Congestive heart failure, and Nail dystrophy

Diseases related with Congestive heart failure and Nail dystrophy

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


Top matches:

Medium match NAXOS DISEASE


Naxos disease is a recessively inherited condition with arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) and a cutaneous phenotype, characterised by peculiar woolly hair and palmoplantar keratoderma.

NAXOS DISEASE Is also known as keratosis palmoplantaris with arrhythmogenic cardiomyopathy|palmoplantar hyperkeratosis with arrythmogenic cardiomyopathy|kwwh type i|keratoderma with woolly hair type i|mal de naxos|palmoplantar keratoderma with arrhythmogenic right ventricular cardiomyo

Related symptoms:

  • Fatigue
  • Cardiomyopathy
  • Congestive heart failure
  • Dilatation
  • Arrhythmia


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about NAXOS DISEASE

Medium 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

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Other less relevant matches:

Medium match INCONTINENTIA PIGMENTI


Incontinentia pigmenti (IP) is a rare X-linked dominant multi-systemic ectodermal dysplasia usually lethal in males and presenting neonatally in females with a bullous rash along Blashko's lines (BL) followed by verrucous plaques evolving over time to hyperpigmented swirling patterns. It is further characterized by teeth abnormalities, alopecia, nail dystrophy and affects occasionally the retina and the central nervous system (CNS).

INCONTINENTIA PIGMENTI Is also known as bloch-siemens syndrome|bloch-sulzberger syndrome

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about INCONTINENTIA PIGMENTI

Medium 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

Medium match CARDIOFACIOCUTANEOUS SYNDROME


Cardiofaciocutaneous (CFC) syndrome is a RASopathy characterized by craniofacial dysmorphology, congenital heart disease, dermatological abnormalities (most commonly hyperkeratotic skin and sparse, curly hair), growth retardation and intellectual disability.

CARDIOFACIOCUTANEOUS SYNDROME Is also known as cfcs|cfc syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about CARDIOFACIOCUTANEOUS SYNDROME

Low match CARVAJAL SYNDROME


Woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome is characterized by woolly hair, palmoplantar keratoderma and dilated cardiomyopathy principally affecting the left ventricle.

CARVAJAL SYNDROME Is also known as keratoderma with woolly hair type ii|palmoplantar keratoderma with left ventricular cardiomyopathy and woolly hair|woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome|wooly hair-palmoplantar hyperkeratosis-dilated cardiomyopathy syndrome|

Related symptoms:

  • Cardiomyopathy
  • Edema
  • Congestive heart failure
  • Hyperkeratosis
  • Dilated cardiomyopathy


SOURCES: OMIM ORPHANET MENDELIAN

More info about CARVAJAL SYNDROME

Low 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

Low match AUTOSOMAL DOMINANT HYPOCALCEMIA


Autosomal dominant hypocalcemia (AD hypocalcemia) is a disorder of calcium homeostasis characterized by variable degrees of hypocalcemia with abnormally low levels of parathyroid hormone (PTH) and persistant normal or elevated calciuria.

AUTOSOMAL DOMINANT HYPOCALCEMIA Is also known as ad hypocalcemia|hypocalcemia, familial|hypercalciuric hypocalcemia

Related symptoms:

  • Seizures
  • Short stature
  • Optic atrophy
  • Fatigue
  • Congestive heart failure


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL DOMINANT HYPOCALCEMIA

Low match TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1; HHT1


Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant vascular dysplasia leading to telangiectases and arteriovenous malformations of skin, mucosa, and viscera. Epistaxis and gastrointestinal bleeding are frequent complications of mucosal involvement. Visceral involvement includes that of the lung, liver, and brain. The most frequent form of hereditary hemorrhagic telangiectasia maps to the long arm of chromosome 9. Genetic Heterogeneity of Hereditary Hemorrhagic TelangiectasiaSee also HHT2 (OMIM ), caused by mutation in the ALK1 gene (ACVRL1 ) on chromosome 12q13; HHT3 (OMIM ), mapped to chromosome 5q31; HHT4 (OMIM ), mapped to chromosome 7p14; and HHT5 (OMIM ), caused by mutation in the GDF2 gene (OMIM ) on chromosome 10q11.See also juvenile polyposis/HHT syndrome (OMIM ), caused by mutation in the SMAD4 gene (OMIM ).

TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1; HHT1 Is also known as telangiectasia, hereditary hemorrhagic, of rendu, osler, and weber|orw disease|hht|osler-rendu-weber disease

Related symptoms:

  • Seizures
  • Anemia
  • Hypertension
  • Congestive heart failure
  • Headache


SOURCES: OMIM MENDELIAN

More info about TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1; HHT1

Top 5 symptoms//phenotypes associated to Congestive heart failure and Nail dystrophy

Symptoms // Phenotype % cases
Cardiomyopathy Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Hyperkeratosis Uncommon - Between 30% and 50% cases
Umbilical hernia Uncommon - Between 30% and 50% cases
Alopecia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Scoliosis Palmoplantar keratoderma Woolly hair Short stature Global developmental delay Erythema Dilatation Encephalopathy Hernia Splenomegaly Cavernous hemangioma Intellectual disability Strabismus Muscular hypotonia Cataract Dyspnea Hyperhidrosis Hypertension Abnormality of the nail Abnormal heart morphology Arrhythmia Dilated cardiomyopathy Posteriorly rotated ears Cardiomegaly Downslanted palpebral fissures Ventricular tachycardia

Rare Symptoms - Less than 30% cases


Generalized hypotonia Ascites Portal hypertension Macrotia Ischemic stroke Small nail Ventricular hypertrophy Joint hypermobility Coarctation of aorta Abnormality of the cerebral white matter Pulmonic stenosis Behavioral abnormality Stroke Attention deficit hyperactivity disorder Abnormal cardiac septum morphology Depressivity Coarse facial features Inguinal hernia Thick vermilion border Bulbous nose Ventricular septal defect Brachydactyly Kyphosis Esophageal varix Dystrophic toenail Nephrolithiasis Broad nail Hemangioma Large for gestational age Pericardial effusion Hearing impairment Irregular hyperpigmentation Dystrophic fingernails Hyperextensibility of the finger joints Spina bifida occulta Abnormality of the fingernails Delayed eruption of teeth Edema Abnormality of skin pigmentation High palate Hepatomegaly Myopia Cerebral cortical atrophy Macrocephaly Low-set ears Intellectual disability, severe Optic atrophy Polyhydramnios Thickened skin Synophrys Pulmonary arterial hypertension Fragile nails Dry skin Myocardial fibrosis Cyanosis Abnormal blistering of the skin Aplasia/Hypoplasia of the eyebrow Right bundle branch block Brittle hair Right ventricular cardiomyopathy Absent eyebrow Curly hair Alopecia of scalp Abnormal EKG Clubbing of fingers Palpitations Reduced number of teeth Syncope Tachycardia Pruritus Fatigue Ichthyosis Sudden cardiac death Abnormality of hair texture Hypertrophic cardiomyopathy Deep palmar crease Endocarditis Increased nuchal translucency Sparse or absent eyelashes Decreased body weight Multiple lentigines Thickened helices Hyperpigmentation of the skin Excessive wrinkled skin Subvalvular aortic stenosis Gastrointestinal dysmotility Slow-growing hair Abnormality of the pulmonary artery Abnormal aortic valve morphology Lymphedema Abnormal mitral valve morphology Cafe-au-lait spot Heart murmur Generalized ichthyosis Frontal balding Functional abnormality of the gastrointestinal tract Cutaneous T-cell lymphoma Morphological abnormality of the gastrointestinal tract Puberty and gonadal disorders Abnormality of the cardiovascular system Narrow forehead Abnormal location of ears Abnormality of the hairline Hyperkeratosis pilaris Tongue thrusting Low posterior hairline Fine hair Anterior creases of earlobe Laryngeal cleft Myocardial infarction Hemiparesis Inflammatory abnormality of the skin Abnormal myocardium morphology Hypoplasia of the frontal lobes Optic nerve dysplasia Patchy alopecia Abnormal tricuspid valve morphology Open mouth Abnormality of the optic disc Abnormality of refraction Abnormal hair pattern Delayed CNS myelination Deep philtrum Long palpebral fissure Delayed gross motor development Optic nerve hypoplasia Abnormality of the sternum Palmoplantar hyperkeratosis Abnormality of vision Infantile spasms Relative macrocephaly Poor suck Neurofibromas Neurodevelopmental delay Hyperextensible skin Hydroureter Multiple cafe-au-lait spots Redundant skin Failure to thrive in infancy Bilateral ptosis Malnutrition Sparse eyebrow Scaling skin Pleural effusion Open bite Ectropion Obsessive-compulsive behavior Melanocytic nevus Cubitus valgus Abnormal heart valve morphology Biparietal narrowing Cerebral visual impairment Sparse eyelashes Abnormality of the testis Abnormality of the optic nerve Chronic otitis media Thick upper lip vermilion Short attention span Abnormality of the gastrointestinal tract Aspiration Abnormality of the ulna Premature skin wrinkling Hypoplasia of the zygomatic bone Absent eyelashes Narrow palate Oculomotor apraxia Abnormality of the genitourinary system Enlarged kidney Arnold-Chiari type I malformation Cutis laxa Abnormal eyelash morphology Atopic dermatitis Poor appetite Underdeveloped supraorbital ridges Abnormal palate morphology Anal stenosis Submucous cleft hard palate Aplasia/Hypoplasia of the corpus callosum Generalized hyperpigmentation Sleep apnea Pain Eclabion Inappropriate crying Elevated alkaline phosphatase Migraine with aura Hypoxemia Hematochezia Transient ischemic attack Abnormality of the vasculature Thrombocytosis Subarachnoid hemorrhage Hemoptysis Polycythemia Scleroderma Cerebral hemorrhage Clubbing Atherosclerosis Hematemesis Telangiectasia Epistaxis Gastrointestinal hemorrhage Migraine Hematuria Cirrhosis Nausea Abnormality of the liver Visual loss Headache Anemia Hypermagnesiuria Laryngospasm Conjunctival telangiectasia Melena Hypocalcemic seizures Hepatic arteriovenous malformation Dilatation of celiac artery Gastrointestinal telangiectasia Dilatation of mesenteric artery Venous varicosities of celiac and mesenteric vessels Nail bed telangiectasia Fingerpad telangiectases Visual auras Nasal mucosa telangiectasia High-output congestive heart failure Tongue telangiectasia Palate telangiectasia Arteriovenous fistulas of celiac and mesenteric vessels Spinal arteriovenous malformation Venous malformation Pulmonary arteriovenous malformation Brain abscess Right-to-left shunt Coronary artery aneurysm Hemangiomatosis Cerebral arteriovenous malformation Lip telangiectasia Gastrointestinal angiodysplasia Pulmonary hemorrhage Polycystic liver disease Focal sensory seizure Arteriovenous fistula Spontaneous, recurrent epistaxis Cortical myoclonus Writer's cramp Abnormality of the auditory canal Difficulty walking Broad palm Hallux valgus Skeletal muscle hypertrophy Abnormality of the voice Prominent supraorbital ridges Congenital hip dislocation Joint contracture of the hand Mitral regurgitation Prominent nose Everted lower lip vermilion Wide nose Hip dislocation Retrognathia Limited elbow movement Pes cavus Elevated serum creatine phosphokinase Mildly reduced ejection fraction Patchy palmoplantar keratoderma Cardiomyocyte hypertrophy Impaired myocardial contractility Congenital bullous ichthyosiform erythroderma Abnormal atrioventricular conduction Skin vesicle Oral aversion Multiple plantar creases Eyelid fasciculation Multiple palmar creases Growth hormone deficiency Brachyturricephaly Increased circulating renin level Increased intracranial pressure Abnormal pattern of respiration Abnormal renal physiology Tetany Reduced consciousness/confusion Hyperphosphatemia Hypomagnesemia Hypoparathyroidism Fatigable weakness Basal ganglia calcification Emotional lability Hypokalemia Hypercalciuria Reduced bone mineral density Nephrocalcinosis Hyperplasia of the maxilla Hypocalcemia EMG abnormality Eczema Hypotension Muscle cramps Paresthesia Anxiety Abdominal pain Dislocation of toes Pugilistic facies Marked muscular hypertrophy Progressive pes cavus Camptodactyly of toe Progressive visual loss Long philtrum Webbed neck Cognitive impairment Blue sclerae Hypodontia Retinal detachment Oral cleft Corneal opacity Finger syndactyly Skin rash Camptodactyly of finger Microphthalmia Gait disturbance Visual impairment Spasticity Abnormality of the hair Right atrial enlargement Calcinosis cutis Chronic hepatic failure Cutis marmorata telangiectatica congenita Prominent scalp veins Portal vein thrombosis Hypersplenism Aplasia cutis congenita of scalp Right ventricular failure Prominent superficial veins Calcinosis Right ventricular hypertrophy Skin ulcer Abnormality of dental enamel Oligodactyly Verrucae Sensorineural hearing impairment Retinal vascular proliferation Abnormal hand morphology Ridged fingernail Abnormal chorioretinal morphology Absent hand Retinal hemorrhage Asymmetric growth Supernumerary ribs Deviation of finger Cerebral ischemia Hypoplastic fingernail Osteolysis Abnormal toenail morphology Hearing abnormality Uveitis Abnormality of immune system physiology Telangiectasia of the skin Supernumerary nipple Hemiplegia/hemiparesis Keratitis Abnormality of dental morphology Encephalitis Eosinophilia Hypopigmented skin patches Progressive proximal muscle weakness Aplasia cutis congenita Wide nasal bridge Respiratory failure Ventricular arrhythmia Acanthosis nigricans Cardiac arrest Sparse and thin eyebrow Long eyelashes Sparse scalp hair Epidermal acanthosis Ectodermal dysplasia Sepsis Vertigo Cleft upper lip Agenesis of molar Exertional dyspnea Gingival recession Reduced systolic function Selective tooth agenesis Leukonychia Parakeratosis Agenesis of permanent teeth Hypokinesia Bundle branch block Loss of consciousness Oligodontia Chest pain Carious teeth Akinesia Fragile skin Spastic diplegia Motor delay Abnormality of the coagulation cascade Cutis marmorata Patent foramen ovale Hyperammonemia Hip dysplasia Hepatic failure Severe global developmental delay Proximal muscle weakness Hyperactivity Syndactyly Myopathy Muscle weakness Ventricular extrasystoles Abnormal morphology of right ventricular trabeculae Ventricular flutter Abnormal right ventricle morphology Paroxysmal ventricular tachycardia Right ventricular dilatation Prolonged QRS complex Abnormal T-wave Acantholysis T-wave inversion Hypergranulosis Onycholysis Reduced ejection fraction Abnormal facial shape Abnormality of the skeletal system Dental malocclusion Prominent forehead Abnormality of the eye Low-set, posteriorly rotated ears Telecanthus Aggressive behavior Hydronephrosis EEG abnormality Osteopenia Gastroesophageal reflux High forehead Proptosis Autism Constipation Feeding difficulties in infancy Clinodactyly of the 5th finger Delayed skeletal maturation Pectus excavatum Thrombocytopenia Abnormality of cardiovascular system morphology Cerebral atrophy Malar flattening Short nose Hypertonia Abnormality of the dentition Vomiting Blindness Abnormality of the kidney Irritability Hydrocephalus Bruising susceptibility Premature birth Intestinal malrotation Vesicoureteral reflux Nevus Full cheeks Abnormal bleeding Abdominal distention Sleep disturbance High, narrow palate Hepatic steatosis Retinal dystrophy Falls Respiratory tract infection Long face Peripheral axonal neuropathy Astigmatism Genu valgum Hypotrichosis Hypermetropia Dolichocephaly Neurological speech impairment Leukemia Pectus carinatum Scarring Sparse hair Atrial septal defect Short neck Patent ductus arteriosus Intellectual disability, profound Aortic root aneurysm Anonychia Metaphyseal widening Growth abnormality Accelerated skeletal maturation Intellectual disability, progressive Hemivertebrae Generalized hirsutism Gingival overgrowth Hypertrichosis Thick lower lip vermilion Bilateral sensorineural hearing impairment Broad ribs Overgrowth Macroglossia Hirsutism Short distal phalanx of finger Thick eyebrow Congenital cataract Broad forehead Wide mouth Protruding ear Hepatosplenomegaly Mandibular prognathia Polydactyly Protruding tongue Thin bony cortex Anteverted nares Neoplasm Ventriculomegaly Dysphagia Frontal bossing Dysarthria Epicanthus Depressed nasal bridge Delayed speech and language development Feeding difficulties Ptosis Cryptorchidism Micrognathia Failure to thrive Nystagmus Colpocephaly Hypertelorism Growth delay Ataxia Mesiodens Short distal phalanx of toe Prominent eyelashes Aortic arch aneurysm Everted upper lip vermilion Generalized hypertrichosis Biliary atresia Gingival fibromatosis Long penis Gastrointestinal arteriovenous malformation



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