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


SOURCES: OMIM MENDELIAN

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 SYNDROME

Low 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


SOURCES: ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT HYPOPHOSPHATEMIC RICKETS

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Other less relevant matches:

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


SOURCES: OMIM MENDELIAN

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


SOURCES: ORPHANET MENDELIAN

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 SYNDROME

Low 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. Genetic Heterogeneity of Familial Mitral Valve ProlapseSeveral loci for mitral valve prolapse (MVP) have been been mapped: MVP1 to chromosome 16p; MVP2 (OMIM ) to chromosome 11p; and MVP3 (OMIM ) to chromosome 13q.

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 PROLAPSE

Low 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 2

Low 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 SYNDROME

Top 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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