Congestive heart failure, and Polyhydramnios

Diseases related with Congestive heart failure and Polyhydramnios

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


Top matches:

High match HB BART'S HYDROPS FETALIS


Hb Bart's hydrops fetalis is the most severe form of alpha-thalassemia (see this term) and is almost always lethal. It is characterized by fetal onset of generalized edema, pleural and pericardial effusions, and severe hypochromic anemia.

HB BART'S HYDROPS FETALIS Is also known as alpha-thalassemia major|alpha-thalassemia hydrops fetalis|homozygous alpha0-thalassemia|hemoglobin bart's hydrops fetalis

Related symptoms:

  • Anemia
  • Hepatomegaly
  • Hydrocephalus
  • Congestive heart failure
  • Splenomegaly


SOURCES: ORPHANET MENDELIAN

More info about HB BART'S HYDROPS FETALIS

High match NEONATAL SEVERE CARDIOPULMONARY FAILURE DUE TO MITOCHONDRIAL METHYLATION DEFECT


Combined oxidative phosphorylation deficiency-28 (COXPD28) is a complex autosomal recessive multisystem disorder associated with mitochondrial dysfunction. The phenotype is variable, but includes episodic metabolic decompensation beginning in infancy that can result in mild muscle weakness, cardiorespiratory insufficiency, developmental delay, or even death. Biochemical studies of patient tissues show variable mitochondrial defects, including decreased activities of respiratory chain enzymes (summary by Kishita et al., 2015).For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (OMIM ).

NEONATAL SEVERE CARDIOPULMONARY FAILURE DUE TO MITOCHONDRIAL METHYLATION DEFECT Is also known as combined oxidative phosphorylation defect type 28|coxpd28

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Muscle weakness
  • Pain
  • Hypertension


SOURCES: OMIM ORPHANET MENDELIAN

More info about NEONATAL SEVERE CARDIOPULMONARY FAILURE DUE TO MITOCHONDRIAL METHYLATION DEFECT

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 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 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 MEND SYNDROME


MEND syndrome is a rare, genetic, syndromic, sterol biosynthesis disorder affecting males characterized by skin manifestations, including collodion membrane, ichthyosis, and patchy hypopigmentary lesions, associated with severe neurological involvement (e.g. intellectual disability, delayed psychomotor development, seizures, hydrocephalus, cerebellar/corpus callosum hypoplasia, Dandy-Walker malformation, hypotonia) and craniofacial dysmorphism (large anterior fontanelle, telecanthus, hypertelorism, microphthalmia, prominent nasal bridge, low-set ears, micrognathia, cleft palate). 2,3 toe syndactyly, polydactyly, and kyphosis, as well as ophthalmic, cardiac and urogenital anomalies may also be associated.

MEND SYNDROME Is also known as male ebp disorder with neurologic defects|male ebp disorder with neurological defects

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MEND SYNDROME

High match D-BIFUNCTIONAL PROTEIN DEFICIENCY


D-bifunctional protein deficiency is a disorder of peroxisomal fatty acid beta-oxidation. See also peroxisomal acyl-CoA oxidase deficiency (OMIM ), caused by mutation in the ACOX1 gene (OMIM ) on chromosome 17q25. The clinical manifestations of these 2 deficiencies are similar to those of disorders of peroxisomal assembly, including X-linked adrenoleukodystrophy (ALD ), Zellweger cerebrohepatorenal syndrome (see {214100}) and neonatal adrenoleukodystrophy (NALD; see {601539}) (Watkins et al., 1995).DBP deficiency has been classified into 3 subtypes depending upon the deficient enzyme activity. Type I is a deficiency of both 2-enoyl-CoA hydratase and 3-hydroxyacyl-CoA dehydrogenase; type II is a deficiency of hydratase activity alone; and type III is a deficiency of dehydrogenase activity alone. Virtually all patients with types I, II, and III have a severe phenotype characterized by infantile-onset of hypotonia, seizures, and abnormal facial features, and most die before age 2 years. McMillan et al. (2012) proposed a type IV deficiency on the basis of less severe features; these patients have a phenotype reminiscent of Perrault syndrome (PRLTS1 ). Pierce et al. (2010) noted that Perrault syndrome and DBP deficiency overlap clinically and suggested that DBP deficiency may be underdiagnosed.

D-BIFUNCTIONAL PROTEIN DEFICIENCY Is also known as peroxisomal bifunctional enzyme deficiency|dbp deficiency|17-beta-hydroxysteroid dehydrogenase iv deficiency|pbfe deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Hypertelorism


SOURCES: ORPHANET OMIM MENDELIAN

More info about D-BIFUNCTIONAL PROTEIN DEFICIENCY

High match ZIMMERMANN-LABAND SYNDROME


Zimmermann-Laband syndrome (ZLS) is a rare disorder characterized by gingival fibromatosis, coarse facial appearance, and absence or hypoplasia of nails or terminal phalanges of hands and feet.

ZIMMERMANN-LABAND SYNDROME Is also known as laband syndrome|gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome|fibromatosis, gingival, with abnormal fingers, fingernails, nose, and ears, and splenomegaly

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about ZIMMERMANN-LABAND SYNDROME

High match VACTERL/VATER ASSOCIATION


VACTERL/VATER is an association of congenital malformations typically characterized by the presence of at least three of the following: vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities.

VACTERL/VATER ASSOCIATION Is also known as vacterl association|vater association

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Scoliosis
  • Growth delay
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about VACTERL/VATER ASSOCIATION

High match ROBERTS SYNDROME


Roberts syndrome (RBS) is characterized by pre- and postnatal growth retardation, severe symmetric limb reduction defects, craniofacial anomalies and severe intellectual deficit. SC phocomelia is a milder form of RBS.

ROBERTS SYNDROME Is also known as pseudothalidomide syndrome|roberts-sc phocomelia syndrome|sc pseudothalidomide syndrome|sc phocomelia

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about ROBERTS SYNDROME

Top 5 symptoms//phenotypes associated to Congestive heart failure and Polyhydramnios

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Failure to thrive Common - Between 50% and 80% cases
Seizures Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


High palate Scoliosis Hepatomegaly Cataract Talipes equinovarus Macrocephaly Cardiomyopathy Premature birth Retrognathia Flexion contracture Polydactyly Posteriorly rotated ears Muscular hypotonia Micrognathia Cleft palate Abnormal cardiac septum morphology Brachydactyly Ventriculomegaly Strabismus Cryptorchidism Decreased fetal movement Hypertelorism Hydrocephalus Dilatation Abnormality of the skeletal system Edema Hypertension Muscle weakness

Rare Symptoms - Less than 30% cases


Decreased muscle mass Feeding difficulties in infancy Respiratory tract infection Short stature Paralysis Absent radius Thick lower lip vermilion Falls Pulmonary hypoplasia Narrow face Wide nasal bridge Knee flexion contracture Long face Wide mouth High forehead Atrial septal defect Anemia Prominent nasal bridge Low-set ears Postnatal growth retardation Patent ductus arteriosus Downslanted palpebral fissures Small nail Hemivertebrae Hemangioma Large fontanelles Long penis Cavernous hemangioma Pneumonia Growth delay Hypospadias Intrauterine growth retardation Abnormality of cardiovascular system morphology Finger syndactyly Ventricular septal defect Abnormal facial shape Nystagmus Hearing impairment Ectopic kidney Short thumb Aortic valve stenosis Thick vermilion border Bulbous nose Hypoplasia of the radius Low-set, posteriorly rotated ears Radioulnar synostosis Syndactyly Hypoplasia of the corpus callosum Neonatal hypotonia Severe global developmental delay Limb muscle weakness Ascites Respiratory failure Hydrops fetalis Abnormality of the liver Hyperlordosis Proximal muscle weakness Myopathic facies Akinesia Difficulty walking Pain Feeding difficulties Hepatosplenomegaly Fetal akinesia sequence Dilated cardiomyopathy Arthrogryposis multiplex congenita Dyspnea Hyporeflexia Dysphagia Myopathy Hypertonia Waddling gait Respiratory insufficiency Skeletal muscle atrophy Pectus excavatum Splenomegaly Facial asymmetry Anal atresia Fair hair Patellar aplasia Abnormality of the upper limb Vesicoureteral reflux Subvalvular aortic stenosis Phocomelia Abnormality of the kidney Hydronephrosis Abnormal heart morphology Humeroradial synostosis Tachycardia Chest pain Intestinal malrotation Recurrent urinary tract infections Spina bifida Situs inversus totalis Preauricular skin tag Abnormal vertebral morphology Upper limb undergrowth Capillary hemangioma Renal dysplasia Abnormality of the genital system Renal agenesis Omphalocele Choanal atresia Abnormality of the ribs Low hanging columella Congenital diaphragmatic hernia Ambiguous genitalia Hypoplasia of penis Tetralogy of Fallot Wrist flexion contracture Facial hemangioma Aplasia of the ulna Bilateral sensorineural hearing impairment Accelerated skeletal maturation Intellectual disability, progressive Generalized hirsutism Gingival overgrowth Thickened skin Nephrolithiasis Hypertrichosis Tetraphocomelia Intellectual disability, profound Overgrowth Mesomelic arm shortening Macroglossia Delayed eruption of teeth Hirsutism Short distal phalanx of finger Thick eyebrow Joint hypermobility Midface capillary hemangioma Synophrys Congenital cataract Broad forehead Spina bifida occulta Growth abnormality Complete duplication of thumb phalanx Gingival fibromatosis Mesiodens Short distal phalanx of toe Abnormality of the outer ear Prominent eyelashes Aortic arch aneurysm Everted upper lip vermilion Generalized hypertrichosis Biliary atresia Hyperextensibility of the finger joints Absent earlobe Metaphyseal widening Colpocephaly Thin bony cortex Dystrophic fingernails Broad ribs Protruding tongue Aortic root aneurysm Progressive flexion contractures Pericardial effusion Anonychia Large for gestational age Multicystic kidney dysplasia Bifid scrotum Severe intrauterine growth retardation Abnormality of the intervertebral disk Abnormal tracheobronchial morphology Perineal fistula Potter facies Abnormality of the gallbladder Hemifacial hypoplasia Absence of the sacrum Anorectal anomaly Abnormality of the urethra Lower limb undergrowth Patent urachus Vertebral clefting Laryngeal stenosis Abnormality of the nasopharynx Abnormal sacrum morphology Bilateral single transverse palmar creases Wormian bones Opacification of the corneal stroma Sandal gap Asymmetric crying face Microcephaly Supernumerary ribs Myocardial infarction Underdeveloped nasal alae Hypotrichosis Corneal opacity Sparse hair Craniosynostosis Blue sclerae Proptosis Glaucoma Hemiparesis Neoplasm Brachycephaly Clinodactyly of the 5th finger Clinodactyly Thrombocytopenia Bowing of the long bones Microphthalmia Malar flattening Intellectual disability, mild Short neck Melanoma Polycystic kidney dysplasia Tachypnea Bundle branch block Abnormality of the sternum Non-midline cleft lip Vertebral segmentation defect Hypoplastic left heart Right bundle branch block Hip contracture Underdeveloped supraorbital ridges Synostosis of carpal bones Dextrocardia Occipital encephalocele Preaxial hand polydactyly Tracheoesophageal fistula Unilateral renal agenesis Cleft upper lip Triphalangeal thumb Preaxial polydactyly Laryngomalacia External ear malformation Transposition of the great arteries Wheezing Tethered cord Atelectasis Clitoral hypertrophy Proximal placement of thumb Ureteropelvic junction obstruction Umbilical hernia Radial deviation of finger Abnormality of female internal genitalia Abnormality of the pancreas Short femoral neck Rectovaginal fistula Aplasia/Hypoplasia of the thumb Absent thumb Duodenal atresia Tracheal stenosis Single umbilical artery Missing ribs Aplasia/Hypoplasia of the lungs Esophageal atresia Anencephaly Aplasia/Hypoplasia of the radius Protruding ear Osteopenia Coarse facial features Mildly elevated creatine phosphokinase Type 1 muscle fiber predominance Nemaline bodies Facial diplegia EMG: neuropathic changes Hypoventilation Thin ribs Spinal rigidity Bulbar palsy Mask-like facies Slender build Myotonia Congenital contracture EMG: myopathic abnormalities Infantile muscular hypotonia Respiratory insufficiency due to muscle weakness Foot dorsiflexor weakness Joint contracture of the hand Frequent falls Generalized muscle weakness Breech presentation Neck flexor weakness Cough Open mouth Facial hypotonia Megalencephaly Diabetes insipidus Focal impaired awareness seizure Tented upper lip vermilion Drooling Shock Nephrocalcinosis Increased body weight Status epilepticus Diaphragmatic paralysis Focal-onset seizure Highly arched eyebrow Inability to walk Leukemia Joint laxity Absent speech Late-onset distal muscle weakness Percussion myotonia Fetal distress Genu valgum Apnea Large forehead Bradycardia Peripheral neuropathy Decreased activity of mitochondrial complex IV Caesarian section Decreased activity of mitochondrial complex I Increased serum pyruvate Severe lactic acidosis Poor appetite Abnormality of mitochondrial metabolism Ragged-red muscle fibers Increased serum lactate Cirrhosis Lactic acidosis Acidosis Abdominal pain Fatigue Abnormal hemoglobin Preeclampsia Pericarditis Oligohydramnios Pallor Muscular dystrophy Hepatic failure Facial palsy Tubulointerstitial fibrosis Hypertrophic cardiomyopathy Rigidity Pes cavus Recurrent respiratory infections Areflexia Respiratory distress Hyperreflexia Motor delay Limb joint contracture Generalized edema Sudden cardiac death Esophageal varix Exertional dyspnea Difficulty climbing stairs Limb-girdle muscular dystrophy Portal hypertension Reduced tendon reflexes Exercise intolerance Decreased liver function Hepatic fibrosis Thick upper lip vermilion Astrocytosis Macrotia Peripheral demyelination Hammertoe Decreased nerve conduction velocity Progressive hearing impairment Aspiration Pachygyria Heterotopia Cholestasis Split hand Progressive visual loss Delayed cranial suture closure Gliosis Abdominal distention Renal cyst Hepatic steatosis Polymicrogyria Talipes Abnormality of the cerebral white matter Dolichocephaly Elevated hepatic transaminase Aplasia/Hypoplasia of the cerebellum Thoracic hypoplasia Delayed skeletal maturation Chylous ascites Mandibular prognathia Hernia Intellectual disability, severe Myopia Sensorineural hearing impairment Generalized cerebral atrophy/hypoplasia Calcific stippling Fetal ascites Renal cortical microcysts Cerebral hypoplasia Cortical dysplasia Cerebral dysmyelination Enterocolitis Bile duct proliferation Corpus callosum atrophy Undetectable electroretinogram Aspiration pneumonia Adrenal hypoplasia Scaphocephaly Primary adrenal insufficiency Upslanted palpebral fissure Visual loss Multifocal epileptiform discharges Muscular hypotonia of the trunk Dandy-Walker malformation Wide intermamillary distance Esotropia Hypopigmentation of the skin Single transverse palmar crease Wide nose Ichthyosis Smooth philtrum Toe syndactyly Aggressive behavior Narrow palpebral fissure Deeply set eye Skeletal dysplasia Cerebral cortical atrophy Hyperactivity Agenesis of corpus callosum Midface retrusion Hypovolemic shock Hyperplasia of midface Minimal subcutaneous fat Narrow forehead Microretrognathia Long philtrum Long neck Cerebellar atrophy Frontal bossing Optic atrophy Epicanthus Depressed nasal bridge Visual impairment Olivopontocerebellar hypoplasia Hypoplastic aortic arch Spotty hypopigmentation Otosclerosis Sacral dimple Overlapping fingers Narrow nose Epiphyseal stippling Long fingers Broad hallux Overlapping toe 2-3 toe syndactyly Self-injurious behavior Overfolded helix Premature separation of centromeric heterochromatin



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