Congestive heart failure, and Sparse hair

Diseases related with Congestive heart failure and Sparse hair

In the following list you will find some of the most common rare diseases related to Congestive heart failure and Sparse hair 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

Low match LMNA-RELATED CARDIOCUTANEOUS PROGERIA SYNDROME


LMNA-related cardiocutaneous progeria syndrome is a rare, genetic, premature aging syndrome characterized by adulthood-onset cutaneous manifestations that result in a prematurely aged appearance (i.e. premature thinning and graying of scalp hair, loss of subcutaneous fat, tightening of skin) associated with prominent cardiovascular manifestations, such as accelerated atherosclerosis, calcific valve disease, and cardiomyopathy. Patients present loss of eyebrows and eyelashes in childhood and have a predisposition to develop malignancies.

LMNA-RELATED CARDIOCUTANEOUS PROGERIA SYNDROME Is also known as lcps

Related symptoms:

  • Hypertension
  • Cardiomyopathy
  • Congestive heart failure
  • Sparse hair
  • Ventricular hypertrophy


SOURCES: ORPHANET MENDELIAN

More info about LMNA-RELATED CARDIOCUTANEOUS PROGERIA SYNDROME

Low match DILATED CARDIOMYOPATHY-HYPERGONADOTROPIC HYPOGONADISM SYNDROME


This syndrome is characterized by the association of dilated cardiomyopathy and hypergonadotropic hypogonadism (DCM-HH).

DILATED CARDIOMYOPATHY-HYPERGONADOTROPIC HYPOGONADISM SYNDROME Is also known as cardiomyopathy, dilated, with premature ovarian failure|genital anomaly with cardiomyopathy|najjar syndrome|cardiomyopathy, congestive, with hypergonadotropic hypogonadism|cardiogenital syndrome|cardiomyopathy with primary testicular failure|malouf syndro

Related symptoms:

  • Intellectual disability
  • Short stature
  • Scoliosis
  • Cryptorchidism
  • Ptosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about DILATED CARDIOMYOPATHY-HYPERGONADOTROPIC HYPOGONADISM SYNDROME

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Other less relevant matches:

Low match TSH-SECRETING PITUITARY ADENOMA


A rare adenoma of the anterior lobe of the pituitary gland that produces thyrotropin. It is usually associated with goiter and hyperthyroidism.

TSH-SECRETING PITUITARY ADENOMA Is also known as thyrotroph adenoma|pituitary thyrotrophic adenoma|thyroid stimulating hormone-secreting pituitary adenoma|tsh-oma

Related symptoms:

  • Seizures
  • Ptosis
  • Hypertension
  • Tremor
  • Fatigue


SOURCES: ORPHANET MENDELIAN

More info about TSH-SECRETING PITUITARY ADENOMA

Low match DK1-CDG


DK1-CDG is characterised by muscular hypotonia and ichthyosis. It has been described in four children from two consanguineous families. All the affected children died during early infancy, two from dilated cardiomyopathy. The syndrome is caused by a deficiency in dolichol kinase 1 (DK1), an enzyme involved in the de novo biosynthesis of dolichol phosphate. The mutations identified in the DK1 gene led to a 96 to 98% reduction in DK activity.

DK1-CDG Is also known as cdg-im|cdg im|hypotonia and ichthyosis due to dolichol phosphate deficiency|cdg syndrome type im|congenital disorder of glycosylation type im|congenital disorder of glycosylation type 1m|cdgim|dk1 deficiency|cdg1m|carbohydrate deficient glycoprotein syndr

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Growth delay


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about DK1-CDG

Low match WERNER SYNDROME


Werner syndrome (WS) is a rare inherited syndrome characterized by premature aging with onset in the third decade of life and with cardinal clinical features including bilateral cataracts, short stature, graying and thinning of scalp hair, characteristic skin disorders and premature onset of additional age-related disorders.

WERNER SYNDROME Is also known as ws|adult progeria

Related symptoms:

  • Short stature
  • Neoplasm
  • Pain
  • Cataract
  • Visual impairment


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about WERNER SYNDROME

Low 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 ATYPICAL WERNER SYNDROME


Atypical Werner syndrome refers to a heterogeneous group of cases that are clinically diagnosed as Werner syndrome (WS; see this term) but do not carry WRN gene mutations. Similar to classical WS caused by WRN mutations, patients generally exhibit an aged appearance and common age-related disorders at earlier ages compared to the general population.

ATYPICAL WERNER SYNDROME Is also known as atypical progeroid syndrome

Related symptoms:

  • Short stature
  • Failure to thrive
  • Micrognathia
  • Hypertension
  • Skeletal muscle atrophy


SOURCES: ORPHANET MENDELIAN

More info about ATYPICAL WERNER SYNDROME

Low match ROBERTS SYNDROME


Roberts syndrome (RBS) is characterized by pre- and postnatal growth retardation, severe symmetric limb reduction defects, craniofacial anomalies and severe intellectual deficit. SC phocomelia is a milder form of RBS.

ROBERTS SYNDROME Is also known as pseudothalidomide syndrome|roberts-sc phocomelia syndrome|sc pseudothalidomide syndrome|sc phocomelia

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about ROBERTS SYNDROME

Low match NAGER SYNDROME


Nager syndrome, also called Nager acrofacial dysostosis (NAFD) is a congenital malformation syndrome characterized by mandibulofacial dystosis (malar hypoplasia, micrognathia, external ear malformations) and variable preaxial limb defects.

NAGER SYNDROME Is also known as afd, nager type|mandibulofacial dysostosis, treacher collins type, with limb anomalies|preaxial acrodysostosis|nager acrofacial dysostosis|nager syndrome|mandibulofacial dysostosis with preaxial limb anomalies|nafd

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Scoliosis


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about NAGER SYNDROME

Top 5 symptoms//phenotypes associated to Congestive heart failure and Sparse hair

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Osteoporosis Uncommon - Between 30% and 50% cases
Hypertension Uncommon - Between 30% and 50% cases
Hypogonadism 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 Sparse hair. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Lipoatrophy Hyperkeratosis Alopecia Aortic valve stenosis Aplasia/Hypoplasia of the eyebrow Nystagmus Micrognathia Premature graying of hair Pain Scleroderma Prematurely aged appearance Cryptorchidism Growth delay Global developmental delay Intellectual disability Ptosis Abnormality of the skeletal system Retrognathia Delayed puberty Seizures Convex nasal ridge Abnormality of the testis Secondary amenorrhea Radial deviation of finger Increased bone mineral density Ventricular tachycardia Sparse scalp hair Cleft upper lip Brachydactyly Dilated cardiomyopathy Abnormality of cardiovascular system morphology Microcephaly Dilatation Clinodactyly Arrhythmia

Rare Symptoms - Less than 30% cases


Hepatomegaly Thin skin Posteriorly rotated ears Malar flattening Renal insufficiency Downslanted palpebral fissures Neoplasm of the oral cavity Cleft palate Strabismus Generalized hypotonia Premature arteriosclerosis High palate Failure to thrive Neoplasm of the small intestine Premature birth Prominent nasal bridge Absent thumb Lipodystrophy Premature ovarian insufficiency Phocomelia Hernia Absent radius Aplasia/Hypoplasia of the thumb Postnatal growth retardation Finger syndactyly Radioulnar synostosis Hypoplasia of the radius Craniosynostosis Short thumb Hemiparesis Abnormal hair whorl Subcutaneous calcification White forelock Meningioma Abnormality of the voice Abnormality of retinal pigmentation Skin ulcer Abnormality of the hair Narrow face Melanoma Laryngomalacia Renal neoplasm Abnormality of the thorax Myocardial infarction Rocker bottom foot Short toe Decreased fertility Aplasia/Hypoplasia of the skin Telangiectasia of the skin Ovarian neoplasm Neoplasm of the lung Progeroid facial appearance Decreased body weight Type II diabetes mellitus Hypotrichosis Abnormality of the dentition Pili torti Chondrocalcinosis Lack of skin elasticity Hyperglycemia Neoplasm Cataract Skeletal muscle atrophy Peripheral arterial stenosis Chest pain Diabetes mellitus Proptosis Joint stiffness Abnormality of the cerebral vasculature Spontaneous abortion Retinal degeneration Nephropathy Osteosarcoma Fatigue Clinodactyly of the 5th finger Hypergonadotropic hypogonadism Micropenis Mitral regurgitation Cyanosis Hypertriglyceridemia Cardiomegaly Palpitations Sparse and thin eyebrow Osteopenia Ventricular arrhythmia Atherosclerosis Intellectual disability, mild Wide nasal bridge Abnormality of the pulmonary artery Flexion contracture Exertional dyspnea Scoliosis Coronary artery atherosclerosis Alopecia of scalp Full cheeks Microtia Tachycardia Vertigo Ectodermal dysplasia Respiratory failure Hyperhidrosis Tetralogy of Fallot Atrioventricular block Sagittal craniosynostosis Hepatic cysts Abnormal palate morphology Abnormal diaphysis morphology Redundant skin Urticaria Atresia of the external auditory canal Slow-growing hair Abnormality of the abdominal wall Triphalangeal thumb Flattened epiphysis Chronic kidney disease Unilateral renal agenesis Overlapping toe Spastic diplegia Bicuspid aortic valve Widely spaced teeth Preauricular skin tag Abnormality of dental morphology Cupped ear Tubulointerstitial nephritis Fibular hypoplasia Congenital diaphragmatic hernia Dental malocclusion Short humerus High hypermetropia Hypoplasia of the maxilla Scaphocephaly Taurodontia Prominent occiput Protuberant abdomen Hallux valgus Anodontia Split hand Elevated serum creatinine Abnormal toenail morphology Short thorax Thoracic hypoplasia Choanal atresia Aganglionic megacolon Cutis laxa Rhizomelia Abnormality of the fingernails Joint hyperflexibility Single transverse palmar crease Everted lower lip vermilion High, narrow palate Retinal dystrophy Short distal phalanx of finger Hepatic failure Foot oligodactyly Stage 5 chronic kidney disease Velopharyngeal insufficiency Hypoplasia of the epiglottis Microdontia Hemifacial hypoplasia Narrow chest Dolichocephaly Laryngeal hypoplasia Short distal phalanx of the thumb Absent toe Protruding ear Lower eyelid coloboma Joint laxity Sparse lower eyelashes Hypodontia Mandibulofacial dysostosis Broad hallux Hypoplasia of the zygomatic bone Limited elbow extension Abnormality of dental enamel Non-midline cleft lip Hypocalcemia Short ribs Facial cleft Aplasia/Hypoplasia of the radius Hepatic fibrosis Hypoplasia of dental enamel Trismus Abnormality of the cervical spine Omphalocele Abnormality of the lower limb Abnormality of the metaphysis Fine hair Bicornuate uterus Hypotelorism Limb undergrowth Aqueductal stenosis Gastroschisis Abnormal nasal morphology Thin nail Renal magnesium wasting Interstitial pneumonitis Wormian bones Respiratory insufficiency Hip contracture Respiratory distress Short femoral neck Proximal placement of thumb Clitoral hypertrophy Polycystic kidney dysplasia Hemangioma Sandal gap Opacification of the corneal stroma Knee flexion contracture Synostosis of carpal bones Bilateral single transverse palmar creases Bowing of the long bones Blue sclerae Underdeveloped nasal alae Falls Corneal opacity Telecanthus Polyhydramnios Glaucoma Brachycephaly Hydrocephalus Underdeveloped supraorbital ridges External ear malformation Microphthalmia Aplasia of the ulna Premature separation of centromeric heterochromatin Low-set ears Midface capillary hemangioma Tetraphocomelia Feeding difficulties Mesomelic arm shortening Progressive flexion contractures Delayed speech and language development Absent earlobe Facial hemangioma Complete duplication of thumb phalanx Ventricular septal defect Severe intrauterine growth retardation Wrist flexion contracture Humeroradial synostosis Talipes equinovarus Long penis Subvalvular aortic stenosis Patellar aplasia Abnormality of the upper limb Fair hair Low hanging columella Capillary hemangioma Upper limb undergrowth Thrombocytopenia Syndactyly Short nail Short palm Sparse body hair Glycosuria Calf muscle hypertrophy Hyperinsulinemia Reduced bone mineral density Neoplasm of the skin Finger clinodactyly Mitral valve prolapse Hip dysplasia Limitation of joint mobility Hepatic steatosis Thin vermilion border Insulin-resistant diabetes mellitus Congenital cataract Hip dislocation Toe syndactyly Pes planus Polymicrogyria Malformation of the hepatic ductal plate Broad distal phalanges of all fingers Incisional hernia Hearing impairment Broad toe Tubulointerstitial abnormality Wide mouth Camptodactyly Short neck Fasting hyperinsulinemia Midface retrusion Intrauterine growth retardation Patent ductus arteriosus Hypertelorism Abnormality of circulating leptin level Sclerosis of hand bone Patchy hypo- and hyperpigmentation Progressive clavicular acroosteolysis Intervertebral disc degeneration Neoplasm of the thyroid gland Abnormality of the Achilles tendon Aortic valve calcification Fragile nails Neoplasm of the breast Generalized lipodystrophy Abnormal hair quantity Exercise-induced myalgia Agenesis of corpus callosum Skeletal dysplasia Conductive hearing impairment Cleft lip Low-set, posteriorly rotated ears Prominent superficial veins Osteolytic defects of the phalanges of the hand Paralysis Sarcoma Photophobia Down-sloping shoulders Puberty and gonadal disorders Primary testicular failure Sclerodactyly Testicular dysgenesis Wide nasal base Poor wound healing Elevated circulating luteinizing hormone level Abnormality of the ovary Elevated circulating follicle stimulating hormone level Sparse pubic hair Poikiloderma Short clavicles Thyroid hemiagenesis Thoracic scoliosis Bilateral cryptorchidism Tricuspid regurgitation Bilateral ptosis Precocious puberty Polycystic ovaries Short chin Telangiectasia Abnormality of the genital system Atrial fibrillation Amenorrhea Myofiber disarray Aplasia of the phalanges of the 3rd toe Wide nose Goiter Menstrual irregularities Adrenocorticotropic hormone deficiency Male hypogonadism Prolactin excess Increased circulating gonadotropin level Growth hormone excess Hyperthyroidism Pericardial effusion Impotence Hypokalemia Easy fatigability Cranial nerve paralysis Tremor Hypogonadotrophic hypogonadism Gynecomastia Diplopia Progressive visual loss Hypotension Infertility Nausea and vomiting Pallor Weight loss Headache Vomiting Blindness Abnormality of the skin Arachnodactyly Supraventricular arrhythmia Acanthosis nigricans Hypergranulosis Onycholysis Reduced ejection fraction Clubbing of fingers Woolly hair Ventricular extrasystoles Curly hair Fragile skin Right bundle branch block Akinesia Brittle hair Cardiac arrest Right ventricular cardiomyopathy Long eyelashes Epidermal acanthosis Abnormal blistering of the skin Syncope Sudden cardiac death Sepsis Palmoplantar keratoderma Nail dystrophy Erythema Dyspnea Abnormal heart morphology T-wave inversion Abnormality of hair texture Abnormality of the intrahepatic bile duct Reduced subcutaneous adipose tissue Aortic atherosclerosis Pulmonary carcinoid tumor Loss of eyelashes Coronary artery stenosis Papillary renal cell carcinoma Mitral valve calcification Squamous cell carcinoma of the skin Alopecia universalis Premature skin wrinkling Absent eyelashes Aortic root aneurysm Basal cell carcinoma Acantholysis Emphysema Absent eyebrow Intracranial hemorrhage Hypercholesterolemia Ventricular hypertrophy Abnormal morphology of right ventricular trabeculae Ventricular flutter Abnormal right ventricle morphology Paroxysmal ventricular tachycardia Right ventricular dilatation Prolonged QRS complex Abnormal T-wave Hemianopia Abnormality of the menstrual cycle High forehead Carcinoma Breast carcinoma Macular degeneration Type I diabetes mellitus Hoarse voice Insulin resistance Decreased testicular size Coma Hypopigmentation of the skin Small hand Leukemia Retinopathy Rod-cone dystrophy Myelodysplasia Behavioral abnormality Peripheral neuropathy Visual impairment Aplasia of the fingers Adactyly Abnormal isoelectric focusing of serum transferrin Reduced antithrombin III activity Type I transferrin isoform profile Aplasia/Hypoplasia of the nipples Congenital hepatic fibrosis Hypoketotic hypoglycemia Dermal atrophy Polydipsia Epileptic spasms Cutaneous melanoma Pectus excavatum Anteverted nares Frontal bossing Myopia Epicanthus Acral lentiginous melanoma Aplasia/Hypoplasia of the testes Gastrointestinal carcinoma Poliosis Soft tissue sarcoma Chorioretinitis Narrow nasal ridge Polyuria Arteriosclerosis Enlarged joints Thyroid carcinoma Slender build Posterior subcapsular cataract Pulmonary artery stenosis Premature loss of teeth Subcapsular cataract Myeloid leukemia Polyphagia High pitched voice Squamous cell carcinoma Myocarditis Microcytic anemia Oculomotor nerve palsy Periodic hypokalemic paresis Muscle weakness Thyroid crisis Heteronymous hemianopia Abnormality of hair density Abnormal visual field test Internal ophthalmoplegia Fourth cranial nerve palsy Enlarged pituitary gland Cranial nerve VI palsy Euthyroid hyperthyroxinemia Abnormality of the pituitary gland Erectile abnormalities Cognitive impairment Bitemporal hemianopia Decreased fertility in males Adrenocorticotropin deficient adrenal insufficiency Female hypogonadism Central adrenal insufficiency Increased thyroid-stimulating hormone level Decreased circulating ACTH level Sudden loss of visual acuity Decreased female libido Decreased fertility in females Secondary growth hormone deficiency Muscular hypotonia Splenomegaly Neurodevelopmental delay Postnatal microcephaly Abnormality of coagulation Bilateral talipes equinovarus Ventricular fibrillation Erythroderma Sacral dimple Leukopenia Severe muscular hypotonia Sparse eyelashes Recurrent pneumonia Aspiration Bradycardia Inflammatory abnormality of the skin Absent speech Hypsarrhythmia Abnormal bleeding Tetraplegia Neutropenia Ichthyosis Dry skin Apnea Myalgia Elevated hepatic transaminase Hypoglycemia Cerebral cortical atrophy Elevated serum creatine phosphokinase Hypoplasia of first ribs



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