Congestive heart failure, and Joint stiffness

Diseases related with Congestive heart failure and Joint stiffness

In the following list you will find some of the most common rare diseases related to Congestive heart failure and Joint stiffness 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 X-LINKED MYOPATHY WITH POSTURAL MUSCLE ATROPHY


X-linked myopathy with postural muscle atrophy is a rare progressive muscular dystrophy characterized by an adult-onset scapulo-axio-peroneal myopathy. Clinical presentation includes shoulder girdle atrophy, scapular winging, axial muscular atrophy of postural muscles combined with a generalized hypertrophy. Typically, neck rigidity, rigid spine, Achilles tendon shortening, and respiratory insufficiency later in disease course are present.

X-LINKED MYOPATHY WITH POSTURAL MUSCLE ATROPHY Is also known as xmpma

Related symptoms:

  • Scoliosis
  • Muscle weakness
  • Pain
  • Ptosis
  • Flexion contracture


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED MYOPATHY WITH POSTURAL MUSCLE ATROPHY

Low match NAKAJO-NISHIMURA SYNDROME


Nakajo-Nishimura syndrome (NNS) is a rare autoinflammatory disorder belonging to the proteasome disability syndrome (see this term) group, and characterized by pernio-like lesions appearing in infancy followed by recurrent fever, nodular skin eruption, partial lipodystrophy (mainly in upper extremities and face) and joint contractures.

NAKAJO-NISHIMURA SYNDROME Is also known as nns|secondary hypertrophic osteoperiostosis with pernio|amyotrophy-fat tissue anomaly syndrome

Related symptoms:

  • Muscle weakness
  • Hepatomegaly
  • Fever
  • Skeletal muscle atrophy
  • Respiratory insufficiency


SOURCES: ORPHANET MENDELIAN

More info about NAKAJO-NISHIMURA SYNDROME

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Other less relevant matches:

Low match MYOPATHY, MYOFIBRILLAR, 1; MFM1


Myofibrillar myopathy (MFM) is a noncommittal term that refers to a group of morphologically homogeneous, but genetically heterogeneous chronic neuromuscular disorders. The morphologic changes in skeletal muscle in MFM result from disintegration of the sarcomeric Z disc and the myofibrils, followed by abnormal ectopic accumulation of multiple proteins involved in the structure of the Z disc, including desmin, alpha-B-crystallin (CRYAB ), dystrophin (OMIM ), and myotilin (TTID ). Genetic Heterogeneity of Myofibrillar MyopathyOther forms of MFM include MFM2 (OMIM ), caused by mutation in the CRYAB gene (OMIM ); MFM3 (OMIM ) (OMIM ), caused by mutation in the MYOT gene (OMIM ); MFM4 (OMIM ), caused by mutation in the ZASP gene (LDB3 ); MFM5 (OMIM ), caused by mutation in the FLNC gene (OMIM ); MFM6 (OMIM ), caused by mutation in the BAG3 gene (OMIM ); MFM7 (OMIM ), caused by mutation in the KY gene (OMIM ); and MFM8 (OMIM ), caused by mutation in the PYROXD1 gene (OMIM ).'Desmin-related myopathy' is another term referring to MFM in which there are intrasarcoplasmic aggregates of desmin, usually in addition to other sarcomeric proteins. Rigid spine syndrome (OMIM ), caused by mutation in the SEPN1 gene (OMIM ), is another desmin-related myopathy. Goebel (1995) provided a review of desmin-related myopathy.

MYOPATHY, MYOFIBRILLAR, 1; MFM1 Is also known as drm|cardiomyopathy, dilated, with conduction defect and muscular dystrophy|cardiomyopathy, dilated, 1f and limb-girdle muscular dystrophy type 1d, formerly|myopathy, myofibrillar, desmin-related|lgmd2r, formerly|desminopathy, primary|arvd7, formerly|cmd1f

Related symptoms:

  • Scoliosis
  • Muscle weakness
  • Pain
  • Cataract
  • Flexion contracture


SOURCES: ORPHANET OMIM MENDELIAN

More info about MYOPATHY, MYOFIBRILLAR, 1; MFM1

Low match AUTOSOMAL DOMINANT EMERY-DREIFUSS MUSCULAR DYSTROPHY


EDMD is characterized by myopathic changes in certain skeletal muscles and early contractures at the neck, elbows, and Achilles tendons, as well as cardiac conduction defects. 'Classic' Emery-Dreifuss muscular dystrophy (EDMD1 ) is an X-linked disorder caused by mutation in the emerin gene (EMD ) on Xq28 (Emery, 1989).For a discussion of genetic heterogeneity of EDMD, see {310300}.

AUTOSOMAL DOMINANT EMERY-DREIFUSS MUSCULAR DYSTROPHY Is also known as scapuloilioperoneal atrophy with cardiopathy|emd2|muscular dystrophy, limb-girdle, type 1b, formerly|emery-dreifuss muscular dystrophy, autosomal dominant|edmd2|cardiomyopathy, dilated, with quadriceps myopathy|muscular dystrophy, proximal, type 1b, forme

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness
  • Muscular hypotonia


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT EMERY-DREIFUSS MUSCULAR DYSTROPHY

Low match GELEOPHYSIC DYSPLASIA


Geleophysic dysplasia is a rare skeletal dysplasia characterized by short stature, prominent abnormalities in hands and feet, and a characteristic facial appearance (described as "happy'').

GELEOPHYSIC DYSPLASIA Is also known as geleophysic dwarfism

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Growth delay
  • Hypertelorism


SOURCES: ORPHANET OMIM MENDELIAN

More info about GELEOPHYSIC DYSPLASIA

Low match ARTHROGRYPOSIS, DISTAL, TYPE 5; DA5


Distal arthrogryposis type 5 is distinguished from other forms of DA by the presence of ocular abnormalities, typically ptosis, ophthalmoplegia, and/or strabismus, in addition to contractures of the skeletal muscles. Some cases have been reported to have pulmonary hypertension as a result of restrictive lung disease (summary by Bamshad et al., 2009).There are 2 syndromes with features overlapping those of DA5 that are also caused by heterozygous mutation in PIEZO2: distal arthrogryposis type 3 (DA3, or Gordon syndrome; {114300}) and Marden-Walker syndrome (MWKS ), which are distinguished by the presence of cleft palate and mental retardation, respectively. McMillin et al. (2014) suggested that the 3 disorders might represent variable expressivity of the same condition.For a general phenotypic description and a discussion of genetic heterogeneity of distal arthrogryposis, see DA1A (OMIM ). Genetic Heterogeneity of Distal Arthrogryposis 5A subtype of DA5 due to mutation in the ECEL1 gene (OMIM ) on chromosome 2q36 has been designated DA5D (OMIM ). See NOMENCLATURE.

ARTHROGRYPOSIS, DISTAL, TYPE 5; DA5 Is also known as daiib|arthrogryposis, distal, type iib|arthrogryposis with oculomotor limitation and electroretinal abnormalities|oculomelic amyoplasia

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Scoliosis
  • Micrognathia


SOURCES: OMIM MENDELIAN

More info about ARTHROGRYPOSIS, DISTAL, TYPE 5; DA5

Low match FIBRODYSPLASIA OSSIFICANS PROGRESSIVA


Fibrodysplasia ossificans progressiva (FOP) is a severely disabling heritable disorder of connective tissue characterized by congenital malformations of the great toes and progressive heterotopic ossification that forms qualitatively normal bone in characteristic extraskeletal sites.

FIBRODYSPLASIA OSSIFICANS PROGRESSIVA Is also known as stone man syndrome|fop|myositis ossificans progressiva

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Scoliosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about FIBRODYSPLASIA OSSIFICANS PROGRESSIVA

Low match LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4; CGL4


Congenital generalized lipodystrophy type 4 combines the phenotype of classic Berardinelli-Seip lipodystrophy (OMIM ) with muscular dystrophy and cardiac conduction anomalies (Hayashi et al., 2009).For a general description and a discussion of genetic heterogeneity of congenital generalized lipodystrophy, see CGL1 (OMIM ).

LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4; CGL4 Is also known as berardinelli-seip congenital lipodystrophy, type 4, with muscular dystrophy|lipodystrophy, berardinelli-seip congenital, type 4, with muscular dystrophy

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4; CGL4

Low match FRANK-TER HAAR SYNDROME


Frank-ter Haar syndrome (formerly considered as an autosomal recessive form of Melnick-Needles syndrome; see this term) is defined by megalocornea, multiple skeletal anomalies, characteristic facial dysmorphism (wide fontanels, prominent forehead, hypertelorism, prominent eyes, full cheeks and micrognathia) and developmental delay.

FRANK-TER HAAR SYNDROME Is also known as ter haar syndrome|borrone dermatocardioskeletal syndrome|melnick-needles syndrome, autosomal recessive, formerly

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Scoliosis
  • Growth delay


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about FRANK-TER HAAR SYNDROME

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

Symptoms // Phenotype % cases
Flexion contracture Common - Between 50% and 80% cases
Scoliosis Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Respiratory insufficiency Common - Between 50% and 80% cases
Arrhythmia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Muscle weakness Spinal rigidity Dilatation Short stature Myopathy Elevated serum creatine phosphokinase Respiratory failure Proximal muscle weakness Pectus excavatum Muscular dystrophy Ventricular hypertrophy Talipes equinovarus Pain Global developmental delay Scapular winging Hypertrophic cardiomyopathy Progressive proximal muscle weakness Back pain Rimmed vacuoles Hyperlordosis Lipodystrophy Hepatomegaly Kyphosis Wide nasal bridge Mildly elevated creatine phosphokinase High palate Abnormality of the skeletal system Rigidity Cardiomyopathy Ptosis Osteopenia Sudden cardiac death Myocardial infarction Protruding ear Atrial fibrillation Pneumonia Palpitations Hypertension Skeletal muscle atrophy Gait disturbance

Rare Symptoms - Less than 30% cases


Respiratory insufficiency due to muscle weakness Increased variability in muscle fiber diameter Vertigo Sensorineural hearing impairment Difficulty climbing stairs Tachycardia Micrognathia Generalized muscle weakness Elbow flexion contracture Syncope Clinodactyly Progressive muscle weakness Muscle stiffness Tricuspid regurgitation Ventricular tachycardia Limb-girdle muscular dystrophy Atrioventricular block EMG: myopathic abnormalities Hypertelorism Short long bone Hearing impairment Thickened skin Anteverted nares Delayed skeletal maturation Hepatosplenomegaly Wide mouth Camptodactyly of finger Smooth philtrum Short palm Full cheeks Toe walking Growth delay Seizures Ventricular arrhythmia Heart block Hirsutism Joint contracture of the hand Bradycardia Dilated cardiomyopathy Hypertriglyceridemia Neonatal hypotonia Difficulty walking Bilateral talipes equinovarus Feeding difficulties Osteoporosis Generalized hypotonia Lower limb muscle weakness Limb muscle weakness Distal muscle weakness Dysphagia Exostoses Beaking of vertebral bodies Cardiomegaly Glaucoma Arachnodactyly Arthrogryposis multiplex congenita Failure to thrive Short neck Right bundle branch block Low-set ears Skeletal muscle hypertrophy Limb-girdle muscle weakness Splenomegaly Stiff neck Intellectual disability, mild Fever Subcutaneous nodule Clinodactyly of the 5th finger Hip dysplasia Dyspnea Camptodactyly Deeply set eye Alopecia Constipation Lipoatrophy Myalgia Facial palsy Elevated hepatic transaminase Postnatal growth retardation Round ear Spastic paraplegia Anemia Keratoglobus Acanthosis nigricans Hepatic steatosis Growth hormone deficiency Amyoplasia Exercise intolerance Firm muscles Pointed chin Recurrent bacterial infections Accelerated skeletal maturation Sparse and thin eyebrow Limited wrist extension Absent phalangeal crease Insulin resistance Epidermal acanthosis Exophoria Congenital finger flexion contractures Internally rotated shoulders Long eyelashes Thin skin Neoplasm Decreased facial expression Limitation of joint mobility Conductive hearing impairment Basal ganglia calcification Synostosis of joints Sarcoma Metaphyseal widening Soft tissue sarcoma Hallux valgus Low-grade fever Hamartoma Alopecia of scalp Finger clinodactyly Ankylosis Broad neck Myositis Short hallux Short 1st metacarpal Broad femoral neck Overbite Widely spaced teeth Aspiration Hypothyroidism Vomiting Diabetes mellitus Respiratory tract infection Hypotrichosis Atherosclerosis Short thumb Abnormal vertebral morphology Recurrent infections Aplasia/Hypoplasia of the phalanges of the hallux Osteochondroma Abnormality of the first metatarsal bone Progressive cervical vertebral spine fusion Ectopic ossification in tendon tissue Ectopic ossification in ligament tissue Ectopic ossification in muscle tissue Small cervical vertebral bodies Ectopic ossification Fibrosarcoma Hyperlipidemia Motor delay Pancreatitis Dental malocclusion Osteolysis Short chin Wormian bones Gynecomastia Wide anterior fontanel Gingival overgrowth Short phalanx of finger Bowing of the long bones Interphalangeal joint contracture of finger Mitral valve prolapse Broad nasal tip Cholelithiasis Delayed eruption of teeth Single transverse palmar crease Thick vermilion border Thin vermilion border Genu valgum Corneal opacity Broad forehead Short philtrum Abnormality of the pinna Umbilical hernia Abnormality of the metacarpal bones Acne Skeletal dysplasia Buphthalmos Cortical irregularity Serpentine fibula Prominent coccyx Broad clavicles Multiple skeletal anomalies Hyperplasia of the maxilla Broad alveolar ridges Thoracolumbar kyphosis Vacuolated lymphocytes Anterior segment developmental abnormality Concave nasal ridge Flat occiput Abnormally large globe Genu recurvatum Double outlet right ventricle Premature loss of teeth Megalocornea Aseptic necrosis Congenital glaucoma Delayed cranial suture closure Flared metaphysis Metatarsus adductus Coarse facial features Kyphoscoliosis Delayed gross motor development IgA deficiency Loss of subcutaneous adipose tissue in limbs Dysmenorrhea Atlantoaxial dislocation Prolonged QTc interval Generalized lipodystrophy Ileus Exercise-induced myalgia Prominent superficial veins Supraventricular tachycardia Protuberant abdomen Secondary amenorrhea Abnormal levels of creatine kinase in blood Reduced subcutaneous adipose tissue Prolonged QT interval Cutis marmorata Ventricular fibrillation Failure to thrive in infancy Hyperinsulinemia Prominent supraorbital ridges Pyloric stenosis Polycystic ovaries Reduced bone mineral density Fasting hyperinsulinemia Polymorphic ventricular tachycardia High forehead Downslanted palpebral fissures Mandibular prognathia Proptosis Brachycephaly Prominent forehead Inguinal hernia Abnormal heart morphology Hernia Abnormality of cardiovascular system morphology Intellectual disability, severe Ventricular septal defect Brachydactyly Atlantoaxial instability Depressed nasal bridge Ulnar deviation of the wrist Adipose tissue loss Muscle mounding Abnormality of skeletal muscle fiber size Cervical spine instability Generalized muscle hypertrophy Prominent umbilicus Abnormality of upper lip Congenital generalized lipodystrophy Decreased palmar creases Wrist flexion contracture Duane anomaly Hyporeflexia of lower limbs Muscular hypotonia Restrictive heart failure Pica Late-onset proximal muscle weakness Third degree atrioventricular block Sick sinus syndrome Intestinal pseudo-obstruction Right ventricular cardiomyopathy Skeletal myopathy Obesity Myofibrillar myopathy Restrictive cardiomyopathy Atrial flutter Ventricular extrasystoles Neck muscle weakness Centrally nucleated skeletal muscle fibers Bulbar palsy Hypokinesia Midface retrusion Pes cavus Akinesia Sprengel anomaly Supraventricular arrhythmia Proximal muscle weakness in lower limbs Distal lower limb muscle weakness Achilles tendon contracture Shoulder girdle muscle weakness Distal lower limb amyotrophy Proximal amyotrophy Vocal cord paralysis Ankle contracture Ichthyosis Calf muscle hypertrophy Myotonia Congenital muscular dystrophy Spinal muscular atrophy Reduced tendon reflexes Knee flexion contracture Frequent falls Waddling gait Falls Bundle branch block Chest pain Increased LDL cholesterol concentration Heberden's node Hyperhidrosis Hip flexor weakness Limited neck flexion Scapuloperoneal weakness Axial muscle weakness Dysphonia Left ventricular hypertrophy Schmorl's node Knee osteoarthritis Arthralgia Morphological abnormality of the central nervous system Hip pain Hip osteoarthritis Irregular vertebral endplates Arthropathy Pathologic fracture Osteoarthritis Joint hypermobility Platyspondyly Macrotia Abnormal pyramidal sign Paresthesia Clubbing of fingers Diarrhea Respiratory distress Peripheral neuropathy Delayed speech and language development Cataract Abnormality of the Leydig cells Clubbing of toes Erythema nodosum Episodic fever Skin rash Microcytic anemia Elevated erythrocyte sedimentation rate Increased antibody level in blood Hyperostosis Abnormality of the face Thick lower lip vermilion Prominent nose Macroglossia Lymphadenopathy Abnormal atrioventricular conduction Atrial arrhythmia Unilateral ptosis Astigmatism Narrow face Abnormality of retinal pigmentation Abnormal lung morphology Lumbar hyperlordosis Wide intermamillary distance Webbed neck Triangular face Abnormality of skin pigmentation Abnormality of the foot Adducted thumb Abnormality of eye movement Hypermetropia Ophthalmoplegia Retinopathy Blepharophimosis Narrow mouth Areflexia Epicanthus Bilateral single transverse palmar creases Abnormal electroretinogram Strabismus Keratoconus Retinal fold Tapetoretinal degeneration Abnormality of the rib cage Overlapping fingers Hypoventilation Distal arthrogryposis Aplasia/Hypoplasia of the radius Ulnar deviation of finger Abnormality of the sternum Bilateral ptosis Tarsal synostosis Abnormality of the hip bone Vertebral segmentation defect Long fingers Restrictive ventilatory defect Macular dystrophy Decreased muscle mass Mask-like facies Congenital contracture Cleft palate Short metacarpals with rounded proximal ends Shoulder girdle muscle atrophy Proximal spinal muscular atrophy Thin upper lip vermilion Upslanted palpebral fissure Severe short stature Long philtrum Short nose Absent muscle fiber emerin Restricted neck movement due to contractures Decreased cervical spine flexion due to contractures of posterior cervical muscles Type 1 muscle fiber atrophy Small hand Proximal upper limb amyotrophy Scapuloperoneal amyotrophy Ventricular escape rhythm Peroneal muscle weakness Left anterior fascicular block Limb-girdle muscle atrophy Proximal muscle weakness in upper limbs Proximal lower limb amyotrophy Peroneal muscle atrophy Talipes Short foot Irregular capital femoral epiphysis Dysostosis multiplex Tricuspid stenosis J-shaped sella turcica Tip-toe gait Hypoplasia of the capital femoral epiphysis Thickened helices Lack of skin elasticity Mitral stenosis Ovoid vertebral bodies Tracheal stenosis Round face Right ventricular hypertrophy High pitched voice Cone-shaped epiphysis Bicuspid aortic valve Aortic regurgitation Coxa valga Aortic valve stenosis Small nail Limb undergrowth Anterior concavity of thoracic vertebrae



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