Feeding difficulties, and Stroke

Diseases related with Feeding difficulties and Stroke

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

Top matches:

Medium match ISOVALERIC ACIDEMIA

Isovaleric acidemia (IVA) is an autosomal recessively inherited organic aciduria characterized by a deficiency in isovaleryl-CoA dehydrogenase, that has wide clinical variability and that can present in infancy with acute manifestations of vomiting, failure to thrive, seizures, lethargy, a characteristic ''sweaty feet'' odor, acute pancreatitis and mild to severe developmental delay or in childhood with metabolic acidosis (brought on by prolonged fasting, an increased intake of protein-rich food or infections) and that can be fatal if not treated immediately. Chronic intermittent presentations and asymptomatic patients have also been reported.

ISOVALERIC ACIDEMIA Is also known as ivd deficiency|isovaleric acid coa dehydrogenase deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Failure to thrive
  • Feeding difficulties
  • Hepatomegaly


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about ISOVALERIC ACIDEMIA

Familial isolated dilated cardiomyopathy is a rare, genetically heterogeneous cardiac disease characterized by dilatation leading to systolic and diastolic dysfunction of the left and/or right ventricles, causing heart failure or arrhythmia.

FAMILIAL ISOLATED DILATED CARDIOMYOPATHY Is also known as cardiomyopathy, familial dilated|cardiomyopathy, familial dilated, 1|cmpd1|familial or idiopathic dilated cardiomyopathy|fdc

Related symptoms:

  • Sensorineural hearing impairment
  • Feeding difficulties
  • Fatigue
  • Ventriculomegaly
  • Cardiomyopathy


SOURCES: OMIM ORPHANET MENDELIAN

More info about FAMILIAL ISOLATED DILATED CARDIOMYOPATHY

Vitamin B12-unresponsive methylmalonic acidemia type mut- is an inborn error of metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12.

VITAMIN B12-UNRESPONSIVE METHYLMALONIC ACIDEMIA TYPE MUT- Is also known as vitamin b12-unresponsive methylmalonic aciduria type mut-|partial deficiency of methylmalonyl-coa mutase

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about VITAMIN B12-UNRESPONSIVE METHYLMALONIC ACIDEMIA TYPE MUT-

Other less relevant matches:

3-methylcrotonyl-CoA carboxylase deficiency (3-MCCD) is an inherited disorder of leucine metabolism characterized by a highly variable clinical picture ranging from metabolic crisis in infancy to asymptomatic adults.

3-METHYLCROTONYL-COA CARBOXYLASE DEFICIENCY Is also known as mcc1 deficiency|3-methylcrotonylglycinuria i|mccd|3-methylcrotonylglycinuria|methylcrotonylglycinuria type i|mccd type 1|mcc deficiency

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about 3-METHYLCROTONYL-COA CARBOXYLASE DEFICIENCY

Congenital adrenal hyperplasia due to 11 beta-hydroxylase (CYP11B1) deficiency is a rare form of congenital adrenal hyperplasia (CAH; see this term) characterized by glucocorticoid deficiency, hyperandrogenism, hypertension and virilization in females.

CONGENITAL ADRENAL HYPERPLASIA DUE TO 11-BETA-HYDROXYLASE DEFICIENCY Is also known as cah due to 11-beta-hydroxylase deficiency|cyp11b1 deficiency

Related symptoms:

  • Short stature
  • Feeding difficulties
  • Hypertension
  • Vomiting
  • Delayed skeletal maturation


SOURCES: ORPHANET MENDELIAN

More info about CONGENITAL ADRENAL HYPERPLASIA DUE TO 11-BETA-HYDROXYLASE DEFICIENCY

Homocystinuria due to methylene tetrahydrofolate reductase (MTHFR) deficiency is a metabolic disorder characterised by neurological manifestations.

HOMOCYSTINURIA DUE TO METHYLENE TETRAHYDROFOLATE REDUCTASE DEFICIENCY Is also known as methylenetetrahydrofolate reductase deficiency|mthfr deficiency|methylene tetrahydrofolate reductase deficiency

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about HOMOCYSTINURIA DUE TO METHYLENE TETRAHYDROFOLATE REDUCTASE DEFICIENCY

CITRULLINEMIA, CLASSIC Is also known as ass deficiency|argininosuccinate synthetase deficiency|citrullinemia, type i|ctln1|citrullinuria

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about CITRULLINEMIA, CLASSIC

Medium match RFT1-CDG

RFT1-CDG is a form of congenital disorders of N-linked glycosylation characterized by poorly coordinated suck resulting in difficulty feeding and failure to thrive; myoclonic jerks with hypotonia and brisk reflexes progressing to a seizure disorder; roving eyes; developmental delay; poor to absent visual contact; and sensorineural hearing loss. Additional features that may be observed include coagulation factor abnormalities, inverted nipples and microcephaly. The disease is caused by mutations in the gene RFT1 (3p21.1).

RFT1-CDG Is also known as congenital disorder of glycosylation type in|cdg1n|cdg-in|cdg syndrome type in|carbohydrate deficient glycoprotein syndrome type in|man5glcnac2-pp-dol flippase deficiency|cdgin|cdg in|congenital disorder of glycosylation type 1n

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about RFT1-CDG

Saguenay-Lac-St. Jean (SLSJ) type congenital lactic acidosis, a French Canadian form of Leigh syndrome (see this term), is a mitochondrial disease characterized by chronic metabolic acidosis, hypotonia, facial dysmorphism and delayed development.

CONGENITAL LACTIC ACIDOSIS, SAGUENAY-LAC-SAINT-JEAN TYPE Is also known as cytochrome oxidase deficiency, saguenay-lac-saint-jean type|cytochrome c oxidase deficiency, french canadian type|cytochrome c oxidase deficiency, french-canadian type|cox deficiency, french canadian type|leigh syndrome, french-canadian type|slsj-cox defi

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about CONGENITAL LACTIC ACIDOSIS, SAGUENAY-LAC-SAINT-JEAN TYPE

Baraitser-Winter syndrome (BWS) is a malformation syndrome, characterized by facial dysmorphism (hypertelorism with ptosis, broad bulbous nose, ridged metopic suture, arched eyebrows, progressive coarsening of the face), ocular coloboma, pachygyria and/or band heterotopias with antero-posterior gradient, progressive joint stiffening, and intellectual deficit of variable severity, often with severe epilepsy. Pachygyria - epilepsy - intellectual disability - dysmorphism (Fryns-Aftimos syndrome (FA); see this term) corresponds to the appearance of BWS in elderly patients.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Scoliosis


SOURCES: ORPHANET MENDELIAN

More info about BARAITSER-WINTER CEREBROFRONTOFACIAL SYNDROME

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

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Failure to thrive Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Coma Common - Between 50% and 80% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Generalized hypotonia Lethargy Spasticity Ataxia Muscular hypotonia Hepatomegaly Vomiting Edema Metabolic acidosis Respiratory distress Microcephaly Dystonia Acidosis Aciduria Hyperammonemia Cardiomyopathy

Rare Symptoms - Less than 30% cases

Echolalia Abnormality of movement Micrognathia Short neck Growth delay Hyperreflexia Abnormality of the coagulation cascade Hallucinations Wide nasal bridge Short stature Hypertelorism Highly arched eyebrow Stroke-like episode Cerebral palsy Gliosis Respiratory insufficiency Severe global developmental delay Irritability Apnea Hypoglycemia Cerebral cortical atrophy Diarrhea Thromboembolism Hirsutism Tremor Sensorineural hearing impairment Hepatic steatosis Ketoacidosis Cerebral edema Intellectual disability, severe Behavioral abnormality Intellectual disability, mild Scoliosis Thrombocytopenia Cerebral atrophy Delusions Organic aciduria Encephalopathy Poor suck Dehydration Tachypnea Adducted thumb Abnormal bleeding Hyperhomocystinemia Abnormality of the foot Arthrogryposis multiplex congenita Mild short stature Slurred speech Abnormality of coagulation Inverted nipples Abnormal thrombosis Pes valgus Hyperintensity of cerebral white matter on MRI Abnormality of the posterior cranial fossa Abnormal isoelectric focusing of serum transferrin Bilateral basal ganglia lesions Coronary artery atherosclerosis Strabismus Abnormal facial shape Delayed speech and language development Dysphagia Homocystinuria Myoclonus Motor delay Psychosis Ankle clonus Insomnia Increased intracranial pressure Enuresis Hepatic encephalopathy Mania Clonus Anteverted nares Delayed menarche Oroticaciduria Respiratory alkalosis Protein avoidance Muscular hypotonia of the trunk Hyperglutaminemia Episodic ammonia intoxication Hearing impairment Cirrhosis Cognitive impairment Visual impairment Confusion Visual loss Loss of consciousness Headache Reduced visual acuity Hypertonia Hypoargininemia Leukoencephalopathy Malar flattening Pachygyria Hydroureter Trigonocephaly Mutism Lissencephaly Pointed chin Large fontanelles Low posterior hairline Aphasia Specific learning disability Webbed neck Prominent nose Full cheeks Microcornea Iris coloboma Delayed cranial suture closure Dysphasia Polymicrogyria Abnormality of the upper urinary tract Osteochondrosis Cerebral cortical hemiatrophy Retinoschisis Duplication of thumb phalanx Macrogyria Subcortical cerebral atrophy Optic nerve coloboma Long nose Heterochromia iridis Depressed nasal tip Short columella Transient ischemic attack Palpebral edema Prominent metopic ridge Long palpebral fissure Wide nose Thin vermilion border Midface retrusion Increased serum lactate Truncal ataxia Low anterior hairline Decreased liver function Broad-based gait Intention tremor Peripheral demyelination Lactic acidosis Hyperglycemia Developmental regression Hypertrophic cardiomyopathy Prominent forehead Cerebellar hypoplasia Hypospadias Absent speech Shock Anteriorly placed anus Wide mouth Long philtrum Joint stiffness Telecanthus Hydronephrosis Coarse facial features Skeletal dysplasia Retrognathia Downslanted palpebral fissures Increased CSF lactate Epicanthus Ptosis Increased hepatocellular lipid droplets Congenital lactic acidosis Microvesicular hepatic steatosis CNS demyelination Breathing dysregulation Incoordination Abnormality of hair growth rate Paraparesis Feeding difficulties in infancy Dysarthria Optic atrophy Splenomegaly Renal insufficiency Immunodeficiency Abdominal pain Nausea and vomiting Neutropenia Choreoathetosis Anorexia Pancreatitis Areflexia Respiratory failure Gastroesophageal reflux Nausea Diffuse palmoplantar hyperkeratosis Opisthotonus Acute hepatic steatosis Neutrophilia Abnormality of the cerebral vasculature Ketonuria Drowsiness Poor appetite Failure to thrive in infancy Tetraplegia Leukodystrophy Involuntary movements Hemiparesis Intellectual disability, profound Focal-onset seizure Brain atrophy Anemia Impaired myocardial contractility Acute hyperammonemia Congestive heart failure Pancytopenia Bone marrow hypocellularity Leukopenia Ischemic stroke Methylmalonic aciduria Hyperglycinemia Abnormal myelination Hyperglycinuria Methylmalonic acidemia Episodic ketoacidosis Cerebellar hemorrhage Fatigue Ventriculomegaly Myopathy Dilatation Abnormality of neutrophils EMG abnormality Abnormal left ventricle morphology Severe sensorineural hearing impairment Lipoatrophy Congenital sensorineural hearing impairment Palmoplantar hyperkeratosis Ventricular arrhythmia Palpitations Arrhythmia Syncope Palmoplantar keratoderma Dilated cardiomyopathy Cough Dyspnea Elevated serum creatine phosphokinase Episodic metabolic acidosis Abnormality of leucine metabolism Progressive neurologic deterioration Hypervolemia Adrenocorticotropic hormone excess Adrenogenital syndrome Decreased fertility in males Hypernatriuria Premature adrenarche Enlarged ovaries Increased circulating androgen level Fused labia minora Abnormality of prenatal development or birth Ectopic adrenal gland Accelerated bone age after puberty Hyperpigmented genitalia Abnormality of the labia majora Female sexual dysfunction Abnormal circulating aldosterone Ambiguous genitalia, female Attention deficit hyperactivity disorder Myocardial infarction Hypsarrhythmia Epileptic encephalopathy Waddling gait Paresthesia Limb muscle weakness Abnormality of the nervous system Early onset of sexual maturation Proximal muscle weakness Hyperactivity Hypoplasia of the corpus callosum Gait disturbance Peripheral neuropathy Muscle weakness Hypoplasia of the vagina Hypovolemia Hypertension Generalized hyperpigmentation Delayed skeletal maturation Osteoporosis Ambiguous genitalia Tall stature Gynecomastia Accelerated skeletal maturation Reduced bone mineral density Polycystic ovaries Hypokalemia Hyponatremia Clitoral hypertrophy Bilateral cryptorchidism Hyperkalemia Decreased fertility Aortic root aneurysm Decreased fertility in females Decreased circulating aldosterone level Increased circulating ACTH level Congenital adrenal hyperplasia Abnormality of the menstrual cycle Enlarged polycystic ovaries Urogenital sinus anomaly Decreased circulating renin level Abnormal vagina morphology Primary adrenal insufficiency Long penis Menstrual irregularities Decreased circulating cortisol level Renal salt wasting Hyperaldosteronism Abnormal EKG Euryblepharon


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