Congestive heart failure, and Proptosis

Diseases related with Congestive heart failure and Proptosis

In the following list you will find some of the most common rare diseases related to Congestive heart failure and Proptosis that can help you solving undiagnosed cases.

Top matches:

Thyrotoxic periodic paralysis (TPP) is a rare neurological disease characterized by recurrent episodes of paralysis and hypokalemia during a thyrotoxic state.

THYROTOXIC PERIODIC PARALYSIS Is also known as thyrotoxic hypokalemic periodic paralysis

Related symptoms:

  • Muscle weakness
  • Hypertension
  • Hyperreflexia
  • Tremor
  • Obesity


SOURCES: OMIM ORPHANET MENDELIAN

More info about THYROTOXIC PERIODIC PARALYSIS

Medium match TETRALOGY OF FALLOT

Tetralogy of Fallot is a congenital cardiac malformation that consists of an interventricular communication, also known as a ventricular septal defect, obstruction of the right ventricular outflow tract, override of the ventricular septum by the aortic root, and right ventricular hypertrophy.

Related symptoms:

  • Growth delay
  • Muscle weakness
  • Cryptorchidism
  • Anemia
  • Brachydactyly


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about TETRALOGY OF FALLOT

Waldenström macroglobulinemia (WM) is an indolent B-cell lymphoproliferative disorder characterized by the accumulation of monoclonal cells in the bone marrow and peripheral lymphoid tissues, and associated with the production of serum immunoglobulin M (IgM) monoclonal protein.

Related symptoms:

  • Hearing impairment
  • Ataxia
  • Neoplasm
  • Anemia
  • Peripheral neuropathy


SOURCES: OMIM ORPHANET MENDELIAN

More info about WALDENSTRÖM MACROGLOBULINEMIA

Other less relevant matches:

Frank-ter Haar syndrome (formerly considered as an autosomal recessive form of Melnick-Needles syndrome; see this term) is defined by megalocornea, multiple skeletal anomalies, characteristic facial dysmorphism (wide fontanels, prominent forehead, hypertelorism, prominent eyes, full cheeks and micrognathia) and developmental delay.

FRANK-TER HAAR SYNDROME Is also known as ter haar syndrome|borrone dermatocardioskeletal syndrome|melnick-needles syndrome, autosomal recessive, formerly

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about FRANK-TER HAAR SYNDROME

Medium match WERNER SYNDROME

Werner syndrome (WS) is a rare inherited syndrome characterized by premature aging with onset in the third decade of life and with cardinal clinical features including bilateral cataracts, short stature, graying and thinning of scalp hair, characteristic skin disorders and premature onset of additional age-related disorders.

WERNER SYNDROME Is also known as ws|adult progeria

Related symptoms:

  • Short stature
  • Neoplasm
  • Pain
  • Cataract
  • Visual impairment


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about WERNER SYNDROME

Medium match ROBERTS SYNDROME

Roberts syndrome (RBS) is characterized by pre- and postnatal growth retardation, severe symmetric limb reduction defects, craniofacial anomalies and severe intellectual deficit. SC phocomelia is a milder form of RBS.

ROBERTS SYNDROME Is also known as pseudothalidomide syndrome|roberts-sc phocomelia syndrome|sc pseudothalidomide syndrome|sc phocomelia

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about ROBERTS SYNDROME

Larsen-like syndrome, B3GAT3 type is a rare, genetic, primary bone dysplasia characterized by laxity, dislocations and contractures of the joints, short stature, foot deformities (e.g. clubfeet), broad tips of fingers and toes, short neck, dysmorphic facial features (hypertelorism, downslanting palpebral fissures, upturned nose with anteverted nares, high arched palate) and various cardiac malformations. Severe disease is associated with multiple fractures, osteopenia, arachnodactyly and blue sclerae. A broad spectrum of additional features, including scoliosis, radio-ulnar synostosis, mild developmental delay, and various eye disorders (glaucoma, amblyopia, hyperopia, astigmatism, ptosis), are also reported.

LARSEN-LIKE SYNDROME, B3GAT3 TYPE Is also known as multiple joint dislocations-short stature-craniofacial dysmorphism-congenital heart defects syndrome|larsen syndrome, autosomal recessive, formerly

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about LARSEN-LIKE SYNDROME, B3GAT3 TYPE

Medium match C SYNDROME

C syndrome is a rare multiple congenital anomaly/intellectual disability syndrome characterized by trigonocephaly and metopic suture synostosis, dysmorphic facial features, short neck, skeletal anomalies, and variable intellectual disability.

C SYNDROME Is also known as opitz c trigonocephaly|trigonocephaly syndrome|trigonocephaly c syndrome|otcs|opitz trigonocephaly syndrome|opitz trigonocephaly c syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about C SYNDROME

Noonan syndrome (NS) is an autosomal dominant disorder characterized by short stature, facial dysmorphism, and a wide spectrum of congenital heart defects. The distinctive facial features consist of a broad forehead, hypertelorism, downslanting palpebral fissures, a high-arched palate, and low-set, posteriorly rotated ears. Cardiac involvement is present in up to 90% of patients. Pulmonic stenosis and hypertrophic cardiomyopathy are the most common forms of cardiac disease, but a variety of other lesions are also observed. Additional relatively frequent features include multiple skeletal defects (chest and spine deformities), webbed neck, mental retardation, cryptorchidism, and bleeding diathesis (summary by Tartaglia et al., 2002). Genetic Heterogeneity of Noonan SyndromeSee also NS3 (OMIM ), caused by mutation in the KRAS gene (OMIM ); NS4 (OMIM ), caused by mutation in the SOS1 gene (OMIM ); NS5 (OMIM ), caused by mutation in the RAF1 gene (OMIM ); NS6 (OMIM ), caused by mutation in the NRAS gene (OMIM ); NS7 (OMIM ), caused by mutation in the BRAF gene (OMIM ); NS8 (OMIM ), caused by mutation in the RIT1 gene (OMIM ); NS9 (OMIM ), caused by mutation in the SOS2 gene (OMIM ); and NS10 (OMIM ), caused by mutation in the LZTR1 gene (OMIM ).See also NS2 (OMIM ) for a possible autosomal recessive form of NS; Noonan syndrome-like disorder with loose anagen hair-1 (NSLH1 ), caused by mutation in the SHOC2 gene (OMIM ); Noonan syndrome-like disorder with loose anagen hair-2 (NSLH2 ), caused by mutation in the PPP1CB gene (OMIM ); and Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia (NSLL ), caused by mutation in the CBL gene (OMIM ).Mutations in the neurofibromin gene (NF1 ), which is the site of mutations causing classic neurofibromatosis type I (NF1 ), have been found in neurofibromatosis-Noonan syndrome (NFNS ).

NOONAN SYNDROME 1; NS1 Is also known as female pseudo-turner syndrome|male turner syndrome|noonan syndrome|turner phenotype with normal karyotype

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NOONAN SYNDROME 1; NS1

Hutchinson-Gilford progeria syndrome is a rare, fatal, autosomal dominant and premature aging disease, beginning in childhood and characterized by growth reduction, failure to thrive, a typical facial appearance (prominent forehead, protuberant eyes, thin nose with a beaked tip, thin lips, micrognathia and protruding ears) and distinct dermatologic features (generalized alopecia, aged-looking skin, sclerotic and dimpled skin over the abdomen and extremities, prominent cutaneous vasculature, dyspigmentation, nail hypoplasia and loss of subcutaneous fat).

HUTCHINSON-GILFORD PROGERIA SYNDROME Is also known as progeria|hgps

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Scoliosis
  • Growth delay


SOURCES: OMIM ORPHANET MENDELIAN

More info about HUTCHINSON-GILFORD PROGERIA SYNDROME

Top 5 symptoms//phenotypes associated to Congestive heart failure and Proptosis

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Growth delay Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Micrognathia Common - Between 50% and 80% cases
Flexion contracture Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Congestive heart failure and Proptosis. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Abnormality of cardiovascular system morphology Ventricular septal defect Brachydactyly Neoplasm Hypertelorism Global developmental delay Abnormal heart morphology Cryptorchidism Clinodactyly of the 5th finger Hypertension Osteoporosis Seizures Clinodactyly Thin vermilion border High palate Short neck Scoliosis Abnormal facial shape Downslanted palpebral fissures Pain Depressed nasal bridge Cataract Low-set ears Pulmonic stenosis Chest pain Hypogonadism Hearing impairment Leukemia Intrauterine growth retardation Broad forehead Fever Patent ductus arteriosus Abnormal cardiac septum morphology Cleft palate Microcephaly Myocardial infarction Hypotrichosis Anteverted nares Radial deviation of finger Talipes equinovarus Hernia Wide nasal bridge Pectus excavatum Motor delay Prominent forehead Brachycephaly Glaucoma Osteopenia Kyphoscoliosis Paralysis Polyhydramnios Constipation Sparse hair Posteriorly rotated ears Hip dislocation Joint stiffness Left ventricular hypertrophy

Rare Symptoms - Less than 30% cases

Abnormality of the dentition Alopecia Skeletal muscle atrophy Abnormality of the skeletal system Broad alveolar ridges Sensorineural hearing impairment Abnormally large globe Rod-cone dystrophy Congenital glaucoma Premature loss of teeth Carcinoma Smooth philtrum Cardiomyopathy Bowing of the long bones Genu valgum Corneal opacity Delayed eruption of teeth Wide mouth Midface retrusion Mitral valve prolapse Gingival overgrowth Metatarsus adductus Inguinal hernia Wormian bones Kyphosis Short chin Hirsutism Hypertrophic cardiomyopathy Intellectual disability, severe Osteolysis Muscle weakness Convex nasal ridge Clitoral hypertrophy Postnatal growth retardation Craniosynostosis Patent foramen ovale Bicuspid aortic valve Cutis laxa Blue sclerae Aortic valve stenosis Bilateral single transverse palmar creases Joint dislocation Sandal gap Lymphedema Radioulnar synostosis Amblyopia Dilatation Low posterior hairline Cardiomegaly Congenital diaphragmatic hernia Upper limb undergrowth Webbed neck Short metacarpal Talipes Narrow chest Hypermetropia Microtia Narrow mouth Delayed skeletal maturation Generalized hypotonia Thrombocytopenia Malar flattening Multiple joint contractures Premature graying of hair Decreased body weight Failure to thrive in infancy Insulin resistance Increased bone mineral density Hypergonadotropic hypogonadism Atherosclerosis Melanoma Dermal atrophy Lipodystrophy Myelodysplasia Limitation of joint mobility Abnormality of the thorax High pitched voice Lipoatrophy Intellectual disability, mild Scleroderma Alopecia of scalp Short nose Epicanthus Strabismus Failure to thrive Lack of skin elasticity Enlarged joints Arteriosclerosis Narrow nasal ridge Small face Generalized osteoporosis Nystagmus Low-set, posteriorly rotated ears Dental malocclusion Muscular hypotonia Hemiparesis Splenomegaly Stroke Anemia Respiratory distress Hepatomegaly Peripheral neuropathy Prolonged QT interval Dyspnea Cyanosis Tetralogy of Fallot Ventricular hypertrophy Headache Double outlet right ventricle Weight loss Underdeveloped supraorbital ridges Heart murmur Toe syndactyly Multiple joint dislocation Talipes equinovalgus Nasal speech Hypoplastic nipples Knee dislocation Lumbar scoliosis Abnormality of the abdominal wall Endocardial fibroelastosis Deep palmar crease Renal cell carcinoma Postaxial polydactyly Short clavicles 11 pairs of ribs Overlapping fingers Limb undergrowth Aortic root aneurysm Thrombocytosis Narrow nasal bridge Abnormal EKG Absent eyelashes Intracranial hemorrhage Hypertropia Shoulder dislocation Metaphyseal widening Hyperinsulinemia Cleft lip Neonatal hypotonia Polydactyly Upslanted palpebral fissure Agenesis of corpus callosum Syndactyly Long philtrum Micromelia Exertional dyspnea Premature ovarian insufficiency Thin ribs Bilateral elbow dislocations Metacarpophalangeal joint hyperextensibility Transient ischemic attack Spatulate thumbs Prominent antitragus Keratoconjunctivitis sicca Oral cleft Enlarged metaphyses Accessory carpal bones Broad distal phalanges of all fingers Hyperphosphatemia Fragile nails Flat face Mitral valve calcification Abnormal lung morphology Mitral regurgitation Bird-like facies Prominent scalp veins Hypoplastic facial bones Microdontia Reticulated skin pigmentation Old-aged sensorineural hearing impairment Esotropia Craniofacial disproportion Recurrent fractures Thick eyebrow Arachnodactyly Widely patent fontanelles and sutures Bilateral coxa valga Abnormality of the foot Narrow nasal tip Carotid artery stenosis Absence of pubertal development Pectus carinatum Joint laxity Pes planus Insulin-resistant diabetes mellitus at puberty Cerebral cortical atrophy Abnormal trabecular bone morphology Regional abnormality of skin Arteriosclerosis of small cerebral arteries Parietal bossing Rhizomelia Down-sloping shoulders Prolonged prothrombin time Hypercholesterolemia Ovoid vertebral bodies Restrictive ventilatory defect Osteolytic defects of the phalanges of the hand Prominent superficial veins Angina pectoris Aplasia/Hypoplasia of the earlobes Thoracic hypoplasia Precocious atherosclerosis Thin bony cortex Decreased serum estradiol Bilateral talipes equinovarus Spondyloepiphyseal dysplasia Carcinoid tumor Intermittent claudication Hyperextensible skin Aplastic clavicle Hip pain Absence of subcutaneous fat Accelerated skeletal maturation Thin nail Premature coronary artery atherosclerosis Microretrognathia Decreased testosterone in males Sinus tachycardia Elbow flexion contracture Meningitis Corneal arcus Relative macrocephaly Abnormality of the vertebral column Postaxial hand polydactyly Coarctation of aorta Juvenile myelomonocytic leukemia Loose anagen hair Arnold-Chiari malformation Azoospermia Pectus excavatum of inferior sternum Gonadal neoplasm Reduced factor XIII activity Plagiocephaly Nasogastric tube feeding Clumsiness Primary amenorrhea Preductal coarctation of the aorta Amenorrhea Pterygium Postductal coarctation of the aorta Wide intermamillary distance Macrocephaly Abnormal bleeding Dementia Abdominal distention Triangular face Macrotia High, narrow palate Bruising susceptibility Conductive hearing impairment Dilated cardiomyopathy Facial asymmetry Poor suck Elevated alkaline phosphatase Gastroesophageal reflux Asymmetry of the thorax Abnormality of blood and blood-forming tissues Gonadal dysgenesis Arnold-Chiari type I malformation Malignant hyperthermia Drusen Nonimmune hydrops fetalis Atrial flutter Restrictive cardiomyopathy Shield chest Synovitis Schwannoma Multiple lentigines Optic disc hypoplasia Cubitus valgus Lymphangioma Hypoplastic aortic arch Amegakaryocytic thrombocytopenia Superior pectus carinatum Reduced factor XII activity Male infertility Cystic hygroma Neurofibromas Neurofibrosarcoma Panuveitis Abnormality of color vision Leukocytosis Abnormality of the coagulation cascade Carious teeth Abdominal pain Intellectual disability, profound Aspiration Abnormal hair pattern Broad-based gait Postaxial foot polydactyly Anal stenosis Ulnar deviation of finger Abnormality of immune system physiology Dislocated radial head Biparietal narrowing Dental crowding Hypohidrosis Sparse and thin eyebrow Trigonocephaly Hand polydactyly Aplasia/Hypoplasia of the abdominal wall musculature Hypogonadotrophic hypogonadism Coxa valga Aminoaciduria Redundant skin Renal hypoplasia/aplasia Sacral dimple Aplasia/Hypoplasia of the corpus callosum Hyperlipidemia Multicystic kidney dysplasia Horseshoe kidney Abnormality of the genital system Neuroblastoma Omphalocele Abnormality of the helix Thin skin Vomiting Midline facial capillary hemangioma Edema Delayed puberty Atrial septal defect Infertility Myopia Feeding difficulties Cognitive impairment Hepatic steatosis Ptosis Hypodontia Fused sternal ossification centers Thick anterior alveolar ridges Right-to-left shunt Osteoarthritis Growth hormone deficiency Hypoplasia of the ear cartilage Renal cortical cysts Conotruncal defect Pseudohypoaldosteronism Female pseudohermaphroditism Metopic synostosis Abnormality of the anus Accessory oral frenulum Nail dysplasia Abnormality of the cardiovascular system Medulloblastoma Hypertriglyceridemia Acanthosis nigricans Aplasia/Hypoplasia of the testes Hydrocephalus Lymphoma Gingival bleeding Elevated erythrocyte sedimentation rate Cutis marmorata Pleural effusion Urticaria Cranial nerve paralysis Purpura Vasculitis Anorexia Epistaxis Memory impairment Gastrointestinal hemorrhage Migraine Polyneuropathy Raynaud phenomenon Lymphadenopathy Vertigo Malabsorption Autoimmunity Pallor Visual loss Recurrent infections Renal insufficiency Diarrhea Respiratory insufficiency Fatigue Ataxia Absence of the pulmonary valve Tetralogy of Fallot with absent pulmonary valve Pulmonary infiltrates Edema of the lower limbs Overriding aorta Skeletal dysplasia Hip dysplasia Full cheeks Broad nasal tip Single transverse palmar crease Thick vermilion border Short palm Short philtrum Camptodactyly of finger Protruding ear Abnormality of the pinna Camptodactyly Deeply set eye Umbilical hernia Coarse facial features High forehead Hypercoagulability Mandibular prognathia Respiratory failure Polyclonal elevation of IgM Cryoglobulinemia Impaired lymphocyte transformation with phytohemagglutinin Monoclonal immunoglobulin M proteinemia Multifocal epileptiform discharges Retinal hemorrhage Abnormality of neutrophils Normocytic anemia Periorbital edema Reduced consciousness/confusion Abnormality of the retinal vasculature Lymphoproliferative disorder Pulmonary valve atresia Endocarditis Thickened skin Myotonia Abnormality of muscle fibers Periodic paralysis Urinary retention Abnormality of peripheral nerve conduction Graves disease Heat intolerance Hypomagnesemia Hashimoto thyroiditis Thyroiditis Rhabdomyolysis Hyperthyroidism Mildly elevated creatine phosphokinase Hyperkalemia Ventricular fibrillation Ophthalmoparesis Impaired myocardial contractility Hypokalemia Goiter EMG abnormality Muscle stiffness Palpitations Tetraplegia Muscle cramps Tachycardia Lower limb muscle weakness Hyperhidrosis Hyporeflexia Obesity Tremor Hyperreflexia Postprandial hyperglycemia Shortened PR interval Abnormal nasal morphology Dolichocephaly Right ventricular failure Interrupted aortic arch Breathing dysregulation Pulmonary artery atresia Right ventricular hypertrophy Truncus arteriosus Hyperventilation Poor appetite Polycythemia Preauricular pit Clubbing Easy fatigability Increased body weight Sinusitis Respiratory tract infection Increased intramyocellular lipid droplets Recurrent respiratory infections Arrhythmia Thyrotoxicosis with toxic multinodular goitre Thyrotoxicosis with toxic single thyroid nodule Transient hypophosphatemia Decreased urinary potassium Episodic hypokalemia Thyrotoxicosis with diffuse goiter Second degree atrioventricular block Episodic flaccid weakness Respiratory paralysis Late-onset proximal muscle weakness Exercise-induced muscle fatigue Periodic hypokalemic paresis Interphalangeal joint contracture of finger Short phalanx of finger Frontal bossing Poliosis Underdeveloped nasal alae Premature birth Falls Cleft upper lip Finger syndactyly Prominent nasal bridge Retrognathia Microphthalmia Acral lentiginous melanoma Neoplasm of the oral cavity Premature arteriosclerosis Gastrointestinal carcinoma Neoplasm of the small intestine Subcutaneous calcification Abnormal hair whorl Knee flexion contracture Soft tissue sarcoma Chorioretinitis Cutaneous melanoma Thyroid carcinoma White forelock Slender build Abnormality of the testis Pili torti Chondrocalcinosis Peripheral arterial stenosis Abnormality of the cerebral vasculature Osteosarcoma Renal neoplasm Meningioma Short thumb Opacification of the corneal stroma Posterior subcapsular cataract Patellar aplasia Premature separation of centromeric heterochromatin Midface capillary hemangioma Tetraphocomelia Mesomelic arm shortening Progressive flexion contractures Absent earlobe Facial hemangioma Complete duplication of thumb phalanx Aplasia of the ulna Wrist flexion contracture Humeroradial synostosis Phocomelia Long penis Subvalvular aortic stenosis Abnormality of the upper limb Hemangioma Fair hair Low hanging columella Capillary hemangioma Severe intrauterine growth retardation External ear malformation Synostosis of carpal bones Absent radius Hip contracture Aplasia/Hypoplasia of the thumb Absent thumb Short femoral neck Proximal placement of thumb Polycystic kidney dysplasia Hypoplasia of the radius Progeroid facial appearance Pulmonary artery stenosis Wide anterior fontanel Anterior segment developmental abnormality Micropenis Hyperkeratosis Diabetes mellitus Behavioral abnormality Visual impairment Anterior concavity of thoracic vertebrae Cortical irregularity Serpentine fibula Prominent coccyx Broad clavicles Multiple skeletal anomalies Hyperplasia of the maxilla Thoracolumbar kyphosis Vacuolated lymphocytes Buphthalmos Retinal degeneration Concave nasal ridge Beaking of vertebral bodies Genu recurvatum Megalocornea Aseptic necrosis Delayed cranial suture closure Flared metaphysis Tricuspid regurgitation Flat occiput Acne Cholelithiasis Short long bone Abnormality of the metacarpal bones Gynecomastia Retinopathy Nephropathy Neoplasm of the lung Sarcoma Subcapsular cataract Prematurely aged appearance Ovarian neoplasm Secondary amenorrhea Myeloid leukemia Telangiectasia of the skin Aplasia/Hypoplasia of the skin Decreased fertility Polyphagia Squamous cell carcinoma Polyuria Rocker bottom foot Polydipsia Abnormality of the voice Laryngomalacia Small hand Breast carcinoma Macular degeneration Type I diabetes mellitus Spontaneous abortion Hoarse voice Narrow face Abnormality of the hair Skin ulcer Abnormality of retinal pigmentation Sparse scalp hair Type II diabetes mellitus Decreased testicular size Coma Hypopigmentation of the skin Tapering pointed ends of distal finger phalanges


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