Congestive heart failure, and Posteriorly rotated ears

Diseases related with Congestive heart failure and Posteriorly rotated ears

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


Top matches:

Medium match URUGUAY FACIOCARDIOMUSCULOSKELETAL SYNDROME; FCMSU


URUGUAY FACIOCARDIOMUSCULOSKELETAL SYNDROME; FCMSU Is also known as faciocardiomusculoskeletal syndrome, uruguay type|fcms

Related symptoms:

  • Scoliosis
  • Low-set ears
  • Downslanted palpebral fissures
  • Cardiomyopathy
  • Congestive heart failure


SOURCES: OMIM MESH MENDELIAN

More info about URUGUAY FACIOCARDIOMUSCULOSKELETAL SYNDROME; FCMSU

Medium match AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY DISEASE


Autosomal recessive polycystic kidney disease (ARPKD) is an inherited disorder characterised by the development of cysts affecting the collecting ducts. It is frequently associated with hepatic involvement.

AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY DISEASE Is also known as polycystic kidney and hepatic disease 1|polycystic kidney disease, infantile, type i|pkhd1|arpkd|ar-pkd|polycystic kidney disease, autosomal recessive|polycystic kidney disease 4 with or without hepatic disease|pkd3, formerly

Related symptoms:

  • Micrognathia
  • Hypertension
  • Hepatomegaly
  • Ventricular septal defect
  • Respiratory insufficiency


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY DISEASE

Medium match FAMILIAL MITRAL VALVE PROLAPSE


Mitral valve prolapse (MVP) has a prevalence of approximately 2 to 3% in the general population. It is characterized by fibromyxomatous changes in mitral leaflet tissue, with upward displacement of 1 or both leaflets into the left atrium during systole; MVP is diagnosed when the movement of the mitral leaflets exceeds 2 mm. In classic MVP, leaflets are at least 5 mm thick, whereas in nonclassic MVP, they are less than 5 mm thick. Auscultatory findings, when present, consist of a midsystolic click and/or a late systolic murmur. The natural history of MVP varies from benign, with a normal life expectancy, to severe complications associated with the development of significant mitral regurgitation, including congestive heart failure, bacterial endocarditis, atrial fibrillation, thromboembolism, and even sudden death. However, complications are uncommon, affecting less than 3% of individuals with MVP (Freed et al., 1999; Grau et al., 2007; Delling and Vasan, 2014).Grau et al. (2007) provided a detailed review of the genetics of mitral valve prolapse. Delling and Vasan (2014) reviewed the epidemiology and pathophysiology of MVP, with discussion of disease progression, genetics, and molecular basis. Genetic Heterogeneity of Familial Mitral Valve ProlapseSeveral loci for mitral valve prolapse (MVP) have been been mapped: MVP1 to chromosome 16p; MVP2 (OMIM ) to chromosome 11p; and MVP3 (OMIM ) to chromosome 13q.

FAMILIAL MITRAL VALVE PROLAPSE Is also known as myxomatous mitral valve prolapse 1|barlow syndrome|pmv|mmvp1|floppy mitral valve|myxomatous valvular disease, familial|mitral regurgitation, familial|mvp prolapsed mitral valve|mitral valve prolapse, myxomatous 1|click-murmur syndrome|mitral valve prolaps

Related symptoms:

  • Intellectual disability
  • Short stature
  • Growth delay
  • Micrognathia
  • Pain


SOURCES: OMIM ORPHANET MENDELIAN

More info about FAMILIAL MITRAL VALVE PROLAPSE

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Other less relevant matches:

Medium match AUTOSOMAL RECESSIVE SPONDYLOCOSTAL DYSOSTOSIS


Autosomal recessive spondylocostal dysostosis (ARSD) is a rare condition of variable severity associated with vertebral and rib segmentation defects and characterised by a short neck with limited mobility, winged scapulae, a short trunk, and short stature with multiple vertebral anomalies at all levels of the spine.

AUTOSOMAL RECESSIVE SPONDYLOCOSTAL DYSOSTOSIS Is also known as vertebral anomalies|jarcho-levin syndrome|spondylothoracic dysplasia|spondylothoracic dysostosis|costovertebral dysplasia

Related symptoms:

  • Intellectual disability
  • Short stature
  • Microcephaly
  • Scoliosis
  • Cleft palate


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE SPONDYLOCOSTAL DYSOSTOSIS

Medium 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

Medium match MULTIPLE BENIGN CIRCUMFERENTIAL SKIN CREASES ON LIMBS


Congenital symmetric circumferential skin creases is characterized by the folding of excess skin, which leads to ringed creases, primarily of the limbs. Affected individuals also exhibit intellectual disability, cleft palate, and dysmorphic features (summary by Isrie et al., 2015). Genetic Heterogeneity of Congenital Symmetric Circumferential Skin CreasesCSCSC2 (OMIM ) is caused by mutation in the MAPRE2 gene (OMIM ) on chromosome 18q12.

MULTIPLE BENIGN CIRCUMFERENTIAL SKIN CREASES ON LIMBS Is also known as congenital circumferential skin folds|skin creases, multiple benign ring-shaped, of limbs|kunze-riehm syndrome|ccsf|circumferential skin creases, kunze type|michelin tire baby syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MULTIPLE BENIGN CIRCUMFERENTIAL SKIN CREASES ON LIMBS

Medium match CARNITINE PALMITOYL TRANSFERASE II DEFICIENCY, NEONATAL FORM


The neonatal form of carnitine palmitoyltransferase II (CPT II) deficiency (see this term), an inherited disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the lethal form of the disease which presents with multisystem failure.

CARNITINE PALMITOYL TRANSFERASE II DEFICIENCY, NEONATAL FORM Is also known as carnitine palmitoyl transferase deficiency type 2, lethal systemic form|carnitine palmitoyltransferase ii deficiency, neonatal|cpt2 deficiency, lethal neonatal|carnitine palmitoyl transferase ii deficiency, lethal systemic form|carnitine palmitoyltransfer

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Microcephaly
  • Muscular hypotonia
  • Cataract


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about CARNITINE PALMITOYL TRANSFERASE II DEFICIENCY, NEONATAL FORM

Medium match LEOPARD SYNDROME 1; LPRD1


LEOPARD is an acronym for the manifestations of this syndrome as listed by Gorlin et al. (1969): multiple lentigines, electrocardiographic conduction abnormalities, ocular hypertelorism, pulmonic stenosis, abnormal genitalia, retardation of growth, and sensorineural deafness. Genetic Heterogeneity of LEOPARD SyndromeLEOPARD syndrome is a genetically heterogeneous disorder. See also LEOPARD syndrome-2 (OMIM ), caused by mutation in the RAF1 gene (OMIM ), and LEOPARD syndrome-3 (OMIM ), caused by mutation in the BRAF gene (OMIM ).

LEOPARD SYNDROME 1; LPRD1 Is also known as multiple lentigines syndrome|lentiginosis, cardiomyopathic

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about LEOPARD SYNDROME 1; LPRD1

Medium 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

Medium match PROXIMAL 16P11.2 MICRODELETION SYNDROME


The proximal 16p11.2 microdeletion syndrome is a chromosomal anomaly characterized by developmental and language delays, mild intellectual disability, social impairments (autism spectrum disorders), mild variable dysmorphism and predisposition to obesity.

PROXIMAL 16P11.2 MICRODELETION SYNDROME Is also known as proximal del(16)(p11.2)|proximal monosomy 16p11.2

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Scoliosis


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about PROXIMAL 16P11.2 MICRODELETION SYNDROME

Top 5 symptoms//phenotypes associated to Congestive heart failure and Posteriorly rotated ears

Symptoms // Phenotype % cases
Scoliosis Common - Between 50% and 80% cases
Cleft palate Common - Between 50% and 80% cases
Cryptorchidism Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Low-set ears

Uncommon Symptoms - Between 30% and 50% cases


Micrognathia Short neck Seizures Respiratory insufficiency Low-set, posteriorly rotated ears Abnormality of cardiovascular system morphology Hypertelorism Global developmental delay Microcephaly Inguinal hernia Pectus excavatum Long philtrum High palate Cardiomyopathy Atrial septal defect Broad forehead Dilatation Hypospadias Hypertrophic cardiomyopathy Polydactyly Epicanthus Respiratory failure Intellectual disability, mild Umbilical hernia Ptosis Generalized hypotonia Strabismus Wide nasal bridge Delayed speech and language development Hernia Hypertension Mitral regurgitation Wide intermamillary distance Anteverted nares Overfolded helix Small hand Kyphosis Growth delay Ventriculomegaly

Rare Symptoms - Less than 30% cases


Chest pain Aortic regurgitation Spina bifida occulta Scapular winging Hemivertebrae Congenital diaphragmatic hernia Camptodactyly of finger Microretrognathia Finger syndactyly Smooth philtrum Narrow palpebral fissure Depressed nasal bridge Intrauterine growth retardation Kyphoscoliosis Macrocephaly Missing ribs Deeply set eye Cognitive impairment Overlapping toe Aortic valve stenosis Micropenis Abnormality of the skeletal system Heart block Tapered finger Bulbous nose Neonatal hypotonia Agenesis of corpus callosum Arrhythmia Fatigue Feeding difficulties Cataract Muscular hypotonia Long fingers Dandy-Walker malformation Behavioral abnormality Motor delay Attention deficit hyperactivity disorder Talipes Single transverse palmar crease External ear malformation Unilateral renal agenesis Hearing impairment Hypoplasia of the corpus callosum Flat face Microphthalmia Abnormal heart morphology Hyperactivity Abnormality of the pinna Blepharophimosis Midface retrusion Long face High forehead Pulmonic stenosis Renal cyst Oligohydramnios Elevated serum creatine phosphokinase Multiple renal cysts Hepatomegaly Ventricular septal defect Respiratory distress Renal insufficiency Macrotia Pain Upslanted palpebral fissure Enlarged kidney Polycystic kidney dysplasia Downslanted palpebral fissures Wide nose Depressed nasal ridge Limited elbow movement Broad palm Everted lower lip vermilion Abnormality of the genital system Depressivity Alopecia Sensorineural hearing impairment Ventricular hypertrophy Cubitus valgus Bilateral cryptorchidism Neoplasm Long-chain dicarboxylic aciduria Bundle branch block Severe hearing impairment Hyperkeratosis Mandibular prognathia Prominent nose Myocardial infarction Conductive hearing impairment Pterygium Mutism Protruding ear Pectus carinatum Elevated serum long-chain fatty acids Triangular face Syncope Webbed neck Overgrowth Cafe-au-lait spot Delayed puberty Tapered toe Decreased plasma total carnitine Aciduria Hyperammonemia Narrow palate Knee flexion contracture Multicystic kidney dysplasia Elbow flexion contracture Renal dysplasia Cardiomegaly Sloping forehead Coma Hypoplastic toenails Metabolic acidosis Congenital hip dislocation Hepatic steatosis Prominent supraorbital ridges Polymicrogyria Hepatic failure Abnormality of the foot Lethargy Ventricular arrhythmia Cerebral hemorrhage Antenatal intracerebral hemorrhage Increased total bilirubin Intracerebral periventricular calcifications Decreased plasma free carnitine Hepatic calcification Basal ganglia cysts Elevated long chain fatty acids Increased muscle lipid content Nonketotic hypoglycemia Macrovesicular hepatic steatosis Dicarboxylic aciduria Hyperkalemia Biventricular hypertrophy Abnormality of nervous system morphology Long toe Ureteral duplication Cystic renal dysplasia Hypoketotic hypoglycemia Hypothermia Joint contracture of the hand Multiple cafe-au-lait spots Abnormal aortic valve morphology Synophrys Recurrent infections Coloboma Wide mouth Autistic behavior EEG abnormality Gastroesophageal reflux Autism Obesity Immunodeficiency Renal agenesis Malar flattening Short nose Myopia Olivopontocerebellar hypoplasia Hypoplastic aortic arch Spotty hypopigmentation Long neck Otosclerosis Underdeveloped nasal alae Psychosis Narrow nose Severe combined immunodeficiency Widely-spaced maxillary central incisors Chorioretinitis Pulmonary artery atresia Optic nerve coloboma Hydrocele testis Severe intrauterine growth retardation Arnold-Chiari type I malformation Syringomyelia Short toe Long nose Combined immunodeficiency Anophthalmia Language impairment Hand polydactyly Bilateral ptosis Pyloric stenosis Pointed chin Overlapping fingers Epiphyseal stippling Angina pectoris Numerous nevi Syndactyly Hypertonia Hydrocephalus Brachydactyly Failure to thrive Aplasia of the ovary Coronary artery aneurysm Hypoplasia of the ovary Difficulty walking Third degree atrioventricular block Delayed menarche Parietal bossing Multiple lentigines Subvalvular aortic stenosis Feeding difficulties in infancy Abnormal mitral valve morphology Hyposmia Hip dislocation Cerebral cortical atrophy Broad hallux Thick vermilion border Ectopic kidney 2-3 toe syndactyly Self-injurious behavior Sacral dimple Narrow forehead Esotropia Hypopigmentation of the skin Ichthyosis Polyhydramnios Pes cavus Toe syndactyly Prominent nasal bridge Abnormal cardiac septum morphology Muscular hypotonia of the trunk Aggressive behavior Retrognathia Skeletal dysplasia Dilated cardiomyopathy Skeletal muscle hypertrophy Apnea Atelectasis Abnormality of immune system physiology Vertebral segmentation defect Prominent occiput Short thorax Preaxial polydactyly Abnormality of the urinary system Chronic lung disease Spina bifida Double outlet right ventricle Abnormal vertebral morphology Abnormal form of the vertebral bodies Abnormality of the ribs Esophageal varix Confusion Cholangitis Congenital hepatic fibrosis Abnormality of the ureter Meningocele Hyperlordosis Rib segmentation abnormalities Clinodactyly of the 5th finger Abnormal lung morphology Abnormality of the dentition Hepatic fibrosis Renal hypoplasia/aplasia Chronic kidney disease Portal hypertension Abnormality of the odontoid process Disproportionate short-trunk short stature Block vertebrae Cervical C2/C3 vertebral fusion Abnormality of the intervertebral disk Urogenital fistula Abnormality of female internal genitalia Anomalous pulmonary venous return Rib fusion Respiratory tract infection Pancreatic cysts Cholestasis Atrial fibrillation Supraventricular tachycardia Thromboembolism Striae distensae Abnormal heart valve morphology Disproportionate tall stature Thin upper lip vermilion Dental crowding Mitral valve prolapse Tricuspid valve prolapse Abnormality of the cardiovascular system Limb undergrowth Convex nasal ridge Joint laxity Intellectual disability, moderate High, narrow palate Tachycardia Endocarditis Asthenia Hepatic cysts Potter facies Tubulointerstitial fibrosis Severe short stature Recurrent respiratory infections Biliary tract abnormality Portal fibrosis Hypersplenism Hematemesis Periportal fibrosis Mastoiditis Hypoplasia of the ear cartilage Azotemia Absence of renal corticomedullary differentiation Dyspnea Reversed usual vertebral column curves Quadricuspid aortic valve Bacterial endocarditis Pes planus Joint hyperflexibility Hydronephrosis Progressive pes cavus Irregular hyperpigmentation Hypoplastic nipples Neuroblastoma Hamartoma Cerebellar vermis atrophy Abnormality of the musculature Camptodactyly of toe Tricuspid regurgitation Periorbital fullness Broad nail Optic nerve hypoplasia Scrotal hypoplasia Cutis laxa Generalized hirsutism Thickened skin Hypoplasia of dental enamel Lower limb asymmetry Broad eyebrow Hypertrichosis Eclabion Abnormality of the voice Elevated hepatic transaminase Hypoglycemia Acidosis Prominent forehead Short philtrum Hallux valgus Hyperreflexia Median cleft palate Flexion contracture Brachyturricephaly Hyperplasia of the maxilla Localized neuroblastoma Increased number of skin folds Abnormality of the scrotum Upper limb asymmetry Abnormality of the face Short palpebral fissure Cleft upper lip Megalocornea Pulmonary hypoplasia Abnormal vertebral segmentation and fusion Abnormality of the cervical spine High anterior hairline Genu recurvatum Broad foot Dehydration Shawl scrotum Scarring Hyperextensible skin Round face Hypoplasia of the maxilla Delayed eruption of teeth Short foot Short palm Oral cleft Stage 5 chronic kidney disease Abnormal facial shape Marked muscular hypertrophy Severe global developmental delay Febrile seizures Pugilistic facies Abnormality of the skin Nevus Full cheeks Microcornea Dislocation of toes Microtia Abnormality of the liver Retinopathy Telecanthus Narrow mouth Brachycephaly Splenomegaly Edema Hepatosplenomegaly Abnormality of the kidney Absent nasal bridge



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