Congestive heart failure, and High myopia

Diseases related with Congestive heart failure and High myopia

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

Top matches:

Severe achondroplasia-developmental delay-acanthosis nigricans syndrome is characterised by the association of severe achondroplasia with developmental delay and acanthosis nigricans. It has been described in four unrelated individuals. Structural central nervous system anomalies, seizures and hearing loss were also reported, together with bowing of the clavicle, femur, tibia and fibula in some cases. The syndrome is caused by a Lys650Met substitution in the kinase domain of fibroblast growth factor receptor 3 (encoded by the FGFR3 gene; 4p16.3).

SEVERE ACHONDROPLASIA-DEVELOPMENTAL DELAY-ACANTHOSIS NIGRICANS SYNDROME Is also known as saddan|saddan dysplasia

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about SEVERE ACHONDROPLASIA-DEVELOPMENTAL DELAY-ACANTHOSIS NIGRICANS SYNDROME

Spondyloepiphyseal dysplasia congenita is an autosomal dominant chondrodysplasia characterized by disproportionate short stature (short trunk), abnormal epiphyses, and flattened vertebral bodies. Skeletal features are manifested at birth and evolve with time. Other features include myopia and/or retinal degeneration with retinal detachment and cleft palate (summary by Anderson et al., 1990).

SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA; SEDC Is also known as sed congenita|spondyloepiphyseal dysplasia, congenital type

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA; SEDC

Ehlers-Danlos syndrome, kyphoscoliotic type (EDKT) is a form of Ehlers-Danlos syndrome characterized by severe hypotonia and kyphoscoliosis at birth, generalized joint hyperextensibility and ocular globe fragility.

EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE Is also known as eds vi|eds6|ehlers-danlos syndrome, oculoscoliotic type|ehlers-danlos syndrome, ocular-scoliotic type|eds, oculoscoliotic type|eds6a, formerly|nevo syndrome|eds via|ehlers-danlos syndrome, type vi|ehlers-danlos syndrome, type via, formerly|eds, kyphoscoli

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness
  • Muscular hypotonia
  • Cryptorchidism


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE

Other less relevant matches:

Glycogen storage disease due to LAMP-2 (Lysosomal-Associated Membrane Protein 2) deficiency is a lysosomal glycogen storage disease characterised by severe cardiomyopathy and variable degrees of muscle weakness, frequently associated with intellectual deficit.

GLYCOGEN STORAGE DISEASE DUE TO LAMP-2 DEFICIENCY Is also known as vacuolar cardiomyopathy and myopathy, x-linked|antopol disease|gsd due to lamp-2 deficiency|lysosomal glycogen storage disease without acid maltase deficiency, formerly|glycogenosis due to lamp-2 deficiency|gsd2b, formerly|gsd iib, formerly|glycogen stora

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Muscle weakness
  • Pain
  • Cognitive impairment


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about GLYCOGEN STORAGE DISEASE DUE TO LAMP-2 DEFICIENCY

Medium match CHAR SYNDROME

Char syndrome is characterized by the triad of patent ductus arteriosus (PDA), facial dysmorphism and hand anomalies.

CHAR SYNDROME Is also known as patent ductus arteriosus with facial dysmorphism and abnormal fifth digits

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Hypertelorism
  • Strabismus
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about CHAR SYNDROME

Congenital cataract - hypertrophic cardiomyopathy - mitochrondrial myopathy (CCM) is a mitochondrial disease (see this term) characterized by cataracts, hypertrophic cardiomyopathy, muscle weakness and lactic acidosis after exercise.

CONGENITAL CATARACT-HYPERTROPHIC CARDIOMYOPATHY-MITOCHONDRIAL MYOPATHY SYNDROME Is also known as mtdps10|sengers syndrome|cardiomyopathy and cataract|mitochondrial dna depletion syndrome 10 (cardiomyopathic type)

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Growth delay
  • Nystagmus


SOURCES: OMIM ORPHANET MENDELIAN

More info about CONGENITAL CATARACT-HYPERTROPHIC CARDIOMYOPATHY-MITOCHONDRIAL MYOPATHY SYNDROME

Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) is a mitochondrial disorder of long chain fatty acid oxidation characterized in most patients by onset in infancy/ early childhood with hypoketotic hypoglycemia, metabolic acidosis, liver disease, hypotonia and frequently cardiac involvement with arrhythmias and/or cardiomyopathy.

LONG CHAIN 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY Is also known as lchad deficiency|long-chain 3-hydroxyacyl-coenzyme a dehydrogenase deficiency|lchadd

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about LONG CHAIN 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY

Pseudoxanthoma elasticum (PXE) is an inherited connective tissue disorder characterized by progressive calcification and fragmentation of elastic fibers in the skin, retina, and arterial walls.

PSEUDOXANTHOMA ELASTICUM Is also known as pxe|gronblad-strandberg-touraine syndrome|gronblad-strandberg syndrome

Related symptoms:

  • Scoliosis
  • Growth delay
  • High palate
  • Visual impairment
  • Hypertension


SOURCES: ORPHANET OMIM MENDELIAN

More info about PSEUDOXANTHOMA ELASTICUM

Arterial tortuosity syndrome (ATS) is a rare connective tissue disorder characterized by tortuosity and elongation of the large and medium-sized arteries and a propensity towards aneurysm formation, vascular dissection, and stenosis of the pulmonary arteries.

ARTERIAL TORTUOSITY SYNDROME Is also known as ats

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Scoliosis
  • Hypertelorism
  • Strabismus


SOURCES: ORPHANET MENDELIAN

More info about ARTERIAL TORTUOSITY SYNDROME

Singleton-Merten dysplasia is characterized by dental dysplasia, progressive calcification of the thoracic aorta with stenosis, osteoporosis and expansion of the marrow cavities in hand bones. Additional features included generalized muscle weakness and atrophy, and chronic psoriasiform skin eruptions. It has been reported in four unrelated patients (male and female) and in a family with multiple affected members (male).

SINGLETON-MERTEN DYSPLASIA Is also known as singleton-merten syndrome

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Growth delay
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about SINGLETON-MERTEN DYSPLASIA

Top 5 symptoms//phenotypes associated to Congestive heart failure and High myopia

Symptoms // Phenotype % cases
Myopia Very Common - Between 80% and 100% cases
Hypertension Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Muscular hypotonia Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Generalized hypotonia

Uncommon Symptoms - Between 30% and 50% cases

Muscle weakness Respiratory distress Retinopathy Visual loss Myopathy Growth delay Scoliosis Glaucoma Hypertrophic cardiomyopathy Cardiomyopathy Generalized muscle weakness Redundant skin Hip dislocation Hypertelorism Broad forehead Fatigue Talipes equinovarus Hyperextensible skin Malar flattening Pain Dilated cardiomyopathy Gait disturbance Strabismus Joint hyperflexibility Cardiac arrest Hearing impairment Abnormal electroretinogram Visual impairment Cardiorespiratory arrest Osteopenia Depressed nasal bridge Dilatation Respiratory insufficiency Seizures Craniosynostosis Kyphosis

Rare Symptoms - Less than 30% cases

Corneal dystrophy Arachnodactyly Blindness Edema Motor delay Thin skin Abnormality of metabolism/homeostasis Arterial stenosis Stroke Inguinal hernia Osteoporosis Mitral valve prolapse Esotropia Gastrointestinal hemorrhage Joint laxity Polyneuropathy Bruising susceptibility Aortic dissection Intracranial hemorrhage Cardiomegaly Failure to thrive Tachypnea Macrocephaly Clinodactyly of the 5th finger Abnormality of cardiovascular system morphology Short nose Ptosis Abnormal facial shape Chorioretinal atrophy Multiple lipomas Skeletal myopathy Abnormal retinal morphology Exercise intolerance Decreased liver function Pigmentary retinopathy Aortic aneurysm Scarring Abnormality of the liver Mental deterioration Reduced visual acuity Pes cavus Elevated serum creatine phosphokinase Arrhythmia Skeletal muscle atrophy Hepatomegaly Myocardial infarction Coxa valga Telangiectasia of the skin Aortic root aneurysm Keratoconus Low-set ears Blue sclerae Dyspnea Polydactyly Coxa vara Short stature Nystagmus Waddling gait Cataract Retinal detachment Brain atrophy Hernia Midface retrusion Back pain Genu valgum Micromelia Severe short stature Respiratory failure Gastroesophageal reflux Pectus carinatum Platyspondyly Skeletal dysplasia Lumbar hyperlordosis Hyperlordosis Pulmonary arterial hypertension Exotropia Rhizomelia Sleep apnea Preeclampsia Small for gestational age Cholestatic liver disease Hypoketotic hypoglycemia Recurrent hypoglycemia Papule Hip subluxation Mitral valve calcification Skin rash Aortic valve calcification Pruritus Rhabdomyolysis Shallow acetabular fossae Tendon rupture Loss of consciousness Abnormality of skin pigmentation Reduced consciousness/confusion Renal insufficiency Hypothyroidism Hypocalcemia Decreased activity of 3-hydroxyacyl-CoA dehydrogenase Posterior staphyloma Reye syndrome-like episodes Abnormality of acid-base homeostasis Acute hepatic steatosis 3-hydroxydicarboxylic aciduria High palate Gastrointestinal inflammation Premature loss of permanent teeth Abnormal chorioretinal morphology Unerupted tooth Hepatic encephalopathy Intrauterine growth retardation Abnormal left ventricle morphology Dentinogenesis imperfecta limited to primary teeth Decreased plasma carnitine Elevated plasma acylcarnitine levels Hypopigmentation of the skin Sensorimotor neuropathy Premature ovarian insufficiency Fatty replacement of skeletal muscle Decreased activity of mitochondrial respiratory chain Abnormal myelination 3-Methylglutaconic aciduria Organic aciduria Right ventricular hypertrophy Meningocele Mitochondrial myopathy Hypoplasia of the brainstem Abnormality of mitochondrial metabolism Recurrent upper respiratory tract infections Infantile axial hypotonia Easy fatigability Eosinophilia Ragged-red muscle fibers Hypoplastic distal radial epiphyses Hemiparesis Aciduria Expanded metacarpals with widened medullary cavities Increased serum lactate Lactic acidosis Congenital cataract Inferior vermis hypoplasia Exercise-induced lactic acidemia Abnormality of retinal pigmentation Nyctalopia Anorexia Peripheral demyelination Postural instability Coma Metabolic acidosis Hepatic steatosis Retinal dystrophy Hepatic failure Nausea Peripheral axonal neuropathy Hypoplasia of the tooth germ Abnormal muscle fiber protein expression Elevated hepatic transaminase Hypoglycemia Aortic arch calcification Photophobia Jaundice Abdominal pain Vomiting Expanded metatarsals with widened medullary cavities Peripheral neuropathy Feeding difficulties Depletion of mitochondrial DNA in muscle tissue Muscle fiber atrophy Hiatus hernia Subvalvular aortic stenosis Anemia Median cleft lip and palate Long palm Keratoglobus Arterial calcification Abnormal carotid artery morphology Subcutaneous calcification Vascular calcification Abnormality of the zygomatic bone Accelerated atherosclerosis Civatte bodies Abnormality of connective tissue Avascular necrosis of the capital femoral epiphysis Abnormality of the dentition Renovascular hypertension Recurrent infections Metamorphopsia Angioid streaks of the fundus Recurrent respiratory infections Intermittent claudication Retinal hemorrhage Thin upper lip vermilion Abnormal endocardium morphology Femoral hernia Hyperkeratotic papule Carious teeth Medial calcification of small arteries Prematurely aged appearance Rocker bottom foot Pyloric stenosis Esophagitis Short palpebral fissure Specific learning disability Hip dysplasia Long face Blepharophimosis Macrotia Abnormal atrioventricular valve morphology Abnormal myocardium morphology Medial calcification of medium-sized arteries Premature occlusive vascular stenosis Erythematous papule Subretinal fluid Peau d'orange Peripapillary chorioretinal atrophy Medial calcification of large arteries Generalized arterial calcification Localized skin lesion Myocarditis Choroidal neovascularization Ectopic calcification Onycholysis Mitral regurgitation Hemiplegia/hemiparesis Tricuspid regurgitation Acne Abnormality of the thorax Ischemic stroke Cutis laxa Atherosclerosis Macular degeneration Nephrocalcinosis Subcutaneous nodule Scaling skin Coronary artery atherosclerosis Abnormality of the cardiovascular system Cerebral calcification Abnormality of the skin Psoriasiform dermatitis Epiphora Pulmonary artery stenosis Periodontitis Sudden cardiac death High anterior hairline Osteolytic defects of the phalanges of the hand Cutis marmorata Hypermelanotic macule Smooth philtrum Lack of skin elasticity Pulmonary insufficiency Excessive wrinkled skin Hypoplasia of the maxilla Arteriosclerosis Cutaneous photosensitivity Pulmonary edema Abnormal mitral valve morphology Abnormal thrombocyte morphology Redundant neck skin Restrictive cardiomyopathy Angina pectoris Striae distensae Peripheral arterial stenosis Abnormality of the cerebral vasculature Mitral stenosis Decreased body weight Drusen Thickened nuchal skin fold Abnormality of the mouth Severe intrauterine growth retardation Severe vision loss Aortic valve stenosis Osteolysis Heart block Left ventricular systolic dysfunction Feeding difficulties in infancy Neonatal short-trunk short stature Pes planus Kyphoscoliosis Prominent forehead Pectus excavatum Epicanthus Flexion contracture Cryptorchidism Delayed calcaneal ossification Limitation of knee mobility Sciatica Dolichocephaly Delayed pubic bone ossification Retinoschisis Limited hip movement Cervical myelopathy Flattened epiphysis Limited elbow movement Myelopathy Ovoid vertebral bodies Barrel-shaped chest Vitreoretinopathy Neonatal hypotonia Talipes Disproportionate short stature Joint contracture of the hand Disproportionate tall stature Heart murmur Aortic regurgitation Torticollis Spina bifida occulta Joint dislocation Hyperbilirubinemia Increased body weight Recurrent pneumonia Spina bifida Insulin resistance Unsteady gait Tall stature Dental crowding Decreased fetal movement Oligohydramnios Overgrowth Sepsis Abnormal bleeding Microcornea Single transverse palmar crease Joint hypermobility Hypoplasia of the odontoid process Progressive sensorineural hearing impairment Abnormality of the hip bone Thoracic hypoplasia Aplasia/Hypoplasia of the mandible Fibular bowing Metaphyseal chondrodysplasia Cloverleaf skull Central apnea Megalencephaly Abnormality of the clavicle Tibial bowing Femoral bowing Mesomelia Acanthosis nigricans Sensorineural hearing impairment Wide anterior fontanel Epidermal acanthosis Generalized-onset seizure Otitis media Severe global developmental delay Intellectual disability, severe Hydrocephalus Hypoplasia of the corpus callosum Frontal bossing Microcephaly Enlarged cerebellum Cleft palate Restrictive ventilatory defect Osteoarthritis Short thorax Vestibular dysfunction Bowing of the legs Spondyloepiphyseal dysplasia Genu varum Growth abnormality Abnormality of epiphysis morphology Abnormal form of the vertebral bodies Abnormality of the metaphysis Abnormal lung morphology Limb undergrowth Short neck Limitation of joint mobility Pulmonary hypoplasia Flat face Retinal degeneration Paresthesia Narrow chest Autoimmunity Respiratory tract infection Apnea Arthritis Atrophic scars Slender finger Acidosis Long philtrum Everted lower lip vermilion Thick vermilion border Thick eyebrow Toe syndactyly Short philtrum Protruding ear High forehead Patent ductus arteriosus Clinodactyly Syndactyly Intellectual disability, mild Sleep disturbance Anteverted nares Ventricular septal defect Downslanted palpebral fissures Wide nasal bridge Glycogen accumulation in muscle fiber lysosomes Increased cerebral lipofuscin Suicidal ideation Macular hypopigmentation Myocardial necrosis Ventricular preexcitation Highly arched eyebrow Hypodontia Exercise-induced muscle cramps Triangular mouth Cerebellar hypoplasia Thrombocytopenia Headache Distal/middle symphalangism of 5th finger Mesoaxial foot polydactyly Symphalangism of the 5th finger Muscular ventricular septal defect Parasomnia No permanent dentition Mesoaxial hand polydactyly Persistence of primary teeth Broad nasal tip Short middle phalanx of the 5th finger Prominent occiput Supernumerary nipple Hand polydactyly Coarse hair Bicuspid aortic valve Finger clinodactyly Depressed nasal ridge Coarctation of aorta Premature birth Impaired myocardial contractility Retinal pigment epithelial mottling Soft skin Wrist drop Proximal muscle weakness Hyperactivity Depressivity Cognitive impairment Progressive congenital scoliosis Spontaneous rupture of the globe Molluscoid pseudotumors Arterial rupture Decreased pulmonary function Moderate myopia Premature rupture of membranes Limb muscle weakness Palmoplantar cutis laxa Arterial dissection Dural ectasia Keloids Thoracic kyphoscoliosis Lens luxation Subcutaneous hemorrhage Bladder diverticulum Generalized joint laxity Atypical scarring of skin Abnormality of the eye Distal amyotrophy Muscle flaccidity EMG: myopathic abnormalities Autophagic vacuoles Myofibrillar myopathy Myocardial fibrosis Wolff-Parkinson-White syndrome Reduced ejection fraction Abnormality of the gastrointestinal tract Hypokinesia Generalized amyotrophy Neurodevelopmental delay Ventricular arrhythmia Cone/cone-rod dystrophy Distal sensory impairment Respiratory insufficiency due to muscle weakness Ventricular tachycardia Hyperlipidemia Left ventricular hypertrophy Palpitations Atrial fibrillation Ventricular hypertrophy Psychosis Progressive visual loss Chest pain Expanded phalanges with widened medullary cavities


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