Congestive heart failure, and Hernia

Diseases related with Congestive heart failure and Hernia

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

Top matches:

Juvenile polyposis syndrome is an autosomal dominant condition that predisposes gene carriers to various types of tumors. The diagnosis is based on the occurrence of hamartomatous gastrointestinal polyps that turn into malignant lesions in approximately 20% of cases (Handra-Luca et al., 2005).It had been suggested that juvenile polyposis can be caused by mutations in the PTEN gene (OMIM ), the same gene that is mutant in Cowden syndrome-1 (OMIM ). In a comprehensive review of PTEN, Waite and Eng (2002) concluded that juvenile intestinal polyposis is not a so-called PTEN hamartoma-tumor syndrome (PHTS). They suggested that the discovery of the germline PTEN mutation in an individual considered to have JPS should raise a suspicion that the clinical diagnosis is incorrect and that such an individual should be managed medically in the same manner as all patients with PHTS.

JUVENILE POLYPOSIS SYNDROME; JPS Is also known as polyposis, juvenile intestinal|pji|jip|juvenile intestinal polyposis|polyposis, familial, of entire gastrointestinal tract

Related symptoms:

  • Seizures
  • Neoplasm
  • Failure to thrive
  • Pain
  • Cryptorchidism


SOURCES: OMIM MENDELIAN

More info about JUVENILE POLYPOSIS SYNDROME; JPS

Autosomal recessive cutis laxa type IID (ARCL2D) is characterized by generalized skin wrinkling with sparse subcutaneous fat and dysmorphic progeroid facial features. Most patients also exhibit severe hypotonia as well as cardiovascular and neurologic involvement (summary by Van Damme et al., 2017).For a general phenotypic description and a discussion of genetic heterogeneity of autosomal recessive cutis laxa, see ARCL1A (OMIM ).

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Microcephaly
  • Hypertelorism
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID; ARCL2D

Adams-Oliver syndrome (AOS) is a rare developmental disorder defined by the combination of aplasia cutis congenita of the scalp vertex and terminal transverse limb defects (e.g., amputations, syndactyly, brachydactyly, or oligodactyly). In addition, vascular anomalies such as cutis marmorata telangiectatica congenita, pulmonary hypertension, portal hypertension, and retinal hypervascularization are recurrently seen. Congenital heart defects have been estimated to be present in 20% of AOS patients; reported malformations include ventricular septal defects, anomalies of the great arteries and their valves, and tetralogy of Fallot (summary by Stittrich et al., 2014).For a discussion of genetic heterogeneity of Adams-Oliver syndrome, see AOS1 (OMIM ).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Muscle weakness
  • Motor delay


SOURCES: OMIM MENDELIAN

More info about ADAMS-OLIVER SYNDROME 5; AOS5

Other less relevant matches:

Congenital generalized lipodystrophy (CGL), or Berardinelli-Seip syndrome, is a rare autosomal recessive disease characterized by a near absence of adipose tissue from birth or early infancy and severe insulin resistance. Other clinical and biologic features include acanthosis nigricans, muscular hypertrophy, hepatomegaly, altered glucose tolerance or diabetes mellitus, and hypertriglyceridemia (Garg, 2004). Genetic Heterogeneity of Congenital Generalized LipodystrophyCongenital generalized lipodystrophy type 2 (OMIM ) is caused by mutation in the BSCL2 gene (OMIM ). Congenital generalized lipodystrophy type 3 (OMIM ) is caused by mutation in the CAV1 gene (OMIM ). Congenital generalized lipodystrophy type 4 (OMIM ) is caused by mutation in the PTRF gene (OMIM ).

LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1; CGL1 Is also known as berardinelli-seip congenital lipodystrophy, type 1|lipodystrophy, berardinelli-seip congenital, type 1|brunzell syndrome, agpat2-related|bscl1

Related symptoms:

  • Intellectual disability
  • Cognitive impairment
  • Hypertension
  • Peripheral neuropathy
  • Hepatomegaly


SOURCES: OMIM MENDELIAN

More info about LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1; CGL1

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

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

Sialic acid storage diseases are autosomal recessive neurodegenerative disorders that may present as a severe infantile form (ISSD) or as a slowly progressive adult form that is prevalent in Finland (Salla disease). The main symptoms are hypotonia, cerebellar ataxia, and mental retardation; visceromegaly and coarse features are also present in the infantile cases. Progressive cerebellar atrophy and dysmyelination have been documented by MRI. Enlarged lysosomes are seen on electron microscopic studies, and patients excrete large amounts of free sialic acid in the urine (Verheijen et al., 1999).

INFANTILE SIALIC ACID STORAGE DISEASE; ISSD Is also known as nsd|sialuria, infantile form|n-acetylneuraminic acid storage disease|nana storage disease

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about INFANTILE SIALIC ACID STORAGE DISEASE; ISSD

Spondyloepiphyseal dysplasia congenita is an autosomal dominant chondrodysplasia characterized by disproportionate short stature (short trunk), abnormal epiphyses, and flattened vertebral bodies. Skeletal features are manifested at birth and evolve with time. Other features include myopia and/or retinal degeneration with retinal detachment and cleft palate (summary by Anderson et al., 1990).

SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA; SEDC Is also known as sed congenita|spondyloepiphyseal dysplasia, congenital type

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA; SEDC

Autosomal recessive cutis laxa, type 1 (ARCL1) is a generalized connective tissue disorder characterized by the association of wrinkled, redundant and sagging inelastic skin with severe systemic manifestations (lung atelectesias and emphysema, vascular anomalies, and gastrointestinal and genitourinary tract diverticuli).

AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 1 Is also known as arcl1|autosomal recessive cutis laxa with severe systemic involvement|cutis laxa, autosomal recessive|autosomal recessive cutis laxa, pulmonary emphysema type

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Sensorineural hearing impairment


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 1

Arterial tortuosity syndrome (ATS) is a rare connective tissue disorder characterized by tortuosity and elongation of the large and medium-sized arteries and a propensity towards aneurysm formation, vascular dissection, and stenosis of the pulmonary arteries.

ARTERIAL TORTUOSITY SYNDROME Is also known as ats

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Scoliosis
  • Hypertelorism
  • Strabismus


SOURCES: ORPHANET MENDELIAN

More info about ARTERIAL TORTUOSITY SYNDROME

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

Symptoms // Phenotype % cases
Inguinal hernia Common - Between 50% and 80% cases
Umbilical hernia Common - Between 50% and 80% cases
Hypertension Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Cryptorchidism Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Hypertelorism Dilatation Seizures Short stature Respiratory distress Global developmental delay Splenomegaly Macrotia Joint hyperflexibility Hypertrophic cardiomyopathy Scoliosis Cleft palate Anteverted nares Strabismus Microcephaly Generalized hypotonia Short neck Broad forehead Ptosis Respiratory tract infection Hip dislocation Failure to thrive Muscular hypotonia Macrocephaly

Rare Symptoms - Less than 30% cases

Redundant skin Coxa vara Progressive sensorineural hearing impairment Autoimmunity Hepatosplenomegaly Arachnodactyly Hepatomegaly Cognitive impairment Hyperextensible skin Hip dysplasia Malar flattening Pulmonic stenosis Severe global developmental delay Aortic aneurysm Attention deficit hyperactivity disorder Prematurely aged appearance Muscle weakness Pulmonary artery stenosis Arterial stenosis Ascites Myopia Clinodactyly of the 5th finger Hyperlordosis Pectus excavatum Epicanthus Shawl scrotum Short thorax Abnormal form of the vertebral bodies Congenital diaphragmatic hernia Finger syndactyly Nystagmus Triangular face Low-set, posteriorly rotated ears Sensorineural hearing impairment Respiratory failure Polydactyly Severe short stature Recurrent respiratory infections Hypospadias Abnormality of cardiovascular system morphology Long philtrum Kyphosis Hearing impairment Cutis laxa Camptodactyly of finger Fatigue Blepharophimosis Cardiomyopathy Talipes equinovarus Wide nasal bridge Portal hypertension Pain Atrial septal defect Stroke Cataract Ventricular septal defect Motor delay Anemia Dyspnea Downslanted palpebral fissures Carcinoma Pectus carinatum Glaucoma Apnea Arthritis Skeletal dysplasia Midface retrusion Gait disturbance Cough Vertigo Growth delay Platyspondyly Genu valgum Narrow chest Lumbar hyperlordosis Growth abnormality Sleep apnea Jaundice Rhizomelia Abnormality of epiphysis morphology Abnormality of the metaphysis Abnormal lung morphology Osteoarthritis High myopia Fetal ascites Limb undergrowth Waddling gait Limitation of joint mobility Retinal detachment Pulmonary hypoplasia Flat face Retinal degeneration Paresthesia Micromelia Chest pain Polymicrogyria J-shaped sella turcica Genu recurvatum Abnormality of the skeletal system High palate Gastrointestinal hemorrhage Cyanosis Ataxia Abnormal vertebral segmentation and fusion Abnormality of the cervical spine High anterior hairline Broad foot Edema External ear malformation Megalocornea Epistaxis Broad palm Telangiectasia Round face Hypoplasia of the maxilla Delayed eruption of teeth Single transverse palmar crease Hydrocephalus Cerebellar atrophy Vacuolated lymphocytes Aspiration Visceromegaly Back pain Conjugated hyperbilirubinemia Dysostosis multiplex Fair hair Esophageal atresia Metaphyseal irregularity Abnormality of the thorax Hydrops fetalis Cerebral atrophy Gingival overgrowth Cardiomegaly Nephrotic syndrome Premature birth Hypopigmentation of the skin Abnormality of the foot Corneal opacity Coarse facial features Osteopenia Genu varum Hypoplasia of the odontoid process Spondyloepiphyseal dysplasia Bowel diverticulosis Specific learning disability Long face Dilated cardiomyopathy Craniosynostosis Gastroesophageal reflux Short nose Renal diverticulum Arterial fibromuscular dysplasia Myocardial infarction Supravalvular aortic stenosis Congenital hemolytic anemia Vascular tortuosity Dermal translucency Ascending tubular aorta aneurysm Ileus Bladder diverticulum Cor pulmonale Short palpebral fissure Thin skin Premature skin wrinkling Esophagitis Abnormal carotid artery morphology Keratoglobus Long palm Median cleft lip and palate Femoral hernia Avascular necrosis of the capital femoral epiphysis Abnormal myocardium morphology Myocarditis Aortic dissection Cardiac arrest Cardiorespiratory arrest Hiatus hernia Aortic root aneurysm Keratoconus Telangiectasia of the skin Rocker bottom foot Pyloric stenosis Coxa valga Atelectasis Delayed cranial suture closure Bowing of the legs Flattened epiphysis Limitation of knee mobility Neonatal short-trunk short stature Sciatica Delayed pubic bone ossification Retinoschisis Limited hip movement Cervical myelopathy Limited elbow movement Abnormal facial shape Myelopathy Ovoid vertebral bodies Barrel-shaped chest Vitreoretinopathy Everted lower lip vermilion Disproportionate short stature Restrictive ventilatory defect Vestibular dysfunction Delayed calcaneal ossification Arrhythmia Emphysema Oligohydramnios Epiphyseal dysplasia Diarrhea Headache Shock Wormian bones Abnormality of the face Recurrent urinary tract infections Bilateral sensorineural hearing impairment Overgrowth Osteoporosis Vesicoureteral reflux Full cheeks Recurrent fractures Hemolytic anemia Abdominal pain Joint laxity Arthralgia Hypothyroidism Short foot Diplopia Small hand Aplasia cutis congenita of scalp Calcinosis cutis Chronic hepatic failure Cutis marmorata telangiectatica congenita Prominent scalp veins Portal vein thrombosis Hypersplenism Cavernous hemangioma Right ventricular failure Peripheral neuropathy Esophageal varix Prominent superficial veins Calcinosis Dystrophic toenail Right ventricular hypertrophy Progressive proximal muscle weakness Oligodactyly Aplasia cutis congenita Right atrial enlargement Intellectual disability, mild Abnormality of the coagulation cascade Hypertriglyceridemia Hyperlipidemia Acanthosis nigricans Accelerated skeletal maturation Insulin resistance Nephrolithiasis Tall stature Abnormality of the genital system Hypertrichosis Epidermal acanthosis Hyperhidrosis Nephropathy Hepatic steatosis Hirsutism Cirrhosis Delayed speech and language development Elevated hepatic transaminase Mandibular prognathia Diabetes mellitus Spastic diplegia Cutis marmorata Hyperinsulinemia Right bundle branch block Protruding ear Narrow naris Wide nasal base Cavum septum pellucidum Entropion Disproportionate tall stature Bundle branch block Mask-like facies Retrognathia Focal impaired awareness seizure Narrow palpebral fissure Pointed chin Sloping forehead Convex nasal ridge Focal-onset seizure Gliosis Sepsis Camptodactyly Brachydactyly Patent foramen ovale Hepatic failure Ischemic stroke Hyperammonemia Small nail Ventricular hypertrophy Pulmonary arterial hypertension Coarctation of aorta Ventriculomegaly Hypoplasia of the corpus callosum Abnormality of the cerebral white matter Myopathy Pneumonia Abnormal cardiac septum morphology Proximal muscle weakness Hyperactivity Abnormal heart morphology Encephalopathy Syndactyly Micropenis Polycystic ovaries Lipodystrophy Short palm Spina bifida occulta Abnormality of the ureter Abnormality of immune system physiology Vertebral segmentation defect Prominent occiput Colon cancer Preaxial polydactyly Abnormality of the urinary system Scapular winging Meningocele Hemivertebrae Spina bifida Abnormal vertebral morphology Hamartoma Abnormality of the ribs Polycythemia Confusion Hemoptysis Double outlet right ventricle Disproportionate short-trunk short stature Neoplasm Abnormality of the dentition Oral cleft Cleft upper lip Talipes Bulbous nose Pes planus Hypokalemia Hypoalbuminemia Behavioral abnormality Clubbing Rib fusion Rib segmentation abnormalities Abnormality of the odontoid process Block vertebrae Cervical C2/C3 vertebral fusion Abnormality of the intervertebral disk Urogenital fistula Abnormality of female internal genitalia Anomalous pulmonary venous return Hematochezia Clubbing of fingers Clitoral hypertrophy Angina pectoris Decreased serum leptin Congenital generalized lipodystrophy Decreased fertility in females Generalized lipodystrophy Acute pancreatitis Glioma Bone cyst Abnormality of the ovary Long foot Insulin-resistant diabetes mellitus at puberty Oligomenorrhea Abnormality of lipid metabolism Insulin-resistant diabetes mellitus Lipoatrophy Polyphagia High pitched voice Skeletal muscle hypertrophy Large hands Prominent umbilicus Reduced intrathoracic adipose tissue Intestinal polyposis Duodenal adenocarcinoma Rectal prolapse Kyphoscoliosis Stomach cancer Hamartomatous polyposis Hematemesis Melena Intussusception Multiple gastric polyps Adenocarcinoma of the colon Cystic angiomatosis of bone Respiratory insufficiency Hepatic vascular malformations Intrauterine growth retardation Depressed nasal bridge Low-set ears Flexion contracture Generalized muscular appearance from birth Labial hypertrophy Abnormality of the zygomatic bone


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