Congestive heart failure, and Round face

Diseases related with Congestive heart failure and Round face

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


Top matches:

High match PEROXISOME BIOGENESIS DISORDER 10A (ZELLWEGER); PBD10A


Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome resulting from disordered peroxisome biogenesis. Affected children present in the newborn period with profound hypotonia, seizures, and inability to feed. Characteristic craniofacial anomalies, eye abnormalities, neuronal migration defects, hepatomegaly, and chondrodysplasia punctata are present. Children with this condition do not show any significant development and usually die in the first year of life (summary by Steinberg et al., 2006).For a complete phenotypic description and a discussion of genetic heterogeneity of Zellweger syndrome, see {214100}.Individuals with PBDs of complementation group 12 (CG12, equivalent to CGG) have mutations in the PEX3 gene. For information on the history of PBD complementation groups, see {214100}.

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Hypertelorism
  • Micrognathia
  • Muscular hypotonia


SOURCES: OMIM MENDELIAN

More info about PEROXISOME BIOGENESIS DISORDER 10A (ZELLWEGER); PBD10A

High match AUTOSOMAL RECESSIVE SPONDYLOMETAPHYSEAL DYSPLASIA, MÉGARBANÉ TYPE


Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type is a rare, primary bone dysplasia characterized by intrauterine growth retardation, pre- and postnatal disproportionate short stature with short, rhizomelic limbs, facial dysmorphism, a short neck and small thorax. Hypotonia, cardiomegaly and global developmetal delay have also been associated. Several radiographic findings have been reported, including ribs with cupped ends, platyspondyly, square iliac bones, horizontal and trident acetabula, hypoplastic ischia, and delayed epiphyseal ossification.

AUTOSOMAL RECESSIVE SPONDYLOMETAPHYSEAL DYSPLASIA, MÉGARBANÉ TYPE Is also known as chondrodysplasia, megarbane-dagher-melki type

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Growth delay
  • Low-set ears


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE SPONDYLOMETAPHYSEAL DYSPLASIA, MÉGARBANÉ TYPE

High match AUTOSOMAL SEMI-DOMINANT SEVERE LIPODYSTROPHIC LAMINOPATHY


Related symptoms:

  • Micrognathia
  • Hepatomegaly
  • Myopathy
  • Congestive heart failure
  • Splenomegaly


SOURCES: ORPHANET MENDELIAN

More info about AUTOSOMAL SEMI-DOMINANT SEVERE LIPODYSTROPHIC LAMINOPATHY

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Other less relevant matches:

High 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

High 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

High match BARTH SYNDROME


Barth syndrome (BTHS) is an inborn error of phospholipid metabolism characterized by dilated cardiomyopathy (DCM), skeletal myopathy, neutropenia, growth delay and organic aciduria.

BARTH SYNDROME Is also known as bths|3-methylglutaconic aciduria type 2|mgca2|x-linked cardioskeletal myopathy and neutropenia|cardioskeletal myopathy with neutropenia and abnormal mitochondria|mga2|mga, type ii|cardioskeletal myopathy-neutropenia syndrome|3-methylglutaconic aciduria, t

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about BARTH SYNDROME

High match FAMILIAL PARTIAL LIPODYSTROPHY, DUNNIGAN TYPE


Familial Partial lipodystrophy, Dunnigan type (FPLD2) is a rare form of genetic lipodystrophy (see this term) characterized by a loss of subcutaneous adipose tissue from the trunk, buttocks and limbs; fat accumulation in the neck, face, axillary and pelvic regions; muscular hypertrophy; and usually associated with metabolic complications such as insulin resistance, diabetes mellitus, dyslipidemia and liver steatosis.

FAMILIAL PARTIAL LIPODYSTROPHY, DUNNIGAN TYPE Is also known as fpl2|lipoatrophic diabetes|lipodystrophy, reverse partial|fpld2|familial partial lipodystrophy type 2|lipodystrophy, familial, of limbs and lower trunk|dunnigan syndrome|lipodystrophy, familial partial, dunnigan type

Related symptoms:

  • Short stature
  • Micrognathia
  • Cataract
  • Hypertension
  • Hepatomegaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about FAMILIAL PARTIAL LIPODYSTROPHY, DUNNIGAN TYPE

High match ALAGILLE SYNDROME 1; ALGS1


Alagille syndrome is an autosomal dominant disorder that traditionally has been defined by a paucity of intrahepatic bile ducts, in association with 5 main clinical abnormalities: cholestasis, cardiac disease, skeletal abnormalities, ocular abnormalities, and a characteristic facial phenotype (Li et al., 1997). Cholestasis is a direct consequence of the paucity of bile ducts. About 39% of patients also have renal involvement, mainly renal dysplasia (Kamath et al., 2012).Turnpenny and Ellard (2012) reviewed the clinical features, diagnosis, pathogenesis, and genetics of Alagille syndrome. Genetic Heterogeneity of Alagille SyndromeAnother form of Alagille syndrome (ALGS2 ) is caused by mutation in the NOTCH2 gene (OMIM ).

ALAGILLE SYNDROME 1; ALGS1 Is also known as algs|alagille-watson syndrome|alagille syndrome|hepatic ductular hypoplasia, syndromatic|arteriohepatic dysplasia|aws|cholestasis with peripheral pulmonary stenosis|ahd

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about ALAGILLE SYNDROME 1; ALGS1

Medium match ALSTRÖM SYNDROME


Alström syndrome (AS) is a multisystemic disorder characterized by cone-rod dystrophy, hearing loss, obesity, insulin resistance and hyperinsulinemia, type 2 diabetes mellitus, dilated cardiomyopathy (DCM; see this term), and progressive hepatic and renal dysfunction.

ALSTRÖM SYNDROME Is also known as alss

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about ALSTRÖM SYNDROME

Low match CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC 27; CMH27


CMH27 is a severe, early-onset cardiomyopathy with morphologic features of both dilated and hypertrophic disease, characterized by biventricular involvement and atypical distribution of hypertrophy. Heterozygotes are at increased risk of developing cardiomyopathy (Almomani et al., 2016).For a general phenotypic description and a discussion of genetic heterogeneity of hypertrophic cardiomyopathy, see CMH1 (OMIM ).An oligogenic form of hypertrophic cardiomyopathy, involving heterozygous mutations in the ALPK3, TTN (OMIM ), and MYL3 (OMIM ) genes has also been reported in 1 family.

Related symptoms:

  • Abnormal facial shape
  • Low-set ears
  • High palate
  • Cardiomyopathy
  • Edema


SOURCES: OMIM MENDELIAN

More info about CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC 27; CMH27

Top 5 symptoms//phenotypes associated to Congestive heart failure and Round face

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Hepatomegaly Common - Between 50% and 80% cases
Dilatation Common - Between 50% and 80% cases
Growth delay Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Hypertriglyceridemia Cardiomyopathy Hypertension Hypertrophic cardiomyopathy Broad forehead Cataract Cardiomegaly Micrognathia Hypertelorism Pectus excavatum Seizures Lipodystrophy Failure to thrive Right ventricular hypertrophy Decreased HDL cholesterol concentration Deeply set eye Generalized hirsutism Polycystic ovaries Ventricular arrhythmia Atherosclerosis Pancreatitis Acanthosis nigricans Insulin resistance Hepatic steatosis Specific learning disability Delayed puberty Dilated cardiomyopathy Myopathy Splenomegaly Delayed skeletal maturation Respiratory insufficiency Diabetes mellitus Hepatosplenomegaly Short neck Anteverted nares Myalgia Low-set ears Strabismus Downslanted palpebral fissures Pulmonic stenosis Talipes Generalized hypotonia

Rare Symptoms - Less than 30% cases


Protruding ear Short palm Pes planus Stroke Camptodactyly of finger Clinodactyly of the 5th finger Long philtrum Small hand Thickened skin Short foot Broad foot Upslanted palpebral fissure Osteopenia Macrotia Acidosis Arrhythmia Edema Full cheeks Respiratory distress Fatigue Motor delay Ventricular hypertrophy Talipes equinovarus Infertility Ophthalmoplegia Cirrhosis Jaundice Elevated hepatic transaminase Conductive hearing impairment Abnormality of the kidney Abnormality of the liver Scarring Retinopathy Stage 5 chronic kidney disease Hepatic failure Clinodactyly Vesicoureteral reflux Gastrointestinal hemorrhage Pigmentary retinopathy Hypercholesterolemia Portal hypertension Chorioretinal atrophy Depressivity Chronic hepatic failure Visual loss Renal insufficiency Hydrops fetalis Hyperlipidemia Spontaneous abortion Left ventricular noncompaction Endocardial fibroelastosis Abnormality of the skeletal system Obesity Abnormality of the dentition Hirsutism Epidermal acanthosis Hyperinsulinemia Abnormal facial shape Hyperglycemia Glomerulopathy Hyperuricemia Insulin-resistant diabetes mellitus Peripheral arterial stenosis Acute pancreatitis Left ventricular hypertrophy Intellectual disability Hearing impairment Behavioral abnormality Peripheral neuropathy Cognitive impairment Reduced subcutaneous adipose tissue Loss of subcutaneous adipose tissue in limbs Ventricular septal defect Advanced eruption of teeth Atrial septal defect Areflexia High forehead Prominent nose Xanthomatosis Osteolytic defects of the phalanges of the hand Secondary amenorrhea Aplasia/Hypoplasia of the skin Lipoatrophy Coronary artery atherosclerosis Epicanthus Skeletal muscle hypertrophy Depressed nasal bridge Frontal bossing Short nose Abnormality of the nail Thin skin Prominent forehead Postnatal growth retardation Squared iliac bones Narrow chest Limb undergrowth Pulmonary arterial hypertension Tachypnea Dysmenorrhea Short long bone Feeding difficulties Increased intraabdominal fat Increased facial adipose tissue Cryptorchidism Increased adipose tissue around the neck High palate Precocious puberty in females Cyanosis Progressive visual loss Decreased testicular size Otitis media Widely-spaced incisors Abnormal retinal artery morphology Growth hormone deficiency Rectourethral fistula Abdominal distention Urinary incontinence Asthma Reduced number of intrahepatic bile ducts EEG with occipital slowing Butterfly vertebral arch Ascites Sleep disturbance Scoliosis Ataxia Nystagmus Sensorineural hearing impairment Hepatitis Type II diabetes mellitus Optic disc pallor Gynecomastia Tricuspid regurgitation Increased body weight Granular macular appearance Horizontal nystagmus Thickened ears Dilatation of the bladder Recurrent pneumonia Unilateral breast hypoplasia Hypergonadotropic hypogonadism Intrahepatic biliary atresia Short toe Glue ear Abnormality of prothrombin Sinusitis Hyperpigmentation of the skin Hepatic fibrosis Recurrent cystitis Decreased liver function Abnormality of retinal pigmentation Anorexia Chronic diarrhea Unicoronal synostosis Recurrent urinary tract infections Involuntary movements Recurrent otitis media Pain Delayed speech and language development Abnormality of renal calyx morphology Weight loss Respiratory tract infection Irritability Proteinuria Photophobia Kyphoscoliosis Gastroesophageal reflux Patent ductus arteriosus Dyspnea Hypothyroidism Autism Hyperkeratosis Autistic behavior Respiratory failure Hyporeflexia Polydactyly Constipation Alopecia Abdominal pain Pneumonia Hypogonadism Hyperhidrosis Myoclonus Rod-cone dystrophy Pallor Sparse hair Recurrent respiratory infections Lymphadenopathy Nephropathy Localized hirsutism Vitreous haze Abnormality of the femoral head Visual impairment Optic atrophy Blindness Retinal dystrophy Tachycardia Nausea Vomiting Dystonia Nyctalopia Cardiac arrest Hypogonadotrophic hypogonadism Pterygium Dry skin Carious teeth Hypermetropia Hypotrichosis Generalized tonic-clonic seizures Cough Kyphosis Encephalopathy Retinal degeneration Abnormality of the hand Receptive language delay High-frequency hearing impairment Tubulointerstitial fibrosis Urethral obstruction Testicular atrophy Abnormal left ventricle morphology Abnormal renal physiology Disinhibition Abnormality of the pituitary gland Hypoplastic male external genitalia Retinal pigment epithelial atrophy Abnormal renal morphology Menstrual irregularities Ovarian cyst Restrictive cardiomyopathy Elevated C-reactive protein level Esophageal varix Chronic obstructive pulmonary disease Chronic fatigue Myocardial fibrosis Hepatic necrosis Male hypogonadism Oligospermia Myocarditis Tubular atrophy Recurrent bronchitis Acute hepatic failure Elevated serum creatinine Attenuation of retinal blood vessels Renovascular hypertension Arteriosclerosis Pendular nystagmus Frontal balding Abnormality of dental color Epigastric pain Abnormality of the urethra Abnormal chorioretinal morphology Chronic infection Urethral stricture Abnormal spermatogenesis Decreased glomerular filtration rate Impaired temperature sensation Abnormality of the optic disc First degree atrioventricular block Melena Hematemesis Female hypogonadism Urinary retention Abnormal muscle tone Increased total bilirubin Vertical nystagmus Bull's eye maculopathy Multinodular goiter Abnormality of female external genitalia Hepatic encephalopathy Urethral stenosis Achromatopsia Chills Albuminuria Pyelonephritis Poor fine motor coordination Tubulointerstitial nephritis Gingivitis Nephrocalcinosis Obsessive-compulsive behavior Hydroureter Pulmonary fibrosis Emphysema Nonproductive cough Polyuria Glucose intolerance Diabetes insipidus Hyperostosis Abnormal adipose tissue morphology Acne Impaired vibratory sensation Constriction of peripheral visual field Aplasia/Hypoplasia of the cerebellum Chronic otitis media Truncal obesity Nephritis Polydipsia Precocious puberty Elevated alkaline phosphatase Cholelithiasis Lumbar scoliosis Goiter Cone/cone-rod dystrophy Macular degeneration Accelerated skeletal maturation Absence seizures Chronic active hepatitis Hyperostosis frontalis interna Urinary urgency Abnormal retinal morphology Ketoacidosis Thoracic scoliosis Posterior subcapsular cataract Oligomenorrhea Renal artery stenosis Poor coordination Facial hirsutism Hyperventilation Alopecia of scalp Peripheral visual field loss Retinal atrophy ST segment depression Hypoventilation Severe sensorineural hearing impairment Autoimmune thrombocytopenia Multifocal atrial tachycardia Pericardial effusion Pericarditis Childhood-onset truncal obesity High-frequency sensorineural hearing impairment Subcapsular cataract Increased number of teeth Bronchitis Glycosuria Progressive sensorineural hearing impairment Agenesis of permanent teeth Increased circulating androgen level Exudative retinopathy Short finger Polyphagia Multiple small medullary renal cysts Carcinoma Vitamin D deficiency Aortic valve stenosis Ovoid vertebral bodies Dysostosis multiplex Tracheal stenosis High pitched voice Bilateral talipes equinovarus Toe walking Cone-shaped epiphysis Bicuspid aortic valve Aortic regurgitation Coxa valga Joint contracture of the hand Small nail Lack of skin elasticity Smooth philtrum Wide mouth Joint stiffness Thin upper lip vermilion Severe short stature Flexion contracture Abnormal vertebral segmentation and fusion Abnormality of the cervical spine High anterior hairline Genu recurvatum External ear malformation Megalocornea Mitral stenosis Thickened helices Broad palm Proximal muscle weakness Hyperammonemia Recurrent bacterial infections Exercise intolerance Eczema Aciduria Sudden cardiac death Sepsis Neutropenia Lactic acidosis Lethargy Feeding difficulties in infancy Facial palsy Hypoglycemia Hypoplasia of the capital femoral epiphysis Mandibular prognathia Abnormal heart morphology Recurrent infections Diarrhea Gait disturbance Muscle weakness Short metacarpals with rounded proximal ends Irregular capital femoral epiphysis Tricuspid stenosis J-shaped sella turcica Tip-toe gait Wrist flexion contracture Shawl scrotum Hyperextensible skin Abnormality of mitochondrial metabolism Wide nose Severe platyspondyly Hypoplastic ischia Metaphyseal cupping Spondylometaphyseal dysplasia Delayed epiphyseal ossification Bell-shaped thorax Hypokinesia Deep philtrum Wormian bones Short ribs Wide anterior fontanel Large fontanelles Micromelia Iliac crest serration Platyspondyly Small for gestational age Microtia Muscular hypotonia of the trunk Generalized neonatal hypotonia Right aortic arch Perimembranous ventricular septal defect Secundum atrial septal defect Epiphyseal stippling Decreased fetal movement Severe global developmental delay Muscular hypotonia Dysplastic sacrum Premature graying of hair Hypoplasia of the maxilla Wide nasal bridge Delayed eruption of teeth Single transverse palmar crease Everted lower lip vermilion Oral cleft Cleft upper lip Joint hyperflexibility Finger syndactyly Attention deficit hyperactivity disorder Low-set, posteriorly rotated ears Umbilical hernia Inguinal hernia Abnormality of cardiovascular system morphology Ptosis Progeroid facial appearance Cleft palate Proximal upper limb muscle hypertrophy Muscle hypertrophy of the lower extremities Decreased adiponectin level Acroosteolysis of distal phalanges (feet) Minimal subcutaneous fat Accelerated atherosclerosis Decreased serum leptin Narrow nasal ridge Abnormal atrioventricular conduction Supraventricular arrhythmia Precocious atherosclerosis Easy fatigability Myopathic facies Axenfeld anomaly Abnormal form of the vertebral bodies Glomerulosclerosis Renal hypoplasia/aplasia Corneal dystrophy Spina bifida occulta Finger clinodactyly Multicystic kidney dysplasia Hemivertebrae Pointed chin Abnormal vertebral morphology Lymphedema Exotropia Renal dysplasia Cholestasis Hypoplasia of the ulna Renal hypoplasia Nephrotic syndrome Coarctation of aorta Abnormality of the ribs Tetralogy of Fallot Triangular face Hypodontia Microcornea Hypopigmentation of the skin Short distal phalanx of finger Flat face Abnormality of skin pigmentation Heart murmur Malnutrition Malabsorption Intrahepatic cholestasis Papillary thyroid carcinoma Band keratopathy Biliary atresia Abnormal anterior chamber morphology Butterfly vertebrae Arterial stenosis Hypopigmentation of the fundus Fat malabsorption Peripheral pulmonary artery stenosis Abnormal pupil morphology Thyroid carcinoma Cholestatic liver disease Coronal craniosynostosis Vertebral segmentation defect Pulmonary artery stenosis Abnormality of the vasculature Dilatation of the cerebral artery Hepatocellular carcinoma Exocrine pancreatic insufficiency Posterior embryotoxon Abnormality of the ureter Renal tubular acidosis Keratoconus Telangiectasia of the skin Prolonged neonatal jaundice Long nose Anal atresia Pruritus Poor appetite Pyoderma Myocardial infarction Thin vermilion border Papule Skeletal muscle atrophy Intermittent lactic acidemia Recurrent infections in infancy and early childhood Increased mitochondrial number Cyclic neutropenia Agranulocytosis Abnormal mitochondrial shape Abnormal mitochondrial morphology Monocytosis Prolonged QTc interval Cellulitis Abnormal endocardium morphology Granulocytopenia Abnormality of neutrophils 3-Methylglutaconic aciduria Hypocholesterolemia Abnormality of the mitochondrion Skeletal myopathy Left ventricular failure Recurrent aphthous stomatitis Decreased plasma carnitine Organic aciduria Mitochondrial myopathy Cranial nerve paralysis Short clavicles Short philtrum Sunken cheeks Craniosynostosis Coarse facial features Brachycephaly Intellectual disability, mild Intrauterine growth retardation Myopia Neoplasm Increased intramuscular fat Labial pseudohypertrophy Myelin tomacula Enlarged peripheral nerve Loss of truncal subcutaneous adipose tissue Abnormality of complement system Abnormality of lipid metabolism Adipose tissue loss Osteopoikilosis Abnormality of skeletal muscle fiber size Eclampsia Congenital generalized lipodystrophy Absence of subcutaneous fat Generalized lipodystrophy Abnormality of the menstrual cycle Hyperlipoproteinemia Angina pectoris Prominent superficial veins Maternal diabetes Multiple pterygia



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Frontal bossing and Febrile seizures, related diseases and genetic alterations Intellectual disability, severe and Camptodactyly, related diseases and genetic alterations

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