Congestive heart failure, and Joint hypermobility

Diseases related with Congestive heart failure and Joint hypermobility

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


Top matches:

Low match MILD SPONDYLOEPIPHYSEAL DYSPLASIA DUE TO COL2A1 MUTATION WITH EARLY-ONSET OSTEOARTHRITIS


Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis is a type 2 collagen-related bone disorder characterized by precocious, generalized osteoarthritis (with onset as early as childhood) and mild, dysplastic spinal changes (flattening of vertebrae, irregular endplates and wedge-shaped deformities) resulting in a mildly short trunk.

MILD SPONDYLOEPIPHYSEAL DYSPLASIA DUE TO COL2A1 MUTATION WITH EARLY-ONSET OSTEOARTHRITIS Is also known as namaqualand hip dysplasia|nhd

Related symptoms:

  • Intellectual disability
  • Short stature
  • Pain
  • Congestive heart failure
  • Pneumonia


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about MILD SPONDYLOEPIPHYSEAL DYSPLASIA DUE TO COL2A1 MUTATION WITH EARLY-ONSET OSTEOARTHRITIS

Low match CONGENITAL MUSCULAR DYSTROPHY DUE TO LMNA MUTATION


Congenital muscular dystrophy due to LMNA mutation is a rare congenital muscular dystrophy characterized by prominent axial hypotonia, dropped head syndrome, predominantly proximal muscle weakness in upper limbs/distal in lower limbs (with absent, poor or lost motor development), joint contractures (initially distal, later proximal), spine rigidity, and early respiratory insufficiency, in the presence of moderately elevated serum creatine kinase. Cardiac arrhythmias and sudden death have been also reported.

CONGENITAL MUSCULAR DYSTROPHY DUE TO LMNA MUTATION Is also known as mdcl|lmna-related congenital muscular dystrophy|l-cmd

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Growth delay
  • Failure to thrive
  • Muscle weakness


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about CONGENITAL MUSCULAR DYSTROPHY DUE TO LMNA MUTATION

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

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Other less relevant matches:

Low match AARSKOG-SCOTT SYNDROME


Aarskog-Scott syndrome (AAS) is a rare developmental disorder characterized by facial, limbs and genital features, and a disproportionate acromelic short stature.

AARSKOG-SCOTT SYNDROME Is also known as aarskog syndrome|faciodigitogenital syndrome|faciogenital dysplasia

Related symptoms:

  • Short stature
  • Hypertelorism
  • Strabismus
  • Cleft palate
  • Cryptorchidism


SOURCES: ORPHANET MENDELIAN

More info about AARSKOG-SCOTT SYNDROME

Low 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

Low match PSEUDOXANTHOMA ELASTICUM


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

Low match ARTERIAL TORTUOSITY SYNDROME


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

Low match TEMTAMY SYNDROME


Temtamy syndrome is a very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.

TEMTAMY SYNDROME Is also known as temtamy-shalash syndrome|craniofacial dysmorphism-coloboma-corpus callosum agenesis syndrome|mental retardation with or without craniofacial dysmorphism, ocular coloboma, or abnormal corpus callosum

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about TEMTAMY SYNDROME

Low 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

Low 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

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

Symptoms // Phenotype % cases
Joint hyperflexibility Common - Between 50% and 80% cases
Myopia Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Dilatation Uncommon - Between 30% and 50% cases
Aortic aneurysm Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Redundant skin Hyperextensible skin Clinodactyly of the 5th finger Inguinal hernia Pectus excavatum Short stature Generalized hypotonia Intellectual disability Hypertelorism Talipes equinovarus Hypertension Respiratory distress Single transverse palmar crease Hernia Cryptorchidism Myocardial infarction Osteoporosis Talipes Joint laxity Hip dislocation Arachnodactyly Bruising susceptibility Dolichocephaly Blue sclerae Cutis laxa Pes planus Muscular hypotonia Visual impairment Ptosis Scoliosis Epicanthus Arterial stenosis Growth delay Abnormality of cardiovascular system morphology Hearing impairment

Rare Symptoms - Less than 30% cases


Esotropia Microcornea Long philtrum Finger syndactyly Umbilical hernia Everted lower lip vermilion Abnormality of the dentition Downslanted palpebral fissures Wide nasal bridge Long face Dental crowding Telangiectasia of the skin Shawl scrotum Anteverted nares Short toe Keratoconus High palate Edema Blindness Renal insufficiency Retinopathy Bladder diverticulum Pulmonary artery stenosis Prematurely aged appearance Lens luxation Gastrointestinal hemorrhage Thin skin Aortic regurgitation Mitral valve prolapse Bilateral sensorineural hearing impairment Oligohydramnios Overgrowth Full cheeks Hypothyroidism Aortic root aneurysm Abnormal facial shape Sensorineural hearing impairment Microcephaly Intracranial hemorrhage Hip dysplasia Brachydactyly Arrhythmia Aortic dissection Osteopenia Gait disturbance Respiratory insufficiency Myopathy Hepatomegaly Hyperlordosis Small for gestational age Narrow chest Abnormality of the skeletal system Frontal bossing Nystagmus Strabismus Depressed nasal bridge Low-set ears Flexion contracture Motor delay Muscle weakness Macrocephaly Telecanthus Respiratory failure Soft skin Craniosynostosis Decreased fetal movement Wormian bones Recurrent fractures Seizures Micrognathia Bowing of the legs Short 2nd toe Avascular necrosis of the capital femoral epiphysis Scleral staphyloma Femoral hernia Congenital nystagmus Median cleft lip and palate Long palm Esophagitis Neurogenic bladder Lop ear Clinodactyly Hypoplasia of teeth Abnormality of the zygomatic bone Protruding ear Posterior staphyloma Postnatal growth retardation Photophobia Colpocephaly High forehead Short upper lip Keratoglobus Abnormal carotid artery morphology Profound global developmental delay Intellectual disability, moderate Unilateral renal agenesis Agenesis of corpus callosum Absent speech Highly arched eyebrow Iris coloboma Facial asymmetry Patent ductus arteriosus Abnormal heart morphology Abnormal myocardium morphology Gait ataxia Microphthalmia Autism Corneal opacity Coloboma Sparse hair Cardiorespiratory arrest Coarse facial features Hydronephrosis Mental deterioration Prominent nose Renal agenesis Cataract Ventriculomegaly Chorioretinal coloboma Spasticity Optic atrophy Relative macrocephaly Ventricular septal defect Genu varum Aplasia/Hypoplasia of the corpus callosum Abnormal palate morphology Short chin Intellectual disability, mild Hypoplasia of the corpus callosum Atrial septal defect Thick lower lip vermilion Hiatus hernia Intellectual disability, profound Intellectual disability, severe Progressive visual loss Convex nasal ridge Myocarditis Chronic kidney disease Stage 5 chronic kidney disease Polyneuropathy Recurrent pneumonia Spina bifida Joint contracture of the hand Insulin resistance Tall stature High myopia Sepsis Abnormal bleeding Generalized muscle weakness Retinal detachment Hyperbilirubinemia Unsteady gait Pectus carinatum Neonatal hypotonia Kyphoscoliosis Glaucoma Prominent forehead Abnormality of metabolism/homeostasis Kyphosis Malformation of the hepatic ductal plate Broad distal phalanges of all fingers Increased body weight Joint dislocation Renal magnesium wasting Keloids Spontaneous rupture of the globe Molluscoid pseudotumors Arterial rupture Decreased pulmonary function Moderate myopia Wrist drop Premature rupture of membranes Palmoplantar cutis laxa Arterial dissection Dural ectasia Thoracic kyphoscoliosis Spina bifida occulta Subcutaneous hemorrhage Generalized joint laxity Atypical scarring of skin Slender finger Abnormality of the hip bone Atrophic scars Disproportionate tall stature Heart murmur Corneal dystrophy Torticollis Incisional hernia Broad toe Hepatic failure Omphalocele Bicuspid aortic valve Widely spaced teeth Abnormality of the fingernails Abnormality of dental enamel Hypocalcemia Short ribs Hepatic fibrosis Rhizomelia Hypoplasia of dental enamel Abnormality of the metaphysis Radial deviation of finger Fine hair Hypotelorism Limb undergrowth Microdontia Ectodermal dysplasia Hypodontia Nephropathy High, narrow palate Retinal dystrophy Short distal phalanx of finger Pyloric stenosis Cupped ear Tubulointerstitial abnormality Elevated serum creatinine Short nail Interstitial pneumonitis Thin nail Flattened epiphysis Abnormality of the abdominal wall Abnormal diaphysis morphology Hepatic cysts Sagittal craniosynostosis Slow-growing hair Abnormal toenail morphology Anodontia Abnormality of dental morphology Tubulointerstitial nephritis Taurodontia Scaphocephaly Protuberant abdomen Fibular hypoplasia Short humerus High hypermetropia Prominent occiput Short thorax Thoracic hypoplasia Rocker bottom foot Excessive wrinkled skin Coxa vara Short palm External ear malformation Megalocornea Broad palm Round face Hypoplasia of the maxilla Delayed eruption of teeth Short foot Small hand Oral cleft Genu recurvatum Cleft upper lip Broad forehead Attention deficit hyperactivity disorder Camptodactyly of finger Low-set, posteriorly rotated ears Behavioral abnormality Short neck Cognitive impairment Cleft palate Broad foot High anterior hairline Fractures of the long bones Abnormality of the face Ileus Cor pulmonale Atelectasis Premature skin wrinkling Progressive sensorineural hearing impairment Delayed cranial suture closure Emphysema Epiphyseal dysplasia Shock Recurrent urinary tract infections Abnormality of the cervical spine Congenital diaphragmatic hernia Vesicoureteral reflux Hemolytic anemia Pulmonic stenosis Arthralgia Recurrent respiratory infections Hypospadias Anemia Abnormal vertebral segmentation and fusion Beaded ribs Dentinogenesis imperfecta Dermal translucency Hip osteoarthritis Elevated serum creatine phosphokinase Skeletal muscle atrophy Feeding difficulties Failure to thrive Schmorl's node Heberden's node Knee osteoarthritis Morphological abnormality of the central nervous system Hip pain Beaking of vertebral bodies Limb muscle weakness Exostoses Irregular vertebral endplates Arthropathy Pathologic fracture Osteoarthritis Platyspondyly Joint stiffness Pneumonia Pain Muscular dystrophy Abnormality of the foot Vertebral compression fractures Axial muscle weakness Thin ribs Agenesis of permanent teeth Prolonged bleeding time Reduced number of teeth Spontaneous abortion Micromelia Conductive hearing impairment Skeletal dysplasia Constipation Limb-girdle muscle weakness Limitation of joint mobility Neck muscle weakness Spinal rigidity Generalized amyotrophy Congenital muscular dystrophy Cachexia Poor head control Respiratory insufficiency due to muscle weakness Severe muscular hypotonia EMG abnormality Ascending tubular aorta aneurysm Vascular tortuosity Coxa valga Angioid streaks of the fundus Arterial calcification Subcutaneous calcification Vascular calcification Accelerated atherosclerosis Civatte bodies Abnormality of connective tissue Renovascular hypertension Metamorphopsia Intermittent claudication Localized skin lesion Retinal hemorrhage Abnormal endocardium morphology Choroidal neovascularization Ectopic calcification Pulmonary insufficiency Arteriosclerosis Pulmonary edema Abnormal mitral valve morphology Abnormal thrombocyte morphology Hyperkeratotic papule Generalized arterial calcification Restrictive cardiomyopathy Malar flattening Cardiac arrest Short palpebral fissure Specific learning disability Dilated cardiomyopathy Blepharophimosis Hypertrophic cardiomyopathy Gastroesophageal reflux Macrotia Dyspnea Short nose Medial calcification of large arteries Fatigue Medial calcification of small arteries Abnormal atrioventricular valve morphology Medial calcification of medium-sized arteries Premature occlusive vascular stenosis Erythematous papule Subretinal fluid Peau d'orange Peripapillary chorioretinal atrophy Redundant neck skin Lack of skin elasticity Congenital hemolytic anemia Stroke Mitral regurgitation Abnormality of the cardiovascular system Cerebral calcification Abnormality of the skin Sudden cardiac death Postural instability Abnormality of skin pigmentation Pruritus Papule Skin rash Nephrocalcinosis Scarring Reduced visual acuity Visual loss Cardiomyopathy Intrauterine growth retardation Renal diverticulum Bowel diverticulosis Arterial fibromuscular dysplasia Supravalvular aortic stenosis Subcutaneous nodule Macular degeneration Angina pectoris Multiple lipomas Peripheral arterial stenosis Abnormality of the cerebral vasculature Mitral stenosis Drusen Thickened nuchal skin fold Abnormality of the mouth Severe intrauterine growth retardation Severe vision loss Striae distensae Chorioretinal atrophy Atherosclerosis Abnormal retinal morphology Hypermelanotic macule Coronary artery atherosclerosis Cutis marmorata Hemiplegia/hemiparesis Tricuspid regurgitation Acne Abnormality of the thorax Ischemic stroke Progressive congenital scoliosis



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