Congestive heart failure, and Arthrogryposis multiplex congenita

Diseases related with Congestive heart failure and Arthrogryposis multiplex congenita

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


Top matches:

High match EARLY-ONSET MYOPATHY WITH FATAL CARDIOMYOPATHY


EARLY-ONSET MYOPATHY WITH FATAL CARDIOMYOPATHY Is also known as myopathy, early-onset, with fatal cardiomyopathy|salih myopathy|eomfc

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Hypertelorism
  • Muscle weakness
  • Ptosis


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about EARLY-ONSET MYOPATHY WITH FATAL CARDIOMYOPATHY

High match SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 1; SMABF1


Spinal muscular atrophy with congenital bone fractures is an autosomal recessive severe neuromuscular disorder characterized by onset of severe hypotonia in utero. This results in congenital contractures, consistent with arthrogryposis multiplex congenita, and increased incidence of prenatal fracture of the long bones. Affected infants have difficulty breathing and feeding and often die in the first months or years of life (summary by Knierim et al., 2016). Genetic Heterogeneity of Spinal Muscular Atrophy With Congenital Bone FracturesSee also SMABF2 (OMIM ), caused by mutation in the ASCC1 gene (OMIM ) on chromosome 10q22.

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Hypertelorism
  • Muscle weakness
  • Flexion contracture


SOURCES: OMIM MENDELIAN

More info about SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 1; SMABF1

High match GLYCOGEN STORAGE DISEASE IV; GSD4


GLYCOGEN STORAGE DISEASE IV; GSD4 Is also known as andersen disease|brancher deficiency|gbe1 deficiency|amylopectinosis|gsd iv|glycogen branching enzyme deficiency|cirrhosis, familial, with deposition of abnormal glycogen|glycogenosis iv

Related symptoms:

  • Generalized hypotonia
  • Failure to thrive
  • Muscle weakness
  • Muscular hypotonia
  • Flexion contracture


SOURCES: OMIM MENDELIAN

More info about GLYCOGEN STORAGE DISEASE IV; GSD4

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Other less relevant matches:

High match NEMALINE MYOPATHY 1; NEM1


Nemaline myopathy-1 is a disorder characterized by muscle weakness, usually beginning in early childhood. The severity and pattern of muscle weakness varies, but most affected individuals show mildly delayed motor development, hypotonia, generalized muscle weakness, and weakness of the proximal limb muscles and neck muscles, resulting in difficulty running and easy fatigability. Most patients have respiratory insufficiency due to muscle weakness. Other common features include myopathic facies, high-arched palate, and scoliosis. Histologic findings on skeletal muscle biopsy are variable, even in patients with the same mutation. Muscle fibers can contain nemaline rod inclusions, or so-called subsarcolemmal 'cap' structures, as well as show overall fiber-type disproportion. It has been suggested that unknown modifying factors confer a tendency to one or another pattern of inclusions on skeletal muscle biopsy in those with TPM3 mutations (summary by Waddell et al., 2010 and Malfatti et al., 2013).For a discussion of genetic heterogeneity of nemaline myopathy, see {161800}.

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness
  • Muscular hypotonia
  • Flexion contracture


SOURCES: MESH OMIM MENDELIAN

More info about NEMALINE MYOPATHY 1; NEM1

High 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

High match RIGID SPINE SYNDROME


Rigid spine syndrome (RSS) is a slowly progressive childhood-onset congenital muscular dystrophy (see this term) characterized by contractures of the spinal extensor muscles associated with abnormal posture (limitation of neck and trunk flexure), progressive scoliosis of the spine, early marked cervico-axial muscle weakness with relatively preserved strength and function of the extremities and progressive respiratory insufficiency.

RIGID SPINE SYNDROME Is also known as minicore myopathy, severe classic form|mdrs1|desmin-related myopathy with mallory bodies|multiminicore disease, severe classic form|myopathy, sepn1-related|rigid spine syndrome|muscular dystrophy, congenital, eichsfeld type|rigid spine congenital muscular

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Failure to thrive


SOURCES: OMIM ORPHANET MENDELIAN

More info about RIGID SPINE SYNDROME

High match CONGENITAL MYOPATHY WITH EXCESS OF THIN FILAMENTS


Nemaline myopathy is a form of congenital myopathy characterized by abnormal thread- or rod-like structures in muscle fibers on histologic examination ('nema' is Greek for 'thread'). The clinical phenotype is highly variable, with differing age at onset and severity. Muscle weakness typically involves proximal muscles, with involvement of the facial, bulbar, and respiratory muscles (Ilkovski et al., 2001). Attempts at classification of nemaline myopathies into clinical subtypes have been complicated by the overlap of clinical features and a continuous phenotypic spectrum of disease (North et al., 1997; Wallgren-Pettersson et al., 1999; Ryan et al., 2001; Sanoudou and Beggs, 2001). In general, 2 clinical groups can be readily distinguished: 'typical' and 'severe.' Typical nemaline myopathy is the most common form, presenting as infantile hypotonia and muscle weakness. It is slowly progressive or nonprogressive, and most adults achieve ambulation. The severe form of the disorder is characterized by absence of spontaneous movement or respiration at birth, arthrogryposis, and death in the first months of life. Much less commonly, late-childhood or even adult-onset can occur. However, adult-onset nemaline myopathy is usually not familial and may represent a different disease (Wallgren-Pettersson et al., 1999; Sanoudou and Beggs, 2001).Myopathy caused by mutations in the ACTA1 gene can show a range of clinical and pathologic phenotypes. Some patients have classic rods, whereas others may also show intranuclear rods, clumped filaments, cores, or fiber-type disproportion (see {255310}), all of which are nonspecific pathologic findings and not pathognomonic of a specific congenital myopathy. The spectrum of clinical phenotypes caused by mutations in ACTA1 may result from different mutations, modifying factors affecting the severity of the disorder, variability in clinical care, or a combination of these factors (Nowak et al., 1999; Kaindl et al., 2004). Genetic Heterogeneity of Nemaline MyopathySee also NEM1 (OMIM ), caused by mutation in the tropomyosin-3 gene (TPM3 ) on chromosome 1q22; NEM2 (OMIM ), caused by mutation in the nebulin gene (NEB ) on chromosome 2q23; NEM4 (OMIM ), caused by mutation in the beta-tropomyosin gene (TPM2 ) on chromosome 9p13; NEM5 (OMIM ), also known as Amish nemaline myopathy, caused by mutation in the troponin T1 gene (TNNT1 ) on chromosome 19q13; NEM6 (OMIM ), caused by mutation in the KBTBD13 gene (OMIM ) on chromosome 15q22; NEM7 (OMIM ), caused by mutation in the cofilin-2 gene (CFL2 ) on chromosome 14q13; NEM8 (OMIM ), caused by mutation in the KLHL40 gene (OMIM ), on chromosome 3p22; NEM9 (OMIM ), caused by mutation in the KLHL41 gene (OMIM ) on chromosome 2q31; NEM10 (OMIM ), caused by mutation in the LMOD3 gene (OMIM ) on chromosome 3p14; and NEM11 (OMIM ), caused by mutation in the MYPN gene (OMIM ) on chromosome 10q21. Several of the genes encode components of skeletal muscle sarcomeric thin filaments (Sanoudou and Beggs, 2001).Mutations in the NEB gene are the most common cause of nemaline myopathy (Lehtokari et al., 2006).

CONGENITAL MYOPATHY WITH EXCESS OF THIN FILAMENTS Is also known as actin myopathy

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Failure to thrive
  • Muscle weakness
  • Flexion contracture


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about CONGENITAL MYOPATHY WITH EXCESS OF THIN FILAMENTS

High match COG7-CDG


COG7-CDG is a congenital disorder of glycosylation characterised by dysmorphism, skeletal dysplasia, hypotonia, hepatosplenomegaly, jaundice, cardiac insufficiency, recurrent infections and epilepsy. To date, it has been described in two infants, both of whom died within the first three months of life. The syndrome is caused by a mutation in the gene encoding COG-7 (chromosome 16), a subunit of the oligomeric Golgi complex.

COG7-CDG Is also known as carbohydrate deficient glycoprotein syndrome type iie|congenital disorder of glycosylation type 2e|cdg iie|cdg syndrome type iie|cdg2e|congenital disorder of glycosylation type iie|cdg-iie|cdgiie

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about COG7-CDG

High 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

High match MELAS


MELAS (Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke) syndrome is a rare progressive multisystemic disorder characterized by encephalomyopathy, lactic acidosis, and stroke-like episodes. Other features include endocrinopathy, heart disease, diabetes, hearing loss, and neurological and psychiatric manifestations.

MELAS Is also known as mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes|melas syndrome|mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MELAS

Top 5 symptoms//phenotypes associated to Congestive heart failure and Arthrogryposis multiplex congenita

Symptoms // Phenotype % cases
Muscle weakness Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Flexion contracture Common - Between 50% and 80% cases
Cardiomyopathy Common - Between 50% and 80% cases
Myopathy Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Congestive heart failure and Arthrogryposis multiplex congenita. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Respiratory insufficiency

Uncommon Symptoms - Between 30% and 50% cases


Skeletal muscle atrophy Failure to thrive Areflexia Hyperlordosis Scoliosis High palate Muscular hypotonia Hepatomegaly Motor delay Fever Hypertension Global developmental delay Decreased fetal movement Waddling gait Respiratory failure Respiratory distress Dysphagia Proximal muscle weakness Hyporeflexia Myopathic facies Generalized muscle weakness Dilated cardiomyopathy Facial palsy Muscular dystrophy Increased variability in muscle fiber diameter Facial diplegia Apnea Congenital contracture Limb muscle weakness Distal arthrogryposis Abnormality of the liver Short stature Hypoventilation Pectus excavatum Hypertrophic cardiomyopathy Neonatal hypotonia Arrhythmia Ptosis Edema Difficulty climbing stairs Hypertonia Hypertelorism Feeding difficulties Short neck Narrow face Congenital muscular dystrophy Peripheral neuropathy Dyspnea Mask-like facies Knee flexion contracture

Rare Symptoms - Less than 30% cases


Neck muscle weakness Sensory impairment Joint stiffness Lumbar hyperlordosis Frequent falls Kyphosis Progressive muscle weakness Retrognathia Slender build Abnormality of retinal pigmentation Respiratory insufficiency due to muscle weakness EMG: myopathic abnormalities Bilateral ptosis Falls Decreased muscle mass Nemaline bodies Easy fatigability Cough Arachnodactyly Abnormality of the rib cage Feeding difficulties in infancy Abnormality of the skeletal system Hyperreflexia Seizures Microcephaly Growth delay Micrognathia Anemia Diarrhea Cerebral atrophy Jaundice Proteinuria Ophthalmoplegia Abnormality of the pinna Polyneuropathy Spinal rigidity Abnormality of immune system physiology Ventricular hypertrophy Joint contracture of the hand Rigidity Intellectual disability Hearing impairment Sensorineural hearing impairment Protruding ear Adducted thumb Pes cavus Exercise intolerance Difficulty running Centrally nucleated skeletal muscle fibers Pulmonary hypoplasia Polyhydramnios Reduced tendon reflexes Webbed neck Peripheral axonal neuropathy Akinesia Abnormal cardiac septum morphology Elevated serum creatine phosphokinase Fetal akinesia sequence Muscle fiber atrophy Generalized amyotrophy Hepatosplenomegaly Narrow mouth Talipes equinovarus Minicore myopathy Sudden cardiac death Gingival overgrowth Anorexia Gait ataxia Left ventricular hypertrophy Paresthesia Weight loss Decreased body weight Involuntary movements Autism Hypothyroidism Hypertrichosis Acidosis Hemiparesis Gastroesophageal reflux Photophobia EEG abnormality Cerebral cortical atrophy Abdominal pain Hallucinations EMG abnormality Delayed skeletal maturation Pancreatitis Macular degeneration Purpura Constipation Type I diabetes mellitus Hypogonadotrophic hypogonadism Generalized hirsutism Cerebellar hypoplasia Cerebral visual impairment Rod-cone dystrophy Dementia Myoclonus Osteoporosis Hypogonadism Diabetes mellitus Truncal ataxia Cardiac arrest Clonus Myalgia Anxiety Atrial fibrillation Carious teeth Stroke Coma Nephropathy Neurological speech impairment Pruritus Generalized tonic-clonic seizures Lethargy Congenital cataract Hirsutism Nausea and vomiting Postural instability Polymicrogyria Malabsorption Delayed puberty Nausea Lactic acidosis Vertigo Ichthyosis Confusion Anal atresia Ragged-red muscle fibers Attention deficit hyperactivity disorder Muscle cramps Psychosis Pigmentary retinopathy Status epilepticus Pulmonary arterial hypertension Dysmetria Mental deterioration Type II diabetes mellitus Nephrotic syndrome Bilateral sensorineural hearing impairment Generalized-onset seizure Abnormality of the cardiovascular system Cerebral calcification Abnormal cerebellum morphology Amenorrhea Developmental regression Specific learning disability Erythema Nyctalopia Hip dysplasia Memory impairment Increased serum lactate Migraine Generalized myoclonic seizures External ophthalmoplegia Progressive sensorineural hearing impairment Ischemic stroke Retinal pigment epithelial atrophy Persistence of primary teeth Writer's cramp Psychomotor deterioration Dysesthesia Motor polyneuropathy Episodic vomiting Abnormality of the renal tubule Hemianopia Ileus Proximal tubulopathy Abnormality of peripheral nerve conduction Speech apraxia Spontaneous hematomas Left ventricular failure Seborrheic dermatitis Stroke-like episode Anterior hypopituitarism Gait imbalance Reduced consciousness/confusion Cerebral ischemia Wolff-Parkinson-White syndrome Increased CSF lactate Visual hallucinations Tubulointerstitial nephritis Leber optic atrophy Gastroparesis Aortic dissection Cochlear malformation Morphological abnormality of the inner ear Morphological abnormality of the vestibule of the inner ear Bilateral intracranial calcifications Episodic quadriplegia Abnormality of acid-base homeostasis Homonymous hemianopia Abnormal cochlea morphology Paralytic ileus Abnormal mitochondrial shape Cochlear degeneration Progressive night blindness Edema of the dorsum of hands Amaurosis fugax Abnormal mitochondrial morphology Paronychia Spotty hypopigmentation Abnormal macular morphology Hemeralopia Crohn's disease Abnormality of the cerebellar vermis Psychotic episodes Tubulointerstitial abnormality Renal Fanconi syndrome Abnormal nerve conduction velocity Auditory hallucinations Renal tubular dysfunction Cardiorespiratory arrest Hypopigmented skin patches Hyponatremia Bundle branch block Adrenal insufficiency Overlapping toe Abnormality of neuronal migration Focal segmental glomerulosclerosis Hemiplegia/hemiparesis Bifid scrotum Aplasia/Hypoplasia of the cerebellum Intestinal obstruction Personality changes Ophthalmoparesis Abnormality of mitochondrial metabolism Vestibular dysfunction Aortic aneurysm Hemiplegia Hypercalciuria Decreased nerve conduction velocity Cachexia Atrioventricular block Chronic kidney disease Growth abnormality Hyperkinesis Goiter Schizophrenia Mutism Aphasia Dysphasia Delusions Atopic dermatitis Transient ischemic attack Posterior subcapsular cataract Progressive external ophthalmoplegia Mitochondrial myopathy Hypoparathyroidism Heart block Xerostomia Vitiligo Neonatal hypoglycemia Abnormality of visual evoked potentials Hashimoto thyroiditis Drowsiness Hyperkalemia Pulmonary embolism Primary adrenal insufficiency Thyroiditis Rhabdomyolysis Hyperthyroidism Basal ganglia calcification Glomerulopathy Encephalopathy Vertebral fusion Multiple lipomas Prolonged QT interval Visual field defect Visual loss Retinopathy Depressivity Abnormality of the face Episodic fever Lipoatrophy Microcytic anemia Elevated erythrocyte sedimentation rate Increased antibody level in blood Right bundle branch block Hyperostosis Lipodystrophy Subcutaneous nodule Thick lower lip vermilion Erythema nodosum Cardiomegaly Prominent nose Macroglossia Lymphadenopathy Skin rash Abnormal pyramidal sign Arthralgia Macrotia Hyperhidrosis Splenomegaly Clubbing of fingers Clubbing of toes Shoulder girdle muscle atrophy Cor pulmonale Hamstring contractures Crackles Orthopnea Nocturnal hypoventilation Muscle fiber necrosis Peroneal muscle atrophy Reduced vital capacity Respiratory arrest Axial muscle weakness Restrictive deficit on pulmonary function testing Right ventricular hypertrophy Abnormality of the Leydig cells Thoracolumbar scoliosis Malignant hyperthermia Hip contracture High pitched voice Gowers sign Nasal speech Poor head control Elbow flexion contracture Abnormality of the cerebral white matter Pneumonia Intellectual disability, mild Myokymia Abnormality of skeletal morphology Patent ductus arteriosus Secundum atrial septal defect Axonal loss Neonatal respiratory distress Spinal muscular atrophy Patent foramen ovale Severe muscular hypotonia Microretrognathia Hypohidrosis Oligohydramnios Premature birth Mitochondrial depletion Fractures of the long bones Increased endomysial connective tissue Abnormal levels of creatine kinase in blood Left ventricular noncompaction Cleft soft palate Ankle contracture Calf muscle hypertrophy Radioulnar synostosis Hip dislocation Atrial septal defect Ventricular septal defect Diaphragmatic eventration Multiple prenatal fractures Distal lower limb muscle weakness Tubulointerstitial fibrosis Distal lower limb amyotrophy Thoracic kyphosis Muscle stiffness Open mouth Long face Narrow chest Pectus carinatum Distal muscle weakness Pes planus Limb joint contracture Generalized edema Difficulty walking Esophageal varix Exertional dyspnea Limb-girdle muscular dystrophy Portal hypertension Decreased liver function Hepatic fibrosis Hydrops fetalis Ascites Hepatic failure Cirrhosis Limited neck flexion Type 1 and type 2 muscle fiber minicore regions Headache Ulnar deviation of finger Round ear Keratoglobus Decreased palmar creases Ulnar deviation of the wrist Duane anomaly Unilateral ptosis Retinal fold Tapetoretinal degeneration Overlapping fingers Aplasia/Hypoplasia of the radius Keratoconus Absent phalangeal crease Abnormality of the sternum Tarsal synostosis Abnormality of the hip bone Vertebral segmentation defect Long fingers Restrictive ventilatory defect Macular dystrophy Bilateral talipes equinovarus Abnormal electroretinogram Bilateral single transverse palmar creases Congenital finger flexion contractures Limited wrist extension Wide intermamillary distance Optic atrophy Renal insufficiency Dystonia Abnormality of the dentition Vomiting Cerebellar atrophy Blindness Ventriculomegaly Fatigue Gait disturbance Tremor Dysarthria Amyoplasia Visual impairment Cognitive impairment Cataract Pain Nystagmus Ataxia Internally rotated shoulders Exophoria Firm muscles Decreased facial expression Abnormal lung morphology Triangular face Abnormality on pulmonary function testing EMG: neuropathic changes Thrombocytopenia Recurrent infections Behavioral abnormality Late-onset distal muscle weakness Percussion myotonia Fetal distress Diaphragmatic paralysis Neck flexor weakness Breech presentation Type 1 muscle fiber predominance Thin ribs Elevated hepatic transaminase Bulbar palsy Mildly elevated creatine phosphokinase Myotonia Infantile muscular hypotonia Foot dorsiflexor weakness Genu valgum Paralysis Respiratory tract infection Recurrent respiratory infections Cardiac conduction abnormality Abnormal heart morphology Flat face Abnormality of skin pigmentation Epicanthus Astigmatism Abnormality of the foot Abnormality of eye movement Hypermetropia Blepharophimosis Camptodactyly Deeply set eye Alopecia Clinodactyly Wide nasal bridge Cleft palate Thick vermilion border Strabismus Mild proteinuria Abnormal glycosylation Areflexia of lower limbs Premature skin wrinkling Inverted nipples Protruding tongue Cholestasis Dehydration Delayed myelination Prominent ear helix



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