Congestive heart failure, and Inguinal hernia

Diseases related with Congestive heart failure and Inguinal hernia

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


Top matches:

High match CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID; ARCL2D


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

High match ADAMS-OLIVER SYNDROME 5; AOS5


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

High 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

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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 INFANTILE SIALIC ACID STORAGE DISEASE; ISSD


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

High match AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 1


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

High match ARTERIAL TORTUOSITY SYNDROME


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

High 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

High match MUCOPOLYSACCHARIDOSIS TYPE 2, ATTENUATED FORM


Mucopolysaccharidosis type 2, attenuated form (MPS2att), the less severe form of MPS2 (see this term), leads to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive facies, short stature, cardiorespiratory and skeletal findings. It is differentiated from mucopolysaccharidosis type 2, severe form (see this term) by the absence of cognitive decline.

MUCOPOLYSACCHARIDOSIS TYPE 2, ATTENUATED FORM Is also known as iduronate 2-sulfatase deficiency type b|mucopolysaccharidosis type ii, attenuated form|mucopolysaccharidosis type iib|mps2b|mpsiib|hunter syndrome type b|mucopolysaccharidosis type 2b

Related symptoms:

  • Short stature
  • Sensorineural hearing impairment
  • Hepatomegaly
  • Wide nasal bridge
  • Macrocephaly


SOURCES: ORPHANET MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS TYPE 2, ATTENUATED FORM

High match TMEM70-RELATED MITOCHONDRIAL ENCEPHALO-CARDIO-MYOPATHY


Mitochondrial encephalo-cardio-myopathy due to TMEM70 mutation is characterized by early neonatal onset of hypotonia, hypetrophic cardiomyopathy and apneic spells within hours after birth accompanied by lactic acidosis, hyperammonemia and 3-methylglutaconic aciduria.

TMEM70-RELATED MITOCHONDRIAL ENCEPHALO-CARDIO-MYOPATHY Is also known as encephalocardiomyopathy, mitochondrial, neonatal, due to atp synthase deficiency|mitochondrial encephalo-cardio-myopathy due to f1fo atpase deficiency|mitochondrial encephalo-cardio-myopathy due to isolated mitochondrial respiratory chain complex v defici

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about TMEM70-RELATED MITOCHONDRIAL ENCEPHALO-CARDIO-MYOPATHY

Top 5 symptoms//phenotypes associated to Congestive heart failure and Inguinal hernia

Symptoms // Phenotype % cases
Umbilical hernia Common - Between 50% and 80% cases
Hernia Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Cryptorchidism Common - Between 50% and 80% cases
Short stature Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Wide nasal bridge Seizures Microcephaly Intellectual disability Long philtrum Generalized hypotonia Short neck Anteverted nares Hypospadias Hypertension Hypertelorism Joint hyperflexibility Muscular hypotonia Pectus excavatum Epicanthus Cutis laxa Low-set, posteriorly rotated ears Ptosis Camptodactyly of finger Dilatation Respiratory failure Abnormality of cardiovascular system morphology Severe global developmental delay Macrocephaly Cleft palate Hepatomegaly Scoliosis Motor delay Failure to thrive Full cheeks Blepharophimosis Strabismus Low-set ears Abnormal facial shape Hypertrophic cardiomyopathy

Rare Symptoms - Less than 30% cases


Coarse facial features Respiratory tract infection Oligohydramnios Abnormality of the face Recurrent respiratory infections Aortic aneurysm Redundant skin Finger syndactyly Arterial stenosis Respiratory insufficiency Prematurely aged appearance Intrauterine growth retardation Depressed nasal bridge Arachnodactyly Hip dislocation Congenital diaphragmatic hernia Hyperextensible skin Edema Hepatosplenomegaly Premature birth Ataxia Short palpebral fissure External ear malformation Shawl scrotum Intellectual disability, mild Thickened skin Flat face Clinodactyly of the 5th finger Hearing impairment Sensorineural hearing impairment Respiratory distress Abnormality of the skin Arrhythmia Cerebellar atrophy High palate Broad forehead Pulmonary artery stenosis Hypoplasia of the corpus callosum Splenomegaly Encephalopathy Retrognathia Attention deficit hyperactivity disorder Macrotia Pulmonic stenosis Ascites Hip dysplasia Atrial septal defect Pulmonary arterial hypertension Hyperammonemia Cardiomyopathy Abnormal heart morphology Ventricular septal defect Delayed speech and language development Cataract Downslanted palpebral fissures Flexion contracture Arterial fibromuscular dysplasia Increased serum lactate Aciduria Abnormal myocardium morphology Myocarditis Interphalangeal joint contracture of finger Esophagitis Intention tremor Microretrognathia Aortic dissection Leukoencephalopathy Aplasia/Hypoplasia of the corpus callosum Cardiorespiratory arrest Hiatus hernia Aortic root aneurysm Lactic acidosis Small for gestational age Avascular necrosis of the capital femoral epiphysis Wide mouth Upslanted palpebral fissure Posteriorly rotated ears Microphthalmia Intellectual disability, moderate Abnormality of the kidney Micrognathia Abnormality of the zygomatic bone Keratoconus Short philtrum Abnormal carotid artery morphology Keratoglobus Long palm Median cleft lip and palate Femoral hernia Encephalitis Rocker bottom foot Flat occiput Moderate global developmental delay Hyperalaninemia Renal diverticulum Myopia Gastroparesis Supravalvular aortic stenosis Fatigue Short nose Congenital hemolytic anemia Malar flattening Dyspnea Vascular tortuosity Dermal translucency 3-Methylglutaconic aciduria Gastroesophageal reflux Ascending tubular aorta aneurysm Telangiectasia of the skin Bladder diverticulum Bowel diverticulosis Pyloric stenosis Coxa vara Coxa valga Cardiac arrest Thin skin Narrow mouth Ileus Myocardial infarction Abnormal aortic valve morphology Specific learning disability Long face Dilated cardiomyopathy Craniosynostosis Brachycephaly Expressive language delay High forehead Abnormality of mucopolysaccharide metabolism Hirsutism Pectus carinatum Thenar muscle atrophy Obstructive lung disease Heparan sulfate excretion in urine Functional motor deficit Postnatal growth retardation Dermatan sulfate excretion in urine Prominent nose Tonsillitis Conductive hearing impairment Mandibular prognathia Recurrent upper and lower respiratory tract infections Frontal bossing Incisional hernia Gait disturbance Urinary incontinence Otitis media Restricted chest movement Rhinitis Mucopolysacchariduria Wrist flexion contracture Thoracolumbar kyphosis Clubbing of fingers Abnormality of the skull Papilledema Protuberant abdomen Abnormal heart valve morphology Abnormality of the cardiovascular system Short finger Bowel incontinence Multiple joint contractures Prominent supraorbital ridges Widely spaced teeth Hoarse voice Osteoarthritis Cor pulmonale Localized neuroblastoma Telecanthus Nevus Hypertrichosis Dandy-Walker malformation Febrile seizures Wide intermamillary distance Abnormality of the Eustachian tube Ridged cranial sutures Growth delay Microcornea Abnormality of nasopharyngeal adenoids Tremor Cerebral cortical atrophy Acidosis Neonatal hypotonia Flared nostrils Retinopathy Abnormality of the pinna Hypoplasia of dental enamel Generalized hirsutism Increased number of skin folds Hypoplastic nipples Abnormality of the scrotum Upper limb asymmetry Median cleft palate Broad eyebrow Periorbital fullness Lower limb asymmetry Irregular hyperpigmentation Neuroblastoma Scrotal hypoplasia Hamartoma Cerebellar vermis atrophy Abnormality of the musculature Long fingers Overlapping toe Tricuspid regurgitation Overfolded helix Optic nerve hypoplasia Microtia Cardiomegaly Atelectasis Dystrophic toenail Cavernous hemangioma Aplasia cutis congenita of scalp Right ventricular failure Esophageal varix Prominent superficial veins Calcinosis Right ventricular hypertrophy Portal vein thrombosis Progressive proximal muscle weakness Oligodactyly Aplasia cutis congenita Spastic diplegia Abnormality of the coagulation cascade Cutis marmorata Portal hypertension Hypersplenism Prominent scalp veins Ischemic stroke Confusion Spina bifida occulta Scapular winging Hemivertebrae Spina bifida Abnormal vertebral morphology Abnormal form of the vertebral bodies Abnormality of the ribs Hyperlordosis Cutis marmorata telangiectatica congenita Kyphoscoliosis Polydactyly Severe short stature Kyphosis Right atrial enlargement Calcinosis cutis Chronic hepatic failure Patent foramen ovale Small nail Preaxial polydactyly Triangular face Narrow palpebral fissure Pointed chin Sloping forehead Convex nasal ridge Focal-onset seizure Gliosis Sepsis Polymicrogyria Mask-like facies Bulbous nose Protruding ear Camptodactyly Micropenis Pneumonia Ventriculomegaly Talipes equinovarus Focal impaired awareness seizure Right bundle branch block Ventricular hypertrophy Syndactyly Coarctation of aorta Hepatic failure Abnormality of the cerebral white matter Stroke Abnormal cardiac septum morphology Proximal muscle weakness Hyperactivity Myopathy Bundle branch block Brachydactyly Muscle weakness Narrow naris Wide nasal base Cavum septum pellucidum Entropion Disproportionate tall stature Abnormality of the urinary system Short thorax Premature skin wrinkling Aspiration Visceromegaly Conjugated hyperbilirubinemia Dysostosis multiplex Fair hair Esophageal atresia Metaphyseal irregularity Abnormality of the thorax Hydrops fetalis J-shaped sella turcica Gingival overgrowth Nephrotic syndrome Hypopigmentation of the skin Abnormality of the foot Corneal opacity Osteopenia Cerebral atrophy Vacuolated lymphocytes Fetal ascites Abnormality of the skeletal system Bilateral sensorineural hearing impairment Progressive sensorineural hearing impairment Delayed cranial suture closure Emphysema Epiphyseal dysplasia Shock Wormian bones Recurrent urinary tract infections Overgrowth Anemia Vesicoureteral reflux Recurrent fractures Hemolytic anemia Joint laxity Arthralgia Hypothyroidism Osteoporosis Hydrocephalus Nystagmus Prominent occiput Abnormality of female internal genitalia Cognitive impairment Rib segmentation abnormalities Abnormality of the odontoid process Block vertebrae Cervical C2/C3 vertebral fusion Abnormality of the intervertebral disk Urogenital fistula Anomalous pulmonary venous return Behavioral abnormality Rib fusion Disproportionate short-trunk short stature Meningocele Double outlet right ventricle Abnormality of the ureter Abnormality of immune system physiology Vertebral segmentation defect Abnormality of the dentition Pes planus Abnormal vertebral segmentation and fusion Hypoplasia of the maxilla Abnormality of the cervical spine High anterior hairline Genu recurvatum Broad foot Megalocornea Broad palm Round face Delayed eruption of teeth Talipes Single transverse palmar crease Short foot Everted lower lip vermilion Small hand Short palm Oral cleft Cleft upper lip Abnormal pulmonary valve morphology



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Frontal bossing and Brachycephaly, related diseases and genetic alterations Arthritis and Hypogonadism, related diseases and genetic alterations

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