Congestive heart failure, and Sparse and thin eyebrow

Diseases related with Congestive heart failure and Sparse and thin eyebrow

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


Top matches:

High 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

High 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

High match LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4; CGL4


Congenital generalized lipodystrophy type 4 combines the phenotype of classic Berardinelli-Seip lipodystrophy (OMIM ) with muscular dystrophy and cardiac conduction anomalies (Hayashi et al., 2009).For a general description and a discussion of genetic heterogeneity of congenital generalized lipodystrophy, see CGL1 (OMIM ).

LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4; CGL4 Is also known as berardinelli-seip congenital lipodystrophy, type 4, with muscular dystrophy|lipodystrophy, berardinelli-seip congenital, type 4, with muscular dystrophy

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Failure to thrive


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4; CGL4

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Other less relevant matches:

High match MUCOLIPIDOSIS TYPE II


Mucolipidosis II (MLII) is a slowly progressive lysosomal disorder characterized by growth retardation, skeletal abnormalities, facial dysmorphism, stiff skin, developmental delay and cardiomegaly.

MUCOLIPIDOSIS TYPE II Is also known as i-cell disease|ml ii|mucolipidosis ii|n-acetylglucosamine 1-phosphotransferase deficiency|mucolipidosis type ii alpha/beta|ml ii alpha/beta|icd

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MUCOLIPIDOSIS TYPE II

High match HUTCHINSON-GILFORD PROGERIA SYNDROME


Hutchinson-Gilford progeria syndrome is a rare, fatal, autosomal dominant and premature aging disease, beginning in childhood and characterized by growth reduction, failure to thrive, a typical facial appearance (prominent forehead, protuberant eyes, thin nose with a beaked tip, thin lips, micrognathia and protruding ears) and distinct dermatologic features (generalized alopecia, aged-looking skin, sclerotic and dimpled skin over the abdomen and extremities, prominent cutaneous vasculature, dyspigmentation, nail hypoplasia and loss of subcutaneous fat).

HUTCHINSON-GILFORD PROGERIA SYNDROME Is also known as progeria|hgps

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Scoliosis
  • Growth delay


SOURCES: OMIM ORPHANET MENDELIAN

More info about HUTCHINSON-GILFORD PROGERIA SYNDROME

Medium 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

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 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 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 and thin eyebrow

Symptoms // Phenotype % cases
Cardiomyopathy Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Failure to thrive Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Cardiomegaly Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Thin skin Aplasia/Hypoplasia of the eyebrow Lipoatrophy Hyperkeratosis Alopecia Scoliosis Hypertension Micrognathia Hepatic steatosis Hepatomegaly Abnormality of the skeletal system Growth delay Generalized hypotonia Osteopenia Global developmental delay Aortic valve stenosis Ventricular tachycardia Joint stiffness Hypertriglyceridemia Splenomegaly Dilatation Arrhythmia Dilated cardiomyopathy Growth hormone deficiency Absent eyelashes Strabismus Heart murmur Abnormality of the thorax Tachycardia Premature graying of hair Abnormality of the pulmonary artery Ichthyosis Palpitations Malar flattening Hypertrophic cardiomyopathy Aspiration Kyphosis Hernia Sudden cardiac death Nail dystrophy Fragile nails Erythema Prominent superficial veins Feeding difficulties Talipes equinovarus Absent eyebrow Osteoporosis Hyperinsulinemia Atherosclerosis Palmoplantar keratoderma Hip dislocation Seizures Hearing impairment Sparse hair Woolly hair Pain Alopecia of scalp Lack of skin elasticity Decreased body weight Hypotrichosis Acanthosis nigricans Cyanosis Exertional dyspnea

Rare Symptoms - Less than 30% cases


Hypermetropia Protuberant abdomen Conductive hearing impairment Midface retrusion Exercise-induced myalgia Secondary amenorrhea Generalized lipodystrophy Atlantoaxial dislocation Fasting hyperinsulinemia Carious teeth Ataxia Prominent forehead Reduced subcutaneous adipose tissue Hypogonadism Neoplasm Ventricular hypertrophy Proptosis Insulin resistance Hemiparesis Mitral valve calcification Hyperlipidemia Delayed gross motor development Microtia Reduced bone mineral density Lipodystrophy Failure to thrive in infancy Abnormal palate morphology Prolonged QT interval Depressed nasal bridge Abnormal facial shape Anteverted nares Delayed puberty Myocardial infarction Split hand Thickened skin Scleroderma Ovoid vertebral bodies Premature ovarian insufficiency Intracranial hemorrhage Short nose Metaphyseal widening Hip dysplasia Cataract Increased bone mineral density Abnormal heart valve morphology Relative macrocephaly Abnormality of the dentition Hypercholesterolemia Macrocephaly Narrow forehead Abnormality of the cardiovascular system Epicanthus High forehead Skeletal muscle atrophy Blindness Long philtrum Thin vermilion border Inguinal hernia Cavernous hemangioma Abnormal EKG Coarse facial features Abnormality of cardiovascular system morphology Hypoplasia of the zygomatic bone Umbilical hernia Chest pain Limitation of joint mobility Respiratory tract infection Convex nasal ridge Retinal degeneration Short palm Abnormality of the testis Osteolytic defects of the phalanges of the hand Macrotia Coronary artery atherosclerosis Ventricular septal defect Downslanted palpebral fissures Elevated serum creatine phosphokinase Abnormality of hair texture Delayed speech and language development Low-set ears Ptosis Cryptorchidism Low-set, posteriorly rotated ears Neurodevelopmental delay Hyperglycemia Ventricular fibrillation Prematurely aged appearance Flexion contracture Sparse eyelashes Recurrent pneumonia Bradycardia Nystagmus Muscle weakness Inflammatory abnormality of the skin Premature skin wrinkling Muscular hypotonia Abnormal bleeding Dry skin Myalgia Elevated hepatic transaminase Curly hair Right ventricular cardiomyopathy Dysphagia Neonatal hypotonia Hydrocephalus Long eyelashes Sparse scalp hair Pruritus Epidermal acanthosis Posteriorly rotated ears Syncope Diabetes mellitus Cleft upper lip Dyspnea Premature birth Hyperhidrosis Dental malocclusion Abnormal heart morphology Ventricular arrhythmia Cerebral cortical atrophy Constipation Right bundle branch block Vomiting Brittle hair Delayed skeletal maturation Depressivity Abnormality of the ulna Encephalopathy Pectus excavatum Gastroesophageal reflux Abnormality of the gastrointestinal tract Long palpebral fissure Autism Feeding difficulties in infancy Abnormality of the sternum Irritability Short attention span Scarring Infantile spasms Clinodactyly of the 5th finger Abnormality of the kidney Arnold-Chiari type I malformation Thick upper lip vermilion Abnormal eyelash morphology Telecanthus Atopic dermatitis Poor appetite Underdeveloped supraorbital ridges Abnormal hair pattern Anal stenosis Polyhydramnios EEG abnormality Generalized hyperpigmentation Enlarged kidney Aggressive behavior Abnormality of the eye Hydronephrosis Biparietal narrowing Multiple cafe-au-lait spots Submucous cleft hard palate Progressive visual loss Neurofibromas Sleep disturbance Palmoplantar hyperkeratosis Bruising susceptibility Optic nerve hypoplasia Retinal dystrophy Thick vermilion border Abnormality of the genitourinary system Sleep apnea Hemangioma Aplasia/Hypoplasia of the corpus callosum High, narrow palate Cutis laxa Oculomotor apraxia Narrow palate Abnormality of the nail Abnormality of vision Cerebral visual impairment Hyperpigmentation of the skin Abdominal distention Lymphedema Full cheeks Nevus Cafe-au-lait spot Open mouth Vesicoureteral reflux Fine hair Intestinal malrotation Low posterior hairline Webbed neck Bulbous nose Poor suck Abnormal cardiac septum morphology Genu valgum Hydroureter Malnutrition Pectus carinatum Open bite Leukemia Coarctation of aorta Obsessive-compulsive behavior Neurological speech impairment Chronic otitis media Dolichocephaly Cubitus valgus Abnormality of the cerebral white matter Pulmonic stenosis Astigmatism Falls Peripheral axonal neuropathy Abnormality of skin pigmentation Long face Melanocytic nevus Ectropion Joint hypermobility Pleural effusion Scaling skin Sparse eyebrow Bilateral ptosis Redundant skin Deep philtrum Hyperextensible skin Large for gestational age Skin ulcer Dystrophic fingernails Polymicrogyria Skeletal dysplasia Cleft lip Camptodactyly Wide mouth Prominent nasal bridge Toe syndactyly Hypoplasia of the maxilla Agenesis of corpus callosum Tetralogy of Fallot Congenital diaphragmatic hernia Choanal atresia Aganglionic megacolon Short thumb Preauricular skin tag Retrognathia Patent ductus arteriosus Hypoplasia of the radius Patchy hypo- and hyperpigmentation Subcutaneous calcification Neoplasm of the thyroid gland Intervertebral disc degeneration Premature arteriosclerosis Neoplasm of the oral cavity Progressive clavicular acroosteolysis Sclerosis of hand bone Clinodactyly Abnormality of circulating leptin level Microcephaly Cleft palate Brachydactyly Respiratory insufficiency Respiratory distress Syndactyly Short toe Atrioventricular block Abnormality of the Achilles tendon Foot oligodactyly Aqueductal stenosis Phocomelia Gastroschisis Abnormal nasal morphology Abnormality of the cervical spine Mandibulofacial dysostosis Velopharyngeal insufficiency Abnormality of the lower limb Hypoplasia of the epiglottis Hemifacial hypoplasia Laryngeal hypoplasia Short distal phalanx of the thumb Absent toe Lower eyelid coloboma Sparse lower eyelashes Bicornuate uterus Trismus Atresia of the external auditory canal Spastic diplegia Radioulnar synostosis Urticaria Triphalangeal thumb Unilateral renal agenesis Radial deviation of finger Overlapping toe Hallux valgus Absent radius Broad hallux Limited elbow extension Non-midline cleft lip Absent thumb Aplasia/Hypoplasia of the thumb Facial cleft Aplasia/Hypoplasia of the radius Neoplasm of the small intestine Abnormal hair whorl Abnormality of the optic nerve Functional abnormality of the gastrointestinal tract Abnormal tricuspid valve morphology Patchy alopecia Optic nerve dysplasia Hypoplasia of the frontal lobes Generalized ichthyosis Laryngeal cleft Tongue thrusting Anterior creases of earlobe Hyperkeratosis pilaris Abnormality of the hairline Abnormal location of ears Puberty and gonadal disorders Morphological abnormality of the gastrointestinal tract Cutaneous T-cell lymphoma Abnormality of the optic disc Frontal balding Abnormality of the auditory canal Slow-growing hair Delayed CNS myelination Abnormal myocardium morphology Abnormality of refraction Deep palmar crease Gastrointestinal dysmotility Abnormal mitral valve morphology Thickened helices Endocarditis Subvalvular aortic stenosis Abnormal aortic valve morphology Hyperextensibility of the finger joints Excessive wrinkled skin Multiple lentigines Sparse or absent eyelashes Increased nuchal translucency Inappropriate crying Multiple palmar creases Aortic valve calcification Renal neoplasm Sparse body hair Ovarian neoplasm Insulin-resistant diabetes mellitus Neoplasm of the lung Progeroid facial appearance Meningioma Osteosarcoma Glycosuria Abnormality of the cerebral vasculature Peripheral arterial stenosis Pili torti Chondrocalcinosis White forelock Abnormal hair quantity Neoplasm of the breast Telangiectasia of the skin Aplasia/Hypoplasia of the skin Eyelid fasciculation Abnormality of retinal pigmentation Multiple plantar creases Oral aversion Pes planus Congenital cataract Mitral valve prolapse Type II diabetes mellitus Abnormality of the hair Decreased fertility Narrow face Finger clinodactyly Neoplasm of the skin Laryngomalacia Abnormality of the voice Rocker bottom foot Calf muscle hypertrophy Thrombocytopenia Fatigue Cerebral atrophy Supraventricular tachycardia Abnormality of skeletal muscle fiber size Cervical spine instability Generalized muscle hypertrophy Prominent umbilicus Abnormality of upper lip Congenital generalized lipodystrophy Atlantoaxial instability Polymorphic ventricular tachycardia Abnormal levels of creatine kinase in blood Loss of subcutaneous adipose tissue in limbs Dysmenorrhea Prolonged QTc interval Ileus Progressive proximal muscle weakness Adipose tissue loss IgA deficiency Spinal rigidity Mildly elevated creatine phosphokinase Increased variability in muscle fiber diameter Cutis marmorata Skeletal muscle hypertrophy Prominent supraorbital ridges Pyloric stenosis Polycystic ovaries Pancreatitis Accelerated skeletal maturation Recurrent bacterial infections Exercise intolerance Muscle mounding Pneumonia Muscle stiffness Corneal dystrophy Corneal erosion Diastasis recti Radial bowing Severe postnatal growth retardation Megalocornea Palpebral edema Hypoplasia of the odontoid process Thickened calvaria Vertebral fusion Pathologic fracture Pericardial effusion Flared metaphysis Short long bone Aortic regurgitation Recurrent respiratory infections Opacification of the corneal stroma Generalized hirsutism Congenital hip dislocation Hoarse voice Gingival overgrowth Recurrent otitis media Wide intermamillary distance Brain atrophy Macroglossia Severe global developmental delay Joint laxity Weight loss Severe short stature Pointed chin Atrial fibrillation Recurrent bronchitis Acantholysis Neutropenia Apnea Hypoglycemia Absent speech Renal insufficiency Cognitive impairment Abnormal morphology of right ventricular trabeculae Ventricular flutter Abnormal right ventricle morphology Paroxysmal ventricular tachycardia Right ventricular dilatation Prolonged QRS complex Abnormal T-wave T-wave inversion Hypsarrhythmia Hypergranulosis Onycholysis Reduced ejection fraction Clubbing of fingers Ventricular extrasystoles Fragile skin Akinesia Cardiac arrest Abnormal blistering of the skin Ectodermal dysplasia Sepsis Vertigo Respiratory failure Tetraplegia Postnatal microcephaly Generalized muscle weakness Aplasia of the fingers Hirsutism Spastic paraplegia Muscular dystrophy Distal muscle weakness Protruding ear Postnatal growth retardation Hyperlordosis Proximal muscle weakness Rigidity Hepatosplenomegaly Hypothyroidism Recurrent infections Myopathy Adactyly Severe muscular hypotonia 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 Myocarditis Epileptic spasms Microcytic anemia Abnormality of coagulation Bilateral talipes equinovarus Erythroderma Sacral dimple Leukopenia Flat acetabular roof Hypoplastic scapulae Behavioral abnormality Craniofacial disproportion Bundle branch block Loss of consciousness Reduced number of teeth Oligodontia Tapering pointed ends of distal finger phalanges Arteriosclerosis of small cerebral arteries Regional abnormality of skin Abnormal trabecular bone morphology Insulin-resistant diabetes mellitus at puberty Absence of pubertal development Carotid artery stenosis Narrow nasal tip Bilateral coxa valga Old-aged sensorineural hearing impairment Agenesis of permanent teeth Reticulated skin pigmentation Hypoplastic facial bones Prominent scalp veins Bird-like facies Parietal bossing Widely patent fontanelles and sutures Intermittent claudication Corneal arcus Sinus tachycardia Decreased testosterone in males Premature coronary artery atherosclerosis Thin nail Absence of subcutaneous fat Hypokinesia Parakeratosis Aplastic clavicle Aortic atherosclerosis Hypertonia Intellectual disability, severe Edema Atrial septal defect Short neck Ventriculomegaly Frontal bossing Optic atrophy Myopia Dysarthria High palate Hypertelorism Abnormality of the intrahepatic bile duct Pulmonary carcinoid tumor Myocardial fibrosis Loss of eyelashes Coronary artery stenosis Papillary renal cell carcinoma Squamous cell carcinoma of the skin Alopecia universalis Aortic root aneurysm Basal cell carcinoma Emphysema Mitral regurgitation Agenesis of molar Gingival recession Reduced systolic function Selective tooth agenesis Leukonychia Hip pain Narrow nasal ridge Dysostosis multiplex Progressive alveolar ridge hypertropy Nail dysplasia Hypodontia Delayed eruption of teeth Infertility Narrow chest Stroke Carcinoma Narrow mouth Dementia Sensorineural hearing impairment Lower thoracic interpediculate narrowness Beaking of vertebral bodies T12-L3 Varus deformity of humeral neck Bullet-shaped phalanges of the hand Broad-based gait Deficiency of N-acetylglucosamine-1-phosphotransferase Increased serum iduronate sulfatase activity Increased serum beta-hexosaminidase Urinary glycosaminoglycan excretion Thoracolumbar kyphoscoliosis Large sella turcica Broad alveolar ridges Mucopolysacchariduria Abnormality of nervous system morphology Carpal bone hypoplasia Myelopathy Abnormality of the rib cage Flared iliac wings Osteoarthritis Left ventricular hypertrophy Arteriosclerosis Thrombocytosis Carcinoid tumor Prolonged prothrombin time Decreased serum estradiol Thin bony cortex Enlarged joints Precocious atherosclerosis Aplasia/Hypoplasia of the earlobes Small face Generalized osteoporosis Angina pectoris Hyperphosphatemia Down-sloping shoulders Transient ischemic attack Short clavicles Dental crowding Renal cell carcinoma Hypoplastic nipples Keratoconjunctivitis sicca Thin ribs High pitched voice Multiple joint contractures Nasal speech Dermal atrophy Osteolysis Aminoaciduria Coxa valga Hypogonadotrophic hypogonadism Hypergonadotropic hypogonadism Hypohidrosis Hypoplasia of first ribs



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