Congestive heart failure, and Abnormality of the dentition
Diseases related with Congestive heart failure and Abnormality of the dentition
In the following list you will find some of the most common rare diseases related to Congestive heart failure and Abnormality of the dentition that can help you solving undiagnosed cases.
Top matches:
Low match GLUCOCORTICOID DEFICIENCY 5; GCCD5
Familial glucocorticoid deficiency-5 is characterized by resistance to adrenocorticotropic hormone (ACTH) and isolated glucocorticoid deficiency, with typical biochemical findings of low serum cortisol levels and high plasma ACTH. Patients commonly present with hyperpigmentation (Prasad et al., 2014).For a discussion of genetic heterogeneity of familial glucocorticoid deficiency, see GCCD1 (OMIM ).
Related symptoms:
- Ventricular septal defect
- Congestive heart failure
- Truncus arteriosus
More info about GLUCOCORTICOID DEFICIENCY 5; GCCD5
Low match CARVAJAL SYNDROME
Woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome is characterized by woolly hair, palmoplantar keratoderma and dilated cardiomyopathy principally affecting the left ventricle.
CARVAJAL SYNDROME Is also known as keratoderma with woolly hair type ii|palmoplantar keratoderma with left ventricular cardiomyopathy and woolly hair|woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome|wooly hair-palmoplantar hyperkeratosis-dilated cardiomyopathy syndrome|
Related symptoms:
- Cardiomyopathy
- Edema
- Congestive heart failure
- Hyperkeratosis
- Dilated cardiomyopathy
SOURCES: OMIM ORPHANET MENDELIAN
More info about CARVAJAL SYNDROMELow match AUTOSOMAL DOMINANT HYPOPHOSPHATEMIC RICKETS
Autosomal dominant hypophosphatemic rickets (ADHR) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia.
AUTOSOMAL DOMINANT HYPOPHOSPHATEMIC RICKETS Is also known as adhr|autosomal dominant hypophosphatemia
Related symptoms:
- Short stature
- Muscle weakness
- Fatigue
- Congestive heart failure
- Abnormality of the dentition
More info about AUTOSOMAL DOMINANT HYPOPHOSPHATEMIC RICKETS
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Other less relevant matches:
Low match CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR, KERATODERMA, AND TOOTH AGENESIS; DCWHKTA
Related symptoms:
- Pain
- Cardiomyopathy
- Congestive heart failure
- Dilatation
- Arrhythmia
More info about CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR, KERATODERMA, AND TOOTH AGENESIS; DCWHKTA
Low match OSTEOGENESIS IMPERFECTA, TYPE XVI; OI16
Osteogenesis imperfecta type XVI (OI16) is characterized by prenatal onset of multiple fractures of ribs and long bones, blue sclerae, decreased ossification of the skull, and severe demineralization. Heterozygous family members may exhibit recurrent fractures with minimal trauma, osteopenia, and blue sclerae (Keller et al., 2018; Lindahl et al., 2018).
OSTEOGENESIS IMPERFECTA, TYPE XVI; OI16 Is also known as oi, type xvi
Related symptoms:
- Short stature
- Hearing impairment
- Hepatomegaly
- Congestive heart failure
- Constipation
More info about OSTEOGENESIS IMPERFECTA, TYPE XVI; OI16
Low match DIFFUSE CUTANEOUS SYSTEMIC SCLEROSIS
Diffuse cutaneous systemic sclerosis (dcSSc) is a subtype of Systemic Sclerosis (SSc; see this term) characterized by truncal and acral skin fibrosis with an early and significant incidence of diffuse involvement (interstitial lung disease, oliguric renal failure, diffuse gastrointestinal disease, and myocardial involvement).
DIFFUSE CUTANEOUS SYSTEMIC SCLEROSIS Is also known as progressive cutaneous systemic scleroderma|diffuse cutaneous systemic scleroderma|progressive cutaneous systemic sclerosis
Related symptoms:
- Muscle weakness
- Pain
- Flexion contracture
- Hypertension
- Dysphagia
More info about DIFFUSE CUTANEOUS SYSTEMIC SCLEROSIS
Low match WHIM SYNDROME
WHIM (warts, hypogammaglobulinemia, infections, and myelokathexis) syndrome is a congenital autosomal dominant immune deficiency characterized by abnormal retention of mature neutrophils in the bone marrow (myelokathexis) and occasional hypogammaglobulinemia, associated with an increased risk for bacterial infections and a susceptibility to human papillomavirus (HPV) induced lesions (cutaneous warts, genital dysplasia and invasive mucosal carcinoma).
WHIM SYNDROME Is also known as warts, hypogammaglobulinemia, infections, and myelokathexis syndrome|warts-infections-leukopenia-myelokatexis syndrome|wilm|warts-hypogammaglobulinemia-infections-myelokathexis syndrome
Related symptoms:
- Hearing impairment
- Neoplasm
- Fever
- Congestive heart failure
- Immunodeficiency
SOURCES: MESH OMIM ORPHANET MENDELIAN
More info about WHIM SYNDROMELow match FAMILIAL MITRAL VALVE PROLAPSE
Mitral valve prolapse (MVP) has a prevalence of approximately 2 to 3% in the general population. It is characterized by fibromyxomatous changes in mitral leaflet tissue, with upward displacement of 1 or both leaflets into the left atrium during systole; MVP is diagnosed when the movement of the mitral leaflets exceeds 2 mm. In classic MVP, leaflets are at least 5 mm thick, whereas in nonclassic MVP, they are less than 5 mm thick. Auscultatory findings, when present, consist of a midsystolic click and/or a late systolic murmur. The natural history of MVP varies from benign, with a normal life expectancy, to severe complications associated with the development of significant mitral regurgitation, including congestive heart failure, bacterial endocarditis, atrial fibrillation, thromboembolism, and even sudden death. However, complications are uncommon, affecting less than 3% of individuals with MVP (Freed et al., 1999; Grau et al., 2007; Delling and Vasan, 2014).Grau et al. (2007) provided a detailed review of the genetics of mitral valve prolapse. Delling and Vasan (2014) reviewed the epidemiology and pathophysiology of MVP, with discussion of disease progression, genetics, and molecular basis.
FAMILIAL MITRAL VALVE PROLAPSE Is also known as myxomatous mitral valve prolapse 1|barlow syndrome|pmv|mmvp1|floppy mitral valve|myxomatous valvular disease, familial|mitral regurgitation, familial|mvp prolapsed mitral valve|mitral valve prolapse, myxomatous 1|click-murmur syndrome|mitral valve prolaps
Related symptoms:
- Intellectual disability
- Short stature
- Growth delay
- Micrognathia
- Pain
SOURCES: OMIM ORPHANET MENDELIAN
More info about FAMILIAL MITRAL VALVE PROLAPSELow match OSTEOGENESIS IMPERFECTA TYPE 2
Osteogenesis imperfecta type II is a lethal type of osteogenesis imperfecta (OI; see this term), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. Patients with type II present multiple rib and long bone fractures at birth, marked deformities, broad long bones, low density on skull X-rays, and dark sclera.
OSTEOGENESIS IMPERFECTA TYPE 2 Is also known as osteogenesis imperfecta congenita, perinatal lethal form|osteogenesis imperfecta congenita|oi type 2|lethal osteogenesis imperfecta|oi, type ii|oic|vrolik type of osteogenesis imperfecta
Related symptoms:
- Microcephaly
- Cataract
- Respiratory insufficiency
- Congestive heart failure
- Abnormality of the dentition
SOURCES: ORPHANET MESH OMIM MENDELIAN
More info about OSTEOGENESIS IMPERFECTA TYPE 2Low match CEDNIK SYNDROME
CEDNIK syndrome is a neurocutaneaous syndrome characterized by severe developmental abnormalities of the nervous system and aberrant differentiation of the epidermis.
CEDNIK SYNDROME Is also known as cerebral dysgenesis-neuropathy-ichthyosis-palmoplantar keratoderma syndrome|cednik syndrome
Related symptoms:
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Hearing impairment
SOURCES: MESH OMIM ORPHANET MENDELIAN
More info about CEDNIK SYNDROMETop 5 symptoms//phenotypes associated to Congestive heart failure and Abnormality of the dentition
| Symptoms // Phenotype | % cases |
|---|---|
| Short stature | Uncommon - Between 30% and 50% cases |
| Recurrent fractures | Uncommon - Between 30% and 50% cases |
| Reduced number of teeth | Uncommon - Between 30% and 50% cases |
| Pain | Uncommon - Between 30% and 50% cases |
| Carious teeth | Uncommon - Between 30% and 50% cases |
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Other less frequent symptoms
Patients with Congestive heart failure and Abnormality of the dentition. may also develop some of the following symptoms:
Uncommon Symptoms - Between 30% and 50% cases
Hearing impairment Palmoplantar keratoderma Cardiomyopathy
Rare Symptoms - Less than 30% cases
Arthritis Small for gestational age Constipation Microcephaly Agenesis of permanent teeth Convex nasal ridge Long face Chest pain Tachycardia Blue sclerae Pneumonia Wormian bones Dyspnea Beaded ribs Ichthyosis Muscle weakness Hyperkeratosis Woolly hair Myocardial fibrosis Abnormal EKG Ventricular tachycardia Dilated cardiomyopathy Fragile nails Intellectual disability Asthenia Tricuspid valve prolapse Endocarditis Supraventricular tachycardia Thromboembolism Striae distensae Abnormal heart valve morphology Mastoiditis Long philtrum Bacterial endocarditis Hypersegmentation of neutrophil nuclei Reversed usual vertebral column curves Tonsillitis Cataract Septic arthritis Respiratory insufficiency Platyspondyly Premature birth Coarctation of aorta Thin skin Quadricuspid aortic valve Aortic regurgitation Disproportionate tall stature Pulmonic stenosis Pectus excavatum Posteriorly rotated ears Atrial septal defect Upslanted palpebral fissure Thin upper lip vermilion Joint laxity Hypertrophic cardiomyopathy High palate Intellectual disability, moderate Short philtrum Broad forehead Micrognathia Dental crowding Growth delay Bowing of the long bones Myelokathexis High, narrow palate Small hand Bone marrow hypercellularity Limb undergrowth Abnormality of the cardiovascular system Mitral valve prolapse Atrial fibrillation Mitral regurgitation Ventricular septal defect Broad long bones Large fontanelles Nephrotic syndrome Hypogonadism Macrotia Proteinuria Abnormality of the eye Stroke Prominent nasal bridge Severe global developmental delay Dolichocephaly Abnormality of eye movement Polymicrogyria Polyneuropathy Depressed nasal ridge Areflexia Pachygyria Progressive microcephaly Short chin Intellectual disability, progressive Poor head control Abnormality of vision Palmoplantar hyperkeratosis Cortical dysplasia Abnormality of peripheral nerve conduction Abnormal corpus callosum morphology Perisylvian polymicrogyria Diffuse palmoplantar keratoderma Agenesis of corpus callosum Intellectual disability, severe Disproportionate short-limb short stature Absent ossification of calvaria Abnormality of pelvic girdle bone morphology Increased susceptibility to fractures Metaphyseal widening Tibial bowing Nonimmune hydrops fetalis Pulmonary insufficiency Lens luxation Multiple prenatal fractures Abnormality of bone marrow cell morphology Abnormality of calvarial morphology Crumpled long bones Seizures Hypoplasia of the corpus callosum Global developmental delay Ataxia Hypertelorism Failure to thrive Sensorineural hearing impairment Abnormal facial shape Muscular hypotonia Depressed nasal bridge Peripheral neuropathy Wide nasal bridge Optic atrophy Downslanted palpebral fissures Folliculitis Bronchiectasis Abnormality of female external genitalia Gingival recession Absent eyebrow Loss of consciousness Bundle branch block Right bundle branch block Aplasia/Hypoplasia of the eyebrow Hypokinesia Parakeratosis Leukonychia Right ventricular cardiomyopathy Selective tooth agenesis Reduced systolic function Agenesis of molar Palpitations Hepatomegaly Osteopenia Skeletal dysplasia Conductive hearing impairment Micromelia Joint hypermobility Bruising susceptibility Spontaneous abortion Prolonged bleeding time Thin ribs Soft skin Oligodontia Cardiomegaly Dentinogenesis imperfecta Bone pain Truncus arteriosus Edema Skin vesicle Clubbing of fingers Abnormal atrioventricular conduction Congenital bullous ichthyosiform erythroderma Impaired myocardial contractility Cardiomyocyte hypertrophy Patchy palmoplantar keratoderma Mildly reduced ejection fraction Fatigue Hypophosphatemia Syncope Osteomalacia Spinal canal stenosis Abnormality of the respiratory system Hyperphosphaturia Abnormal myocardium morphology Dilatation Arrhythmia Erythema Pruritus Nail dystrophy Sudden cardiac death Vertebral compression fractures Fractures of the long bones Abnormality of female internal genitalia Sinusitis Neoplasm Fever Immunodeficiency Respiratory failure Carcinoma Respiratory tract infection Neutropenia Lymphoma Decreased antibody level in blood Otitis media Recurrent urinary tract infections Meningitis Narrow foramen obturatorium Recurrent bacterial infections Recurrent upper respiratory tract infections Leukocytosis Combined immunodeficiency Osteomyelitis Cellulitis IgG deficiency Periodontitis B-cell lymphoma Verrucae Atelectasis Abnormal bowel sounds Hypertensive crisis Flexion contracture Abnormality of the skin Hypertension Dysphagia Vomiting Diarrhea Renal insufficiency Weight loss Gastroesophageal reflux Arthralgia Autoimmunity Malabsorption Nausea and vomiting Pulmonary arterial hypertension Decreased urine output Telangiectasia Skin ulcer Osteolysis Pulmonary fibrosis Telangiectasia of the skin Scleroderma Xerostomia Pulmonary infiltrates Osteolytic defects of the phalanges of the hand Oliguria Dyspareunia Optic disc hypoplasia
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