Congestive heart failure, and Joint laxity

Diseases related with Congestive heart failure and Joint laxity

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


Top matches:

High 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

High match POLYHYDRAMNIOS-MEGALENCEPHALY-SYMPTOMATIC EPILEPSY SYNDROME


POLYHYDRAMNIOS-MEGALENCEPHALY-SYMPTOMATIC EPILEPSY SYNDROME Is also known as pmse syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hypertelorism


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about POLYHYDRAMNIOS-MEGALENCEPHALY-SYMPTOMATIC EPILEPSY SYNDROME

High match AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 1


Autosomal recessive cutis laxa, type 1 (ARCL1) is a generalized connective tissue disorder characterized by the association of wrinkled, redundant and sagging inelastic skin with severe systemic manifestations (lung atelectesias and emphysema, vascular anomalies, and gastrointestinal and genitourinary tract diverticuli).

AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 1 Is also known as arcl1|autosomal recessive cutis laxa with severe systemic involvement|cutis laxa, autosomal recessive|autosomal recessive cutis laxa, pulmonary emphysema type

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Sensorineural hearing impairment


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 1

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Other less relevant matches:

High match SINGLETON-MERTEN DYSPLASIA


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

High match ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS


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

High match CRANIOECTODERMAL DYSPLASIA


Cranioectodermal dysplasia (CED) is a rare developmental disorder characterized by congenital skeletal and ectodermal defects associated with dysmorphic features, nephronophthisis, hepatic fibrosis and ocular anomalies (mainly retinitis pigmentosa).

CRANIOECTODERMAL DYSPLASIA Is also known as levin syndrome i|sensenbrenner syndrome|ced

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Growth delay
  • Nystagmus


SOURCES: OMIM ORPHANET MENDELIAN

More info about CRANIOECTODERMAL DYSPLASIA

High match EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE


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

High match MARFAN SYNDROME; MFS


A heritable disorder of fibrous connective tissue, Marfan syndrome shows striking pleiotropism and clinical variability. The cardinal features occur in 3 systems--skeletal, ocular, and cardiovascular (McKusick, 1972; Pyeritz and McKusick, 1979; Pyeritz, 1993). It shares overlapping features with congenital contractural arachnodactyly (OMIM ), which is caused by mutation in the FBN2 gene (OMIM ).Gray and Davies (1996) gave a general review. They published Kaplan-Meier survival curves for a cohort of British Marfan syndrome patients demonstrating greater survivorship in females than in males; a similar result had been reported by Murdoch et al. (1972) and by Silverman et al. (1995). Gray and Davies (1996) also proposed a grading scale for clinical comparison of the Marfan syndrome patients. The authors provided criteria for each grade and suggested uniform use of these scales may facilitate clinicomolecular correlations.

MARFAN SYNDROME; MFS Is also known as marfan syndrome, type i|mfs1

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Scoliosis
  • Micrognathia
  • Strabismus


SOURCES: OMIM MENDELIAN

More info about MARFAN SYNDROME; MFS

High match CATARACT-INTELLECTUAL DISABILITY-HYPOGONADISM SYNDROME


This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.

CATARACT-INTELLECTUAL DISABILITY-HYPOGONADISM SYNDROME Is also known as martsolf syndrome|cataract-mental retardation-hypogonadism

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about CATARACT-INTELLECTUAL DISABILITY-HYPOGONADISM SYNDROME

High match LARSEN-LIKE SYNDROME, B3GAT3 TYPE


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

Top 5 symptoms//phenotypes associated to Congestive heart failure and Joint laxity

Symptoms // Phenotype % cases
Generalized hypotonia Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Pectus excavatum Common - Between 50% and 80% cases
Short stature Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Osteoporosis Scoliosis Growth delay Hernia High palate Micrognathia Mitral valve prolapse Microcephaly Glaucoma Talipes equinovarus Myopia Wide nasal bridge Muscle weakness Arrhythmia Respiratory distress Low-set ears Muscular hypotonia Arachnodactyly Pes planus Abnormality of the skeletal system Pulmonic stenosis Pectus carinatum Flexion contracture Abnormal facial shape Decreased body weight Hip dislocation Cryptorchidism Hyperlordosis Dilatation Motor delay Depressed nasal bridge Clinodactyly Short metacarpal Inguinal hernia Recurrent respiratory infections Talipes Polyneuropathy Esotropia Joint hyperflexibility Cardiomegaly Aortic root aneurysm Malar flattening Cutis laxa Redundant skin Aortic aneurysm Dolichocephaly Epicanthus Bicuspid aortic valve Abnormality of the dentition Downslanted palpebral fissures Osteopenia Hypoplasia of the maxilla Overgrowth Kyphoscoliosis Seizures Broad forehead Disproportionate tall stature Long face Hypertelorism Aortic regurgitation Pain Dental crowding High, narrow palate Mitral regurgitation Thin upper lip vermilion

Rare Symptoms - Less than 30% cases


Generalized muscle weakness Pes cavus Genu valgum Dural ectasia Abnormal heart valve morphology Epiphora Everted lower lip vermilion Visual loss Intellectual disability, moderate Striae distensae Single transverse palmar crease Aortic dissection Endocarditis Restrictive ventilatory defect Low posterior hairline Hypotelorism Rhizomelia Ascending tubular aorta aneurysm Short toe Bladder diverticulum Slender finger Metatarsus adductus Narrow chest Short philtrum Cerebral cortical atrophy Chest pain Cardiac arrest Short phalanx of finger Hypoplasia of dental enamel Elbow flexion contracture Amblyopia Short palm Abnormal lung morphology Scaphocephaly Peripheral axonal neuropathy Clinodactyly of the 5th finger Delayed skeletal maturation Small hand Abnormal cardiac septum morphology Fever Brachycephaly Brachydactyly Limb undergrowth Cleft palate Abnormality of the cardiovascular system Hypertropia Peripheral neuropathy Cataract Frontal bossing Anteverted nares Abnormality of cardiovascular system morphology Midface retrusion Postnatal growth retardation Prematurely aged appearance Heart murmur Microdontia Hyperextensible skin Decreased muscle mass Ventriculomegaly Hypertension Anemia Ptosis High forehead Abnormality of the abdominal wall Hearing impairment Microcornea Retinal detachment Joint hypermobility Incisional hernia Broad distal phalanges of all fingers Posteriorly rotated ears Strabismus Long philtrum Atrial septal defect Cardiomyopathy Shock Increased body weight Narrow face Respiratory insufficiency Edema Myopathy Kyphosis Inability to walk Severe global developmental delay Prominent forehead Abnormal toenail morphology Tachycardia Congenital diaphragmatic hernia Epiphyseal dysplasia Tricuspid valve prolapse Recurrent fractures Full cheeks Tall stature Joint dislocation Thoracic hypoplasia Prominent antitragus Emphysema Oligohydramnios Blue sclerae Enlarged metaphyses Retinopathy Apnea Stroke Keratoconus Dental malocclusion Camptodactyly Spina bifida occulta Torticollis Corneal dystrophy Spontaneous abortion Abnormality of the hip bone Exotropia Deeply set eye Neonatal hypotonia Narrow palate Sleep apnea Back pain Ectopia lentis Congenital contracture Hammertoe Atrophic scars Rocker bottom foot Large for gestational age Open bite Soft skin Lens luxation Atypical scarring of skin Intracranial hemorrhage Thoracic kyphoscoliosis Subcutaneous hemorrhage Keloids Decreased fetal movement Gastrointestinal hemorrhage Thin skin Insulin resistance Sepsis Arterial dissection Palmoplantar cutis laxa Premature rupture of membranes Joint contracture of the hand Wrist drop Moderate myopia Abnormal bleeding Hyperbilirubinemia Arterial rupture Generalized joint laxity Molluscoid pseudotumors Spatulate thumbs Spontaneous rupture of the globe Progressive congenital scoliosis Spina bifida Bruising susceptibility Recurrent pneumonia Gastroesophageal reflux Unsteady gait Retrognathia High myopia Metacarpophalangeal joint hyperextensibility Decreased pulmonary function Congenital glaucoma Reduced subcutaneous adipose tissue Abnormality of the antihelix Generalized osteoporosis Prominent nipples Broad fingertip Small face Deep palmar crease Osteopathia striata Abnormality of the distal phalanx of finger Endocardial fibroelastosis Talipes valgus Furrowed tongue Misalignment of teeth Lumbar scoliosis Slender ulna Knee dislocation Tracheomalacia Thoracic scoliosis Ulnar deviation of finger Spastic diplegia Bilateral cryptorchidism Abnormality of the hand Abnormal dermatoglyphics Intellectual disability, progressive Knee flexion contracture Hypogonadotrophic hypogonadism 11 pairs of ribs Overlapping fingers Clonus Thick eyebrow Bilateral talipes equinovarus Spondyloepiphyseal dysplasia Radioulnar synostosis Patent foramen ovale Sandal gap Accelerated skeletal maturation Microretrognathia Meningitis Lymphedema Left ventricular hypertrophy Webbed neck Flat face Abnormally large globe Abnormality of the foot Hypermetropia Microtia Proptosis Narrow mouth Abnormal heart morphology Hydrocephalus Short neck Narrow nasal bridge Ventricular septal defect Upper limb undergrowth Hypergonadotropic hypogonadism Postnatal microcephaly Abnormality of the sternum Homocystinuria Spontaneous pneumothorax Cystic medial necrosis Microspherophakia Flat cornea Accessory carpal bones Hypopnea Protrusio acetabuli Thoracic aortic aneurysm Overbite Hypoplasia of the musculature Pneumothorax Low back pain Anisometropia Pulmonary edema Spondylolisthesis Genu recurvatum Thoracic kyphosis Obstructive sleep apnea Meningocele Arachnoid cyst Hypoplasia of the iris Subarachnoid hemorrhage Megalocornea Dilatation of the cerebral artery Overjet Increased axial length of the globe Lumbar hyperlordosis Shoulder dislocation Talipes equinovalgus Growth hormone deficiency Multiple joint dislocation Broad nasal tip Polymicrogyria Congenital cataract Abnormal pyramidal sign Feeding difficulties in infancy Low-set, posteriorly rotated ears Muscular hypotonia of the trunk Micropenis Hypogonadism Pulmonary artery dilatation Severe short stature Hyporeflexia Encephalopathy Cerebral atrophy Microphthalmia Intellectual disability, severe Optic atrophy Spasticity Inferior oblique muscle overaction Medial rotation of the medial malleolus Mitral annular calcification Premature osteoarthritis Finger syndactyly Abnormality of metabolism/homeostasis Supravalvular aortic stenosis Cutaneous photosensitivity Waddling gait Smooth philtrum Carious teeth Recurrent infections Skeletal muscle atrophy Renal diverticulum Bowel diverticulosis Arterial fibromuscular dysplasia Congenital hemolytic anemia Coxa valga Vascular tortuosity Dermal translucency Arterial stenosis Ileus Cor pulmonale Atelectasis Premature skin wrinkling Pulmonary artery stenosis Shawl scrotum Progressive sensorineural hearing impairment Aortic valve stenosis Osteolysis Wormian bones Mitral valve calcification Expanded phalanges with widened medullary cavities Expanded metacarpals with widened medullary cavities Hypoplastic distal radial epiphyses Expanded metatarsals with widened medullary cavities Aortic arch calcification Hypoplasia of the tooth germ Tendon rupture Dentinogenesis imperfecta limited to primary teeth Unerupted tooth Premature loss of permanent teeth Hip subluxation Scaling skin Aortic valve calcification Shallow acetabular fossae Muscle fiber atrophy Subvalvular aortic stenosis Onycholysis Osteolytic defects of the phalanges of the hand High anterior hairline Periodontitis Heart block Psoriasiform dermatitis Delayed cranial suture closure Abnormality of the face Syndactyly Reversed usual vertebral column curves Premature birth Highly arched eyebrow Leukemia Wide mouth Difficulty walking Polyhydramnios Absent speech Macrocephaly Feeding difficulties Failure to thrive Quadricuspid aortic valve Status epilepticus Bacterial endocarditis Mastoiditis Asthenia Supraventricular tachycardia Thromboembolism Atrial fibrillation Convex nasal ridge Hypertrophic cardiomyopathy Dyspnea Upslanted palpebral fissure Focal-onset seizure Thick lower lip vermilion Recurrent urinary tract infections Minimal subcutaneous fat Bilateral sensorineural hearing impairment Vesicoureteral reflux Hemolytic anemia Umbilical hernia Arthralgia Hypothyroidism Hypospadias Sensorineural hearing impairment Hypovolemic shock Hyperplasia of midface Multifocal epileptiform discharges Open mouth Astrocytosis Large forehead Thick upper lip vermilion Facial hypotonia Megalencephaly Diabetes insipidus Focal impaired awareness seizure Tented upper lip vermilion Drooling Nephrocalcinosis Ataxia Depressivity Blindness Abnormality of the metaphysis Radial deviation of finger Chronic kidney disease Widely spaced teeth Abnormality of the fingernails Abnormality of dental enamel Hypocalcemia Short ribs Hepatic fibrosis Omphalocele Fine hair Abnormality of dental morphology Ectodermal dysplasia Hypodontia Nephropathy Retinal dystrophy Short distal phalanx of finger Hepatic failure Stage 5 chronic kidney disease Sparse hair Craniosynostosis Protruding ear Cupped ear Short thorax Photophobia Abnormal diaphysis morphology Gait disturbance Visual impairment Malformation of the hepatic ductal plate Renal magnesium wasting Broad toe Tubulointerstitial abnormality Short nail Interstitial pneumonitis Thin nail Flattened epiphysis Hepatic cysts Prominent occiput Sagittal craniosynostosis Slow-growing hair Elevated serum creatinine Anodontia Tubulointerstitial nephritis Taurodontia Protuberant abdomen Fibular hypoplasia Short humerus High hypermetropia Telecanthus Respiratory failure Gait ataxia Renal hypoplasia Short metatarsal Growth abnormality Ventricular arrhythmia Oligodontia Ventricular tachycardia Scapular winging Short chin Palpitations Tetraparesis Short palpebral fissure Coarctation of aorta Myotonia Specific learning disability Syncope Triangular face Delayed eruption of teeth Short foot Bulbous nose Facial asymmetry Toe syndactyly Blepharophimosis Paralysis Hypokalemia Preauricular pit Renal insufficiency Toe clinodactyly Hepatomegaly Nystagmus 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 Delayed eruption of permanent teeth 2-3 toe syndactyly Persistence of primary teeth Periodic paralysis Hyperthyroidism Slender long bone Long nose Agenesis of permanent teeth Prolonged QT interval Hyperkalemia High pitched voice Loss of consciousness Bilateral elbow dislocations



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