Congestive heart failure, and Ectodermal dysplasia

Diseases related with Congestive heart failure and Ectodermal dysplasia

In the following list you will find some of the most common rare diseases related to Congestive heart failure and Ectodermal dysplasia 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 CRANIOECTODERMAL DYSPLASIA


Cranioectodermal dysplasia (CED) is a rare developmental disorder characterized by congenital skeletal and ectodermal defects associated with dysmorphic features, nephronophthisis, hepatic fibrosis and ocular anomalies (mainly retinitis pigmentosa).

CRANIOECTODERMAL DYSPLASIA Is also known as levin syndrome i|sensenbrenner syndrome|ced

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Growth delay
  • Nystagmus


SOURCES: OMIM ORPHANET MENDELIAN

More info about CRANIOECTODERMAL DYSPLASIA

Low match VEIN OF GALEN ANEURYSMAL MALFORMATION


Vein of Galen aneurysmal malformation (VGAM) is a congenital vascular malformation characterized by dilation of the embryonic precursor of the vein of Galen. It is a sporadic lesion that occurs during embryogenesis.

VEIN OF GALEN ANEURYSMAL MALFORMATION Is also known as vein of galen arteriovenous malformations

Related symptoms:

  • Congestive heart failure
  • Headache
  • Dilatation
  • Abnormality of the cerebral vasculature
  • Prominent superficial veins


SOURCES: MESH ORPHANET MENDELIAN

More info about VEIN OF GALEN ANEURYSMAL MALFORMATION

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Other less relevant matches:

Low match ATRIOVENTRICULAR SEPTAL DEFECT 3; AVSD3


Related symptoms:

  • Hypertension
  • Congestive heart failure
  • Cyanosis
  • Pulmonary arterial hypertension
  • First degree atrioventricular block


SOURCES: OMIM MENDELIAN

More info about ATRIOVENTRICULAR SEPTAL DEFECT 3; AVSD3

Low match PARKES WEBER SYNDROME


Related symptoms:

  • Congestive heart failure
  • Headache
  • Glaucoma
  • Abnormal bleeding
  • Hemiparesis


SOURCES: ORPHANET MENDELIAN

More info about PARKES WEBER SYNDROME

Low match CARDIOMYOPATHY-HYPOTONIA-LACTIC ACIDOSIS SYNDROME


Cardiomyopathy-hypotonia-lactic acidosis syndrome is characterised by hypertrophic cardiomyopathy, muscular hypotonia and the presence of lactic acidosis at birth. It has been described in two sisters (both of whom died within the first year of life) from a nonconsanguineous Turkish family. The syndrome is caused by a homozygous point mutation in the exon 3A of the SLC25A3 gene encoding a mitochondrial membrane transporter.

CARDIOMYOPATHY-HYPOTONIA-LACTIC ACIDOSIS SYNDROME Is also known as mpcd

Related symptoms:

  • Generalized hypotonia
  • Failure to thrive
  • Muscular hypotonia
  • Respiratory insufficiency
  • Respiratory distress


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about CARDIOMYOPATHY-HYPOTONIA-LACTIC ACIDOSIS SYNDROME

Low match CONGENITAL DYSERYTHROPOIETIC ANEMIA TYPE II


Congenital dyserythropoietic anemia type II (CDA II) is the most common form of CDA (see this term) characterized by anemia, jaundice and splenomegaly and often leading to liver iron overload and gallstones.

CONGENITAL DYSERYTHROPOIETIC ANEMIA TYPE II Is also known as dyserythropoietic anemia, congenital, type ii|cda ii|sec23b-cdg|hempas|hereditary erythroblastic multinuclearity with positive acidified-serum test|cda type ii|cda type 2|hereditary erythroblastic multinuclearity with a positive acidified-serum test (hemp

Related symptoms:

  • Anemia
  • Hepatomegaly
  • Congestive heart failure
  • Splenomegaly
  • Arrhythmia


SOURCES: ORPHANET OMIM MENDELIAN

More info about CONGENITAL DYSERYTHROPOIETIC ANEMIA TYPE II

Low match SEGMENTAL OUTGROWTH-LIPOMATOSIS-ARTERIOVENOUS MALFORMATION-EPIDERMAL NEVUS SYNDROME


Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome is a rare, genetic, polymalformative syndrome characterized by progressive, proportionate, asymmetric segmental overgrowth (with soft tissue hypertrophy and ballooning effect) that develops and progresses rapidly in early childhood, arteriovenous and lymphatic vascular malformations, lipomatosis and linear epidermal nevus (arranged in whorls along the lines of Blaschko). Clinical symptoms of Cowden syndrome, such as macrocephaly and progressive development of numerous hypertrophic hamartomatous and neoplastic lesions involving multiple organs and systems, are also associated. Patients present an increased risk of developing cancer.

SEGMENTAL OUTGROWTH-LIPOMATOSIS-ARTERIOVENOUS MALFORMATION-EPIDERMAL NEVUS SYNDROME Is also known as solamen syndrome

Related symptoms:

  • Macrocephaly
  • Congestive heart failure
  • Papule
  • Talipes
  • Recurrent fractures


SOURCES: ORPHANET MENDELIAN

More info about SEGMENTAL OUTGROWTH-LIPOMATOSIS-ARTERIOVENOUS MALFORMATION-EPIDERMAL NEVUS SYNDROME

Low match IDIOPATHIC PULMONARY FIBROSIS


Idiopathic pulmonary fibrosis (IPF) is a nonneoplastic pulmonary disease that is characterized by the formation of scar tissue within the lungs in the absence of any known cause.

IDIOPATHIC PULMONARY FIBROSIS Is also known as cfa|uip|usual interstitial pneumonia|interstitial pneumonitis, usual|idiopathic pulmonary fibrosis, familial|cryptogenic fibrosing alveolitis|fibrosing alveolitis, cryptogenic|fibrocystic pulmonary dysplasia

Related symptoms:

  • Neoplasm
  • Hypertension
  • Fever
  • Respiratory insufficiency
  • Respiratory distress


SOURCES: OMIM ORPHANET MENDELIAN

More info about IDIOPATHIC PULMONARY FIBROSIS

Top 5 symptoms//phenotypes associated to Congestive heart failure and Ectodermal dysplasia

Symptoms // Phenotype % cases
Cyanosis Uncommon - Between 30% and 50% cases
Dilatation Uncommon - Between 30% and 50% cases
Arrhythmia Uncommon - Between 30% and 50% cases
Respiratory failure Uncommon - Between 30% and 50% cases
Cardiomyopathy Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Rare Symptoms - Less than 30% cases


Right bundle branch block Cardiomegaly Pulmonary arterial hypertension Palpitations Ventricular tachycardia Clubbing of fingers Exertional dyspnea Woolly hair Hypertension Hepatomegaly Right ventricular cardiomyopathy Respiratory insufficiency Respiratory distress Cirrhosis Generalized hypotonia Headache Syncope Dilated cardiomyopathy Nail dystrophy Hyperkeratosis Dyspnea Peripheral arteriovenous fistula Tachycardia Palmoplantar keratoderma Sudden cardiac death Erythema Splenomegaly Jaundice Anemia Low-output congestive heart failure Pruritus Pain Abnormal mitochondrial shape Hepatosplenomegaly Abnormality of the liver Leukemia Prolonged neonatal jaundice Hyperbilirubinemia Cholelithiasis Reticulocytosis Gout Anemia of inadequate production Chronic myelogenous leukemia Congenital hypoplastic anemia Increased total bilirubin Reduced activity of N-acetylglucosaminyltransferase II Abnormality of the mitochondrion Increased red cell osmotic fragility Endopolyploidy on chromosome studies of bone marrow Increased hemoglobin Fatigue Severe muscular hypotonia Telangiectasia of the skin Abnormality of the cerebral vasculature Prominent superficial veins Increased head circumference Vein of Galen aneurysmal malformation First degree atrioventricular block Primum atrial septal defect Midsystolic murmur Inlet ventricular septal defect Glaucoma Abnormal bleeding Hemiparesis Nevus flammeus Increased serum lactate Varicose veins Vascular skin abnormality Ichthyosis Hypertrophy of the lower limb Hypertrophy of the upper limb Failure to thrive Muscular hypotonia Myopathy Acidosis Hypertrophic cardiomyopathy Lactic acidosis Metabolic acidosis Carious teeth Myocardial fibrosis Chest pain Bronchiectasis Lymphangioma Upper limb asymmetry Neoplasm of the thyroid gland Neoplasm Fever Pneumonia Gastroesophageal reflux Carcinoma Respiratory tract infection Scarring Cough Abnormal lung morphology Scaling skin Excessive wrinkled skin Clubbing Pulmonary fibrosis Increased antibody level in blood Interstitial pulmonary abnormality Polycythemia Pulmonary infiltrates Right ventricular failure Pulmonary insufficiency Crackles Alveolar cell carcinoma Hypocapnia Reticular pattern on pulmonary HRCT Honeycomb lung Neoplasm of the breast Visceral angiomatosis Oligodontia Selective tooth agenesis Reduced number of teeth Absent eyebrow Loss of consciousness Bundle branch block Aplasia/Hypoplasia of the eyebrow Hypokinesia Agenesis of permanent teeth Parakeratosis Abnormal EKG Fragile nails Broad distal phalanges of all fingers Leukonychia Reduced systolic function Venous insufficiency Gingival recession Agenesis of molar Macrocephaly Papule Talipes Recurrent fractures Subcutaneous nodule Reduced bone mineral density Hemiplegia/hemiparesis Hamartoma Ovarian neoplasm Arteriovenous malformation Lower limb asymmetry Malformation of the hepatic ductal plate Abnormal toenail morphology Incisional hernia Abnormality of the skeletal system Ventricular flutter Abnormal morphology of right ventricular trabeculae Global developmental delay Microcephaly Growth delay Nystagmus High palate Epicanthus Brachydactyly Wide nasal bridge Myopia Frontal bossing Anteverted nares Paroxysmal ventricular tachycardia Abnormality of the dentition Renal insufficiency Abnormality of cardiovascular system morphology Hernia Pectus excavatum Clinodactyly Clinodactyly of the 5th finger Osteoporosis High forehead Photophobia Telecanthus Joint laxity Postnatal growth retardation Abnormal right ventricle morphology Right ventricular dilatation Craniosynostosis Acanthosis nigricans Abnormal heart morphology Alopecia Hyperhidrosis Cleft upper lip Vertigo Sepsis Abnormal blistering of the skin Epidermal acanthosis Sparse scalp hair Long eyelashes Sparse and thin eyebrow Cardiac arrest Ventricular arrhythmia Prolonged QRS complex Brittle hair Akinesia Fragile skin Curly hair Alopecia of scalp Ventricular extrasystoles Reduced ejection fraction Onycholysis Hypergranulosis T-wave inversion Abnormality of hair texture Acantholysis Abnormal T-wave Protruding ear Sparse hair Renal magnesium wasting Taurodontia Redundant skin Radial deviation of finger Cupped ear Abnormality of dental morphology Thoracic hypoplasia Short thorax Prominent occiput High hypermetropia Short humerus Fibular hypoplasia Protuberant abdomen Scaphocephaly Tubulointerstitial nephritis Bicuspid aortic valve Anodontia Elevated serum creatinine Slow-growing hair Sagittal craniosynostosis Hepatic cysts Abnormal diaphysis morphology Abnormality of the abdominal wall Flattened epiphysis Thin nail Interstitial pneumonitis Short nail Tubulointerstitial abnormality Broad toe Chronic kidney disease Widely spaced teeth Finger syndactyly Full cheeks Dolichocephaly Narrow chest Joint hyperflexibility Stage 5 chronic kidney disease Hepatic failure Short distal phalanx of finger Retinal dystrophy High, narrow palate Nephropathy Everted lower lip vermilion Single transverse palmar crease Hypodontia Microdontia Cutis laxa Limb undergrowth Hypotelorism Fine hair Abnormality of the metaphysis Omphalocele Hypoplasia of dental enamel Rhizomelia Hepatic fibrosis Short toe Short ribs Hypocalcemia Abnormality of dental enamel Abnormality of the fingernails Ground-glass opacification on pulmonary HRCT



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