomic abnormalities including labile cardiovascular function, lack of corneal reflexes leading to corneal scarring, areflexia, and absent axonal flare response after intradermal histamine injection (summary by Edvardson et al., 2012).For a discussion of genetic heterogeneity of hereditary sensory and autonomic neuropathy, see HSAN1 (OMIM ).

HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE 6 Is also known as familial dysautonomia with contractures|hereditary sensory and autonomic neuropathy type vi|hsan6|hsan vi

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE 6

Medium match MITOCHONDRIAL HYPERTROPHIC CARDIOMYOPATHY WITH LACTIC ACIDOSIS DUE TO MTO1 DEFICIENCY


Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency is a rare mitochondrial oxidative phosphorylation disorder with complex I and IV deficiency characterized by lactic acidosis, hypotonia, hypertrophic cardiomyopathy and global developmental delay. Other clinical features include feeding difficulties, failure to thrive, seizures, optic atrophy and ataxia.

MITOCHONDRIAL HYPERTROPHIC CARDIOMYOPATHY WITH LACTIC ACIDOSIS DUE TO MTO1 DEFICIENCY Is also known as cardiomyopathy, infantile hypertrophic mitochondrial, and lactic acidosis|coxpd10|combined oxidative phosphorylation defect type 10

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MITOCHONDRIAL HYPERTROPHIC CARDIOMYOPATHY WITH LACTIC ACIDOSIS DUE TO MTO1 DEFICIENCY

Medium match ENCEPHALOPATHY-HYPERTROPHIC CARDIOMYOPATHY-RENAL TUBULAR DISEASE SYNDROME


Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome is a rare mitochondrial disease due to a defect in coenzyme Q10 biosynthesis that manifests with a broad spectrum of signs and symptoms which may include: neonatal lactic acidosis, global developmental delay, tonus disorder, seizures, reduced spontaneous movements, ventricular hypertrophy, bradycardia, renal tubular dysfunction with massive lactic acid excretion in urine, severe biochemical defect of respiratory chain complexes II/III when assayed together and deficiency of coenzyme Q10 in skeletal muscle. Cerebral and cerebellar atrophy can be seen on magnetic resonance imaging and multiple choroid plexus cysts and symmetrical hyperechoic signal alterations in basal ganglia have been observed on ultrasound.

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Feeding difficulties
  • Hyperreflexia


SOURCES: ORPHANET OMIM MENDELIAN

More info about ENCEPHALOPATHY-HYPERTROPHIC CARDIOMYOPATHY-RENAL TUBULAR DISEASE SYNDROME

Top 5 symptoms//phenotypes associated to Feeding difficulties and Bradycardia

Symptoms // Phenotype % cases
Generalized hypotonia Very Common - Between 80% and 100% cases
Seizures Common - Between 50% and 80% cases
Arrhythmia Uncommon - Between 30% and 50% cases
Lactic acidosis Uncommon - Between 30% and 50% cases
Hypertrophic cardiomyopathy Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Feeding difficulties and Bradycardia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Acidosis Growth delay Respiratory insufficiency Apnea Muscle weakness Hypothermia Increased serum lactate Feeding difficulties in infancy Global developmental delay Neonatal hypotonia Stridor Encephalopathy Cardiomyopathy

Rare Symptoms - Less than 30% cases


Ventricular hypertrophy Severe lactic acidosis Decreased activity of mitochondrial respiratory chain Dystonia Small for gestational age Flexion contracture Congestive heart failure Dilated cardiomyopathy Metabolic acidosis Tachycardia Areflexia Intellectual disability Hepatomegaly Low-set ears Wide nasal bridge Laryngospasm Hyperalaninemia Fever Cerebellar atrophy Elevated serum creatine phosphokinase Left ventricular hypertrophy Failure to thrive Muscular hypotonia Intrauterine growth retardation Myotonia Cardiac arrest Scoliosis Fatiguable weakness of proximal limb muscles Abnormal muscle fiber lamin A/C Paroxysmal supraventricular tachycardia Proximal muscle weakness in upper limbs Proximal lower limb amyotrophy Muscular dystrophy Sick sinus syndrome Atrial arrhythmia Pelvic girdle amyotrophy Limb-girdle muscle atrophy Difficulty running Abnormal echocardiogram Sudden cardiac death Atrial fibrillation Syncope Elbow flexion contracture Knee flexion contracture Ventricular tachycardia EMG: myopathic abnormalities Atrioventricular block Limb-girdle muscular dystrophy Abnormal atrioventricular conduction Calf muscle hypertrophy Difficulty climbing stairs Exertional dyspnea Waddling gait Ankle contracture Limb-girdle muscle weakness Achilles tendon contracture Pelvic girdle muscle weakness Lipodystrophy Alacrima Pain Decreased fetal movement Pleural effusion Aspiration pneumonia Ketonuria Wolff-Parkinson-White syndrome Sinus bradycardia Hyperreflexia Hypertonia Cerebral atrophy Postnatal microcephaly Cardiomegaly Aminoaciduria Opisthotonus Hypokinesia Weak cry Abnormal renal physiology Abnormality of the renal tubule Abnormal enzyme/coenzyme activity Decreased activity of mitochondrial complex II Infantile muscular hypotonia Ascites High palate Corneal scarring Peripheral neuropathy Talipes equinovarus Hyperhidrosis Scarring Sensory neuropathy Open mouth Short chin Hand clenching Proximal muscle weakness Poor speech Limited hip extension Blotching pigmentation of the skin Ataxia Spasticity Cognitive impairment Motor delay Optic atrophy Hypoglycemia Hyperlordosis Macroglossia Difficulty walking Ambiguous genitalia Abnormality of metabolism/homeostasis Hyporeflexia Myoclonus Gastroesophageal reflux Abnormality of the eye Ophthalmoplegia Hypoplasia of penis Abnormal autonomic nervous system physiology Generalized neonatal hypotonia Sleep apnea Scrotal hypoplasia Abnormality of the voice Cardiorespiratory arrest Tongue fasciculations Ambiguous genitalia, male Abnormal pattern of respiration Testicular dysgenesis Cryptorchidism Epiphyseal stippling Partial development of the penile shaft Paralysis Myopathy Vomiting Otitis media Nemaline bodies Myocarditis Myocardial fibrosis Fatigue Myalgia Cyanosis Polycystic kidney dysplasia Muscle stiffness Skeletal muscle hypertrophy Periodic paralysis Respiratory arrest Apneic episodes in infancy Dilatation High forehead Flat face Bronchospasm Dysplastic testes Midface retrusion Thyroid hypoplasia Abdominal distention Growth hormone deficiency Abnormal vertebral morphology Hyperbilirubinemia Goiter Spondyloepiphyseal dysplasia Congenital hypothyroidism Increased thyroid-stimulating hormone level Lethargy Hoarse cry Ectopic thyroid Thyroid agenesis Large posterior fontanelle Thyroid dysgenesis Thyroid hemiagenesis Skeletal muscle atrophy Gait disturbance Dry skin Carcinoma Staccato cry Neuronal loss in central nervous system Dysphagia Respiratory distress Patent ductus arteriosus Cerebellar hypoplasia EEG abnormality Mental deterioration Polyneuropathy Epileptic encephalopathy Abnormality of mitochondrial metabolism Umbilical hernia Neonatal respiratory distress Hypoplastic left heart Motor deterioration Astrocytosis Short stature Delayed skeletal maturation Constipation Hypothyroidism Decreased activity of mitochondrial complex III



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