Failure to thrive, and Syncope

Diseases related with Failure to thrive and Syncope

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

Top matches:

Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD; see this term) characterized by organomegaly, bone involvement and cytopenia.

GAUCHER DISEASE TYPE 1 Is also known as gaucher disease, juvenile and adult, cerebral|gd iii|gaucher disease, chronic neuronopathic type|non-cerebral juvenile gaucher disease|gaucher disease, subacute neuronopathic type

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Scoliosis
  • Ataxia


SOURCES: ORPHANET OMIM MENDELIAN

More info about GAUCHER DISEASE TYPE 1

Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD; see this term) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1 (see this term).

GAUCHER DISEASE TYPE 3 Is also known as chronic neuronopathic gaucher disease|cerebral juvenile and adult form of gaucher disease|gaucher disease, subacute neuronopathic type

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Scoliosis


SOURCES: ORPHANET MENDELIAN

More info about GAUCHER DISEASE TYPE 3

Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD; see this term). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2.

GAUCHER DISEASE TYPE 2 Is also known as infantile cerebral gaucher disease|acute neuronopathic gaucher disease

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about GAUCHER DISEASE TYPE 2

Other less relevant matches:

Familial thrombocytosis is a type of thrombocytosis, a sustained elevation of platelet numbers, which affects the platelet/megakaryocyte lineage and may create a tendency for thrombosis and hemorrhage but does not cause myeloproliferation.

FAMILIAL THROMBOCYTOSIS Is also known as familial thrombocythemia|hereditary thrombocythemia

Related symptoms:

  • Seizures
  • Dysarthria
  • Splenomegaly
  • Headache
  • Hyperhidrosis


SOURCES: ORPHANET MENDELIAN

More info about FAMILIAL THROMBOCYTOSIS

Neurohypophyseal diabetes insipidus is an autosomal dominant disorder of free water conservation characterized by childhood onset of polyuria and polydipsia. Affected individuals are apparently normal at birth, but characteristically develop symptoms of vasopression deficiency during childhood (summary by Wahlstrom et al., 2004).

DIABETES INSIPIDUS, NEUROHYPOPHYSEAL Is also known as diabetes insipidus, cranial type|diabetes insipidus, primary central|cdi

Related symptoms:

  • Intellectual disability
  • Seizures
  • Growth delay
  • Hypertelorism
  • Neoplasm


SOURCES: OMIM MENDELIAN

More info about DIABETES INSIPIDUS, NEUROHYPOPHYSEAL

Loeys-Dietz syndrome-5 (LDS5), also known as Rienhoff (pronounced REENhoff) syndrome, is characterized by syndromic presentation of aortic aneurysms involving the thoracic and/or abdominal aorta, with risk of dissection and rupture. Other systemic features include cleft palate, bifid uvula, mitral valve disease, skeletal overgrowth, cervical spine instability, and clubfoot deformity; however, not all clinical features occur in all patients. In contrast to other forms of LDS (see {609192}), no striking aortic or arterial tortuosity is present in these patients, and there is no strong evidence for early aortic dissection (summary by Bertoli-Avella et al., 2015).For a general phenotypic description and a discussion of genetic heterogeneity of Loeys-Dietz syndrome, see LDS1 (OMIM ).

LOEYS-DIETZ SYNDROME 5; LDS5 Is also known as rienhoff syndrome|rnhf

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Growth delay
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about LOEYS-DIETZ SYNDROME 5; LDS5

Andersen-Tawil syndrome is an autosomal dominant multisystem channelopathy characterized by periodic paralysis, ventricular arrhythmias, and distinctive dysmorphic facial or skeletal features. Hypoplastic kidney and valvular heart disease have also been reported. The disorder shows marked intrafamilial variability and incomplete penetrance (summary by Davies et al., 2005).

ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS Is also known as ats|andersen syndrome|long qt syndrome 7|periodic paralysis, potassium-sensitive cardiodysrhythmic type|lqt7|andersen-tawil syndrome

Related symptoms:

  • Seizures
  • Short stature
  • Microcephaly
  • Scoliosis
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS

Low match SARCOIDOSIS

Sarcoidosis is a multisystemic disorder of unknown cause characterized by the formation of immune granulomas in involved organs.

SARCOIDOSIS Is also known as boeck sarcoid|besnier-boeck-schaumann disease|sarcoidosis|boeck's sarcoid

Related symptoms:

  • Seizures
  • Pain
  • Cataract
  • Anemia
  • Visual impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about SARCOIDOSIS

Narcolepsy with cataplexy is a sleep disorder characterized by excessive day-time sleepiness associated with uncontrollable sleep urges and cataplexy (loss of muscle tone often triggered by pleasant emotions).

NARCOLEPSY TYPE 1 Is also known as g√Člineau disease|narcoleptic syndrome 1|narcolepsy-cataplexy

Related symptoms:

  • Neoplasm
  • Obesity
  • Hyperactivity
  • Abnormality of the eye
  • Paralysis


SOURCES: ORPHANET OMIM MENDELIAN

More info about NARCOLEPSY TYPE 1

Familial hyperinsulinism, also referred to as congenital hyperinsulinism, nesidioblastosis, or persistent hyperinsulinemic hypoglycemia of infancy (PPHI), is the most common cause of persistent hypoglycemia in infancy and is due to defective negative feedback regulation of insulin secretion by low glucose levels. Unless early and aggressive intervention is undertaken, brain damage from recurrent episodes of hypoglycemia may occur (Thornton et al., 1998). Genetic Heterogeneity of Hyperinsulinemic HypoglycemiaHHF2 (OMIM ) is caused by mutation in the KCNJ11 gene (OMIM ) on chromosome 11p15. HHF3 (OMIM ) is caused by mutation in the glucokinase gene (GCK ) on chromosome 7p13. HHF4 (OMIM ) is caused by mutation in the HADH gene (OMIM ) on chromosome 4q25. HHF5 (OMIM ) is caused by mutation in the insulin receptor gene (INSR ) on chromosome 19p13. HHF6 (OMIM ) is caused by mutation in the GLUD1 gene (OMIM ) on chromosome 10q23. HHF7 (OMIM ) is caused by mutation in the SLC16A1 (OMIM ) on chromosome 1p13. There is evidence of further genetic heterogeneity of HHF.

HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1; HHF1 Is also known as persistent hyperinsulinemic hypoglycemia of infancy|hyperinsulinism, congenital|hyperinsulinemic hypoglycemia due to focal adenomatous hyperplasia|hypoglycemia, hyperinsulinemic, of infancy|hyperinsulinism, familial, with pancreatic nesidioblastosis|phhi|

Related symptoms:

  • Intellectual disability
  • Neoplasm
  • Diabetes mellitus
  • Hypoglycemia
  • Coma


SOURCES: OMIM MENDELIAN

More info about HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1; HHF1

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

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Splenomegaly Uncommon - Between 30% and 50% cases
Scoliosis Uncommon - Between 30% and 50% cases
Congestive heart failure Uncommon - Between 30% and 50% cases
Fatigue Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Arrhythmia Dyspnea Osteopenia Lymphadenopathy Pancytopenia Abnormal bleeding Pulmonary arterial hypertension Osteolysis Leukopenia Portal hypertension Interstitial pulmonary abnormality Fever Delayed skeletal maturation Decreased body weight Ataxia Short stature Hepatomegaly Thrombocytopenia Anemia Growth delay Depressivity Generalized osteosclerosis Progressive neurologic deterioration Weight loss Intellectual disability Anorexia Bone pain Strabismus Oculomotor apraxia Abnormality of the thorax Cholelithiasis Clubbing Abnormality of the spleen Menorrhagia Avascular necrosis of the capital femoral epiphysis Increased antibody level in blood Petechiae Respiratory distress Exertional dyspnea Multiple myeloma Supranuclear gaze palsy Epistaxis Spontaneous hematomas Cyanosis Cardiac valve calcification Corneal opacity Vomiting Edema Decreased beta-glucocerebrosidase protein and activity Hematological neoplasm Hepatosplenomegaly Diarrhea Abnormality of eye movement Abdominal pain Osteoporosis Myoclonus Dementia Recurrent respiratory infections Kyphosis Global developmental delay Hepatocellular carcinoma Erlenmeyer flask deformity of the femurs Motor delay Cirrhosis Orthopnea Hypertelorism Ascites Generalized myoclonic seizures Neoplasm

Rare Symptoms - Less than 30% cases

Bulbar palsy Rigidity Pallor Abnormal heart valve morphology Abnormality of the sternum Encephalopathy Ophthalmoplegia Dystonia Hydrops fetalis Pulmonary fibrosis Opisthotonus Hypertonia Hepatic failure Slow saccadic eye movements Paralysis Palpitations High palate Ventricular tachycardia Cleft palate Diabetes insipidus Gliosis Coma Hyperthyroidism Diabetes mellitus Chest pain Vertigo Pain Restrictive deficit on pulmonary function testing Headache Histiocytosis Hyperammonemia Cardiac arrest Lethargy Cough Irritability Hypoglycemia Abnormal facial shape Microcephaly Generalized hypotonia Dysphagia Flexion contracture Arthritis Abdominal distention Increased susceptibility to fractures Proteinuria Abnormality of coagulation Pericardial effusion Abnormality of the eye Myopia Aseptic necrosis Protuberant abdomen Delayed puberty Bruising susceptibility Hematuria Increased serum ferritin Vertebral compression fractures Abnormal myocardium morphology Osteoarthritis Horizontal supranuclear gaze palsy Spasticity Increased bone mineral density Maternal diabetes Fasting hypoglycemia Hypoglycemic seizures Prolonged QT interval Hyperkalemia High pitched voice Blindness Visual impairment Agenesis of permanent teeth Renal insufficiency Alopecia 2-3 toe syndactyly Preauricular pit Myotonia Hypokalemia Glaucoma Hypothyroidism Loss of consciousness Slender long bone Long nose Toe clinodactyly Prominent U wave Prominent frontal sinuses Bidirectional ventricular ectopy Antegonial notching of mandible Periodic hyperkalemic paralysis Short mandibular rami Periodic hypokalemic paresis Clinodactyly of the 5th toe Abnormality of the pancreas Cataract Neoplasm of the endocrine system Delayed eruption of permanent teeth Growth abnormality Hyperinsulinemic hypoglycemia Persistence of primary teeth Periodic paralysis Peripheral neuropathy Scaphocephaly Skeletal muscle atrophy Short metatarsal Abnormality of vision Ventricular arrhythmia Abnormality of the dentition Blepharophimosis Hypoglycemic coma Joint laxity Thin upper lip vermilion Gait ataxia Clinodactyly of the 5th finger Clinodactyly Syndactyly Malar flattening Abnormality of the skeletal system Toe syndactyly Wide nasal bridge Brachydactyly Low-set ears Muscle weakness Micrognathia Increased arm span Cervical spine instability Bilateral coxa valga Arterial dissection Ascending aortic dissection Broad forehead Pulmonic stenosis Oligodontia Coarctation of aorta Bicuspid aortic valve Proximal muscle weakness Pancreatic islet-cell hyperplasia Scapular winging Short chin Short phalanx of finger Hypoplasia of dental enamel Tetraparesis Short palpebral fissure Renal hypoplasia Specific learning disability Facial asymmetry Short metacarpal Triangular face Hypoplasia of the maxilla Delayed eruption of teeth Short foot Small hand Inability to walk Short palm Bulbous nose Tachycardia Photophobia Hypopigmentation of the skin Facial palsy Abnormal salivary gland morphology Enlargement of parotid gland Hypnagogic hallucinations Posterior vitreous detachment Abnormality of skin morphology Paroxysmal drowsiness Abnormal reproductive system morphology Vitritis Vitreous floaters Abnormal conjunctiva morphology Iridocyclitis Anterior uveitis Non-caseating epithelioid cell granulomatosis Dacryocystitis Chorioretinitis Sleep paralysis Graves disease Hypnopompic hallucinations Abnormality of the adrenal glands Abnormality of the lymph nodes Skin plaque Generalized lymphadenopathy Erythema nodosum Abnormality of T cell physiology CNS infection Cystoid macular edema Pulmonary granulomatosis Sleep disturbance Hyperactivity Slurred speech Atonic seizures Drowsiness Brain neoplasm Hypersomnia Obesity Excessive daytime sleepiness Abnormal trabecular meshwork morphology Cataplexy Transient global amnesia Vitreous snowballs Enlarged lacrimal glands Narcolepsy Maculopapular exanthema Abnormality of the nasal mucosa Increased T cell count Abnormal cardiac ventricular function Abnormal rapid eye movement sleep Parotitis Abnormal liver parenchyma morphology Abnormality of the cerebrospinal fluid Chylothorax Erythema Nephrocalcinosis Elevated erythrocyte sedimentation rate Chorioretinal atrophy Blurred vision Emphysema Epiphora Inflammation of the large intestine Pleural effusion Hypercalcemia Hypercalciuria Eosinophilia Decreased liver function Hyperuricemia Hyperpigmentation of the skin Bronchiectasis Nephrolithiasis Subcutaneous nodule Abnormal lung morphology Sudden cardiac death Hallucinations Hemolytic anemia Papule Scarring Abnormality of the musculature Keratoconjunctivitis sicca Vitreous hemorrhage Macular edema Type II diabetes mellitus Hyperinsulinemia Abnormality of the pleura Hyperglycemia Pneumothorax Anterior synechiae of the anterior chamber Night sweats Skin nodule Bone cyst Immune dysregulation Upper airway obstruction Hemoptysis Large for gestational age Abnormality of the gastrointestinal tract Tubulointerstitial nephritis Hypothermia Increased CSF protein Heart block Neonatal hypoglycemia Joint swelling Uveitis Optic neuropathy Arterial tortuosity Growth hormone deficiency Cleft soft palate Elevated hepatic transaminase Cholestasis Decreased fetal movement Abnormality of the skin Brain atrophy Pulmonary hypoplasia Nausea Feeding difficulties in infancy Developmental regression Apnea Jaundice Progressive microcephaly Umbilical hernia Gastroesophageal reflux Polyhydramnios Intrauterine growth retardation Sleep myoclonus Abnormality of the acoustic reflex Abnormality of ion homeostasis Mitral valve calcification Abnormal saccadic eye movements Aortic valve calcification Thickened skin Aspiration Astrocytosis Athetosis Hypomagnesemia Fetal akinesia sequence Aspiration pneumonia Epileptic spasms Limb hypertonia Atrophy/Degeneration affecting the brainstem Poor eye contact Congenital ichthyosiform erythroderma Hypokinesia Heart murmur Elbow flexion contracture Akinesia Hyponatremia Ectropion Bilateral ptosis Intracranial hemorrhage Poor suck Purpura Hyperbilirubinemia Knee flexion contracture Hypocalcemia Abnormal thrombosis Protein-losing enteropathy Trismus Leukocytosis Fractures of the long bones Hypersplenism Esodeviation Periorbital edema Edema of the lower limbs Bipolar affective disorder Gingival bleeding Pathologic fracture Osteomyelitis Reduced bone mineral density Flank pain Spastic paraparesis Meningitis Hepatic fibrosis Apraxia Abnormality of the cardiovascular system Parkinsonism Abnormality of skin pigmentation Neurological speech impairment EEG abnormality Cognitive impairment Abnormality of bone marrow cell morphology Arthralgia of the hip Hypercoagulability Generalized tonic-clonic seizures Thoracic kyphosis Lower limb hyperreflexia Abnormal retinal morphology Restrictive ventilatory defect Hypoalbuminemia Lymphopenia Intention tremor Progressive cerebellar ataxia Neurodegeneration Malabsorption Abnormal pyramidal sign Abnormal platelet function Mental deterioration Aggressive behavior Difficulty walking Hydrocephalus Gait disturbance Tremor Nystagmus Puberty and gonadal disorders Biliary tract obstruction Vascular calcification Bulbar signs Nonimmune hydrops fetalis Spondylolisthesis Proptosis Arthrogryposis multiplex congenita Dolichocephaly Small for gestational age Pectus carinatum Abnormal cardiac septum morphology Neonatal hypotonia Pes planus Retrognathia Kyphoscoliosis Brachycephaly Arachnodactyly Inguinal hernia Hyporeflexia Pectus excavatum Hernia Midface retrusion Dilatation Talipes equinovarus Ventricular septal defect Downslanted palpebral fissures Ptosis Smooth philtrum Long face Germinoma Ectopia lentis Broad face Aortic dissection Hiatus hernia Soft skin Aortic root aneurysm Long palpebral fissure Celiac disease Reduced subcutaneous adipose tissue Decreased muscle mass Cerebral hemorrhage Patent foramen ovale Joint hypermobility Atrioventricular block Aortic regurgitation Joint contracture of the hand Exotropia Tall stature Mitral regurgitation Blue sclerae Mitral valve prolapse Overgrowth Bifid uvula Muscular hypotonia Abnormality of the anterior pituitary Congenital nonbullous ichthyosiform erythroderma CSF pleocytosis Venous thrombosis Spontaneous abortion Paresthesia Pruritus Hyperhidrosis Dysarthria EEG with temporal sharp waves Slowed horizontal saccades Abnormal platelet aggregation Laryngeal stridor Visual field defect Giant cell hepatitis Intestinal bleeding Subcutaneous hemorrhage Abducens palsy Axial dystonia Hemophagocytosis Eclabion Abnormal pattern of respiration Hypoxemia Abnormality of the larynx Myelodysplasia Acute myeloid leukemia Hypertonic dehydration Confusion Nocturia Pollakisuria Central diabetes insipidus Enuresis Orthostatic hypotension Polyuria Polydipsia Dehydration Hypotension Wide nose Dry skin Thrombocytosis Autoimmunity Constipation Abnormality of metabolism/homeostasis Long philtrum Short nose Chronic myelogenous leukemia Arterial thrombosis Cerebral ischemia Peripheral arterial stenosis Transient ischemic attack Insulinoma


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