Congestive heart failure, and Pruritus

Diseases related with Congestive heart failure and Pruritus

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


Top matches:

Medium match PRIMARY SCLEROSING CHOLANGITIS


Primary sclerosing cholangitis (PSC) is a rare, slowly progressive liver disease characterized by inflammation and destruction of the intra- and/or extra-hepatic bile ducts that lead to cholestasis, liver fibrosis, liver cirrhosis and ultimately liver failure.

PRIMARY SCLEROSING CHOLANGITIS Is also known as psc

Related symptoms:

  • Pain
  • Hypertension
  • Hepatomegaly
  • Fever
  • Fatigue


SOURCES: ORPHANET OMIM MENDELIAN

More info about PRIMARY SCLEROSING CHOLANGITIS

Low match PSEUDOXANTHOMA ELASTICUM


Pseudoxanthoma elasticum (PXE) is an inherited connective tissue disorder characterized by progressive calcification and fragmentation of elastic fibers in the skin, retina, and arterial walls.

PSEUDOXANTHOMA ELASTICUM Is also known as pxe|gronblad-strandberg-touraine syndrome|gronblad-strandberg syndrome

Related symptoms:

  • Scoliosis
  • Growth delay
  • High palate
  • Visual impairment
  • Hypertension


SOURCES: ORPHANET OMIM MENDELIAN

More info about PSEUDOXANTHOMA ELASTICUM

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Other less relevant matches:

Low match ALAGILLE SYNDROME 1; ALGS1


Alagille syndrome is an autosomal dominant disorder that traditionally has been defined by a paucity of intrahepatic bile ducts, in association with 5 main clinical abnormalities: cholestasis, cardiac disease, skeletal abnormalities, ocular abnormalities, and a characteristic facial phenotype (Li et al., 1997). Cholestasis is a direct consequence of the paucity of bile ducts. About 39% of patients also have renal involvement, mainly renal dysplasia (Kamath et al., 2012).Turnpenny and Ellard (2012) reviewed the clinical features, diagnosis, pathogenesis, and genetics of Alagille syndrome. Genetic Heterogeneity of Alagille SyndromeAnother form of Alagille syndrome (ALGS2 ) is caused by mutation in the NOTCH2 gene (OMIM ).

ALAGILLE SYNDROME 1; ALGS1 Is also known as algs|alagille-watson syndrome|alagille syndrome|hepatic ductular hypoplasia, syndromatic|arteriohepatic dysplasia|aws|cholestasis with peripheral pulmonary stenosis|ahd

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Growth delay


SOURCES: OMIM ORPHANET MENDELIAN

More info about ALAGILLE SYNDROME 1; ALGS1

Low match FABRY DISEASE


Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations.

FABRY DISEASE Is also known as ceramide trihexosidase deficiency|hereditary dystopic lipidosis|fd|alpha-galactosidase a deficiency|diffuse angiokeratoma|gla deficiency|angiokeratoma corporis diffusum|anderson-fabry disease

Related symptoms:

  • Seizures
  • Short stature
  • Hearing impairment
  • Sensorineural hearing impairment
  • Pain


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about FABRY DISEASE

Low match PRADER-WILLI SYNDROME; PWS


Prader-Willi syndrome is characterized by diminished fetal activity, obesity, muscular hypotonia, mental retardation, short stature, hypogonadotropic hypogonadism, and small hands and feet. It can be considered to be an autosomal dominant disorder and is caused by deletion or disruption of a gene or several genes on the proximal long arm of the paternal chromosome 15 or maternal uniparental disomy 15, because the gene(s) on the maternal chromosome(s) 15 are virtually inactive through imprinting. Horsthemke and Wagstaff (2008) provided a detailed review of the mechanisms of imprinting of the Prader-Willi/Angelman syndrome (OMIM ) region.See also the chromosome 15q11-q13 duplication syndrome (OMIM ), which shows overlapping clinical features.

PRADER-WILLI SYNDROME; PWS Is also known as prader-labhart-willi syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about PRADER-WILLI SYNDROME; PWS

Low match MELAS


MELAS (Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke) syndrome is a rare progressive multisystemic disorder characterized by encephalomyopathy, lactic acidosis, and stroke-like episodes. Other features include endocrinopathy, heart disease, diabetes, hearing loss, and neurological and psychiatric manifestations.

MELAS Is also known as mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes|melas syndrome|mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MELAS

Low 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 POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY; PGBM1


Polyglucosan body myopathy-1 is an autosomal recessive disorder characterized by onset in childhood of progressive proximal muscle weakness, resulting in difficulties in ambulation. Most patients also develop progressive dilated cardiomyopathy, which may necessitate cardiac transplant in severe cases. A small subset of patients present with severe immunodeficiency and a hyperinflammatory state in very early childhood (summary by Boisson et al., 2012 and Nilsson et al., 2013). Genetic Heterogeneity of Polyglucosan Body MyopathySee also PGBM2 (OMIM ), caused by mutation in the GYG1 gene (OMIM ) on chromosome 3q24.

POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY; PGBM1 Is also known as polyglucosan body myopathy, early-onset, with or without immunodeficiency|pbmei

Related symptoms:

  • Scoliosis
  • Growth delay
  • Failure to thrive
  • Muscle weakness
  • Ptosis


SOURCES: OMIM MENDELIAN

More info about POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY; PGBM1

Low match NEUTRAL LIPID STORAGE MYOPATHY


Neutral lipid storage disease with myopathy is an autosomal recessive muscle disorder characterized by adult onset of slowly progressive proximal muscle weakness affecting the upper and lower limbs and associated with increased serum creatine kinase; distal muscle weakness may also occur. About half of patients develop cardiomyopathy later in the disease course. Other variable features include diabetes mellitus, hepatic steatosis, hypertriglyceridemia, and possibly sensorineural hearing loss. Leukocytes and muscle cells show cytoplasmic accumulation of triglycerides (summary by Reilich et al., 2011).Neutral lipid storage disease with myopathy belongs to a group of disorders termed neutral lipid storage disorders (NLSDs). These disorders are characterized by the presence of triglyceride-containing cytoplasmic droplets in leukocytes and in other tissues, including bone marrow, skin, and muscle. Chanarin-Dorfman syndrome (CDS ) is defined as NLSD with ichthyosis (NLSDI). Patients with NLSDM present with myopathy but without ichthyosis (summary by Fischer et al., 2007).

NEUTRAL LIPID STORAGE MYOPATHY Is also known as neutral lipid storage disease with myopathy without ichthyosis|nlsdm|triglyceride deposit cardiomyovasculopathy|neutral lipid storage disease without ichthyosis

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Sensorineural hearing impairment
  • Muscle weakness


SOURCES: ORPHANET OMIM MENDELIAN

More info about NEUTRAL LIPID STORAGE MYOPATHY

Top 5 symptoms//phenotypes associated to Congestive heart failure and Pruritus

Symptoms // Phenotype % cases
Cardiomyopathy Common - Between 50% and 80% cases
Pain Common - Between 50% and 80% cases
Growth delay Common - Between 50% and 80% cases
Hypertension Common - Between 50% and 80% cases
Hepatomegaly Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Short stature

Uncommon Symptoms - Between 30% and 50% cases


Failure to thrive Renal insufficiency Dilatation Hearing impairment Stroke Abnormality of the cardiovascular system Myalgia Vomiting Seizures Myopia Delayed puberty Scoliosis Intellectual disability Myopathy Scarring Abnormality of the liver Elevated hepatic transaminase Depressivity Global developmental delay Fatigue Fever Cataract Edema Sudden cardiac death Ichthyosis Easy fatigability Behavioral abnormality Constipation Peripheral arterial stenosis Hypertrophic cardiomyopathy Telangiectasia of the skin Ischemic stroke Exercise intolerance Myocardial infarction Delayed skeletal maturation Ptosis Abnormality of skin pigmentation Hypothyroidism Visual loss Blindness Areflexia Intrauterine growth retardation High palate Generalized hypotonia Nystagmus Muscular hypotonia Abnormal mitral valve morphology Cognitive impairment Optic atrophy Erythema Prominent forehead Depressed nasal bridge Cryptorchidism Arrhythmia Strabismus Micrognathia Hyperkeratosis Neoplasm Hypertelorism Dilated cardiomyopathy Ventriculomegaly Carious teeth Coarse facial features Abnormality of the kidney Malabsorption Specific learning disability Nephrotic syndrome Lymphedema Heart murmur Muscle weakness Sensorineural hearing impairment Feeding difficulties Gastrointestinal hemorrhage Abdominal pain Encephalopathy Weight loss Bundle branch block Hepatosplenomegaly Diabetes mellitus Autism Osteoporosis Jaundice Kyphosis Osteopenia Abnormality of the dentition Elevated serum creatine phosphokinase

Rare Symptoms - Less than 30% cases


Malnutrition Hepatic steatosis Anemia Renal tubular acidosis Glomerulosclerosis Corneal dystrophy Cerebral cortical atrophy Respiratory insufficiency Peripheral neuropathy Growth hormone deficiency Full cheeks Diarrhea Sleep disturbance Headache Polymicrogyria Posteriorly rotated ears Hemiparesis Hyperhidrosis Dyspnea Dysarthria Anxiety Proteinuria Abnormality of the nervous system Hypertriglyceridemia Cerebral atrophy Coarctation of aorta Neurological speech impairment Clinodactyly of the 5th finger Hypogonadotrophic hypogonadism Upslanted palpebral fissure Acidosis Peripheral axonal neuropathy Insulin resistance Psychosis Macrotia Type II diabetes mellitus Narrow forehead Amenorrhea Failure to thrive in infancy Feeding difficulties in infancy Pigmentary retinopathy EEG abnormality Ataxia Hip dysplasia Gastroesophageal reflux Carcinoma Adrenal insufficiency Protruding ear Pulmonic stenosis Anal atresia Stage 5 chronic kidney disease Hypopigmentation of the skin Vesicoureteral reflux Developmental regression Genu valgum Nausea and vomiting Hypermetropia Abnormal myocardium morphology Abnormality of lipid metabolism Xerostomia Photophobia Transient ischemic attack Decreased body weight Renal tubular dysfunction Cerebral visual impairment Dysphagia Tubulointerstitial nephritis Hypogonadism Short neck Hypertonia Abnormality of the gastrointestinal tract Gastrointestinal dysmotility Abnormal heart valve morphology Abnormal aortic valve morphology Abnormality of the renal tubule Dysesthesia Atopic dermatitis Bilateral ptosis Functional abnormality of the gastrointestinal tract Pulmonary embolism Hyporeflexia Obesity Short nose Delayed speech and language development Motor delay Epicanthus Skeletal muscle atrophy Glomerulopathy Abnormality of the cerebral white matter Anorexia Intellectual disability, severe Paresthesia Vertigo Nausea Bulbous nose Thick vermilion border Nephropathy Muscle cramps Abdominal distention Ventricular hypertrophy Atrial fibrillation Left ventricular hypertrophy Dolichocephaly Bradycardia Progressive sensorineural hearing impairment Fasciculations Spontaneous abortion Leukemia Purpura Attention deficit hyperactivity disorder Hyperlipidemia Respiratory tract infection Abnormality of the pinna Atrioventricular block Chronic kidney disease Sleep apnea Hemiplegia Personality changes Apnea Poor suck Psychotic episodes Clinodactyly Cerebral calcification Pleural effusion Portal hypertension Recurrent infections Proximal muscle weakness Pancreatitis Type I diabetes mellitus Cholestasis Mitral valve prolapse Progressive muscle weakness Abnormal endocardium morphology Cirrhosis Psoriasiform dermatitis Splenomegaly Postural instability Progressive proximal muscle weakness Hemiplegia/hemiparesis Myocardial fibrosis Woolly hair Inflammation of the large intestine Mitral regurgitation Abnormal EKG Redundant skin Tricuspid regurgitation Coronary artery atherosclerosis Chronic hepatic failure Chorioretinal atrophy Multiple lipomas Vitamin D deficiency Striae distensae Cholestatic liver disease Hyperextensible skin Excessive wrinkled skin Hepatocellular carcinoma Cutis laxa Thyroiditis Angina pectoris Macular degeneration Restrictive cardiomyopathy Celiac disease Arterial stenosis Subcutaneous nodule Papule Bruising susceptibility Palpitations Abnormal facial shape Tachycardia Loss of consciousness Nail dystrophy Visual impairment Chest pain Aplasia/Hypoplasia of the eyebrow Abnormality of cardiovascular system morphology Syncope Palmoplantar keratoderma Intellectual disability, mild Absent eyebrow Downslanted palpebral fissures Atrial septal defect Ventricular septal defect Ventricular tachycardia Skin rash Frontal bossing Retinopathy Cardiomegaly Hyperkeratotic papule Schizophrenia Hyperkinesis Heart block Goiter Abnormal tricuspid valve morphology Mutism Vitiligo Vertebral fusion Hypopigmented skin patches Growth abnormality Hypoparathyroidism Ragged-red muscle fibers Mitochondrial myopathy Progressive external ophthalmoplegia Reduced tendon reflexes External ophthalmoplegia Generalized hirsutism EMG abnormality Posterior subcapsular cataract Delusions Laryngeal cleft Abnormality of the optic disc Drowsiness Neonatal hypoglycemia Ophthalmoparesis Visual field defect Basal ganglia calcification Hyperkalemia Dysphasia Vestibular dysfunction Aphasia Overlapping toe Abnormality of neuronal migration Focal segmental glomerulosclerosis Mask-like facies Bifid scrotum Aplasia/Hypoplasia of the cerebellum Intestinal obstruction Hyperthyroidism Rhabdomyolysis Abnormality of visual evoked potentials Hypercalciuria Hashimoto thyroiditis Patchy alopecia Prolonged QT interval Cachexia Distal arthrogryposis Decreased nerve conduction velocity Generalized ichthyosis Hyponatremia Hypoplasia of the frontal lobes Optic nerve dysplasia Primary adrenal insufficiency Abnormality of immune system physiology Aortic aneurysm Abnormality of mitochondrial metabolism Tongue thrusting Hallucinations Hyperkeratosis pilaris Generalized tonic-clonic seizures Gait ataxia Waddling gait Mental deterioration Distal muscle weakness Nyctalopia Difficulty walking Lethargy Myoclonus Pharyngitis Arthrogryposis multiplex congenita Ophthalmoplegia Congenital cataract Dysmetria Confusion Gastrointestinal inflammation Gowers sign Dementia Lactic acidosis Hyperreflexia Narrow palm Hypopnea Almond-shaped palpebral fissure Poor gross motor coordination Acromicria Microcephaly Tremor Rod-cone dystrophy Gait disturbance Respiratory distress Cerebellar atrophy Dystonia Neck muscle weakness Difficulty running Cerebellar hypoplasia Pyelonephritis Hirsutism Abnormality of the hairline Multiple palmar creases Gingival overgrowth Abnormality of retinal pigmentation Anterior creases of earlobe Multiple plantar creases Eyelid fasciculation Clonus Cardiac arrest Immunodeficiency Abnormality of the auditory canal Inappropriate crying Cutaneous T-cell lymphoma Morphological abnormality of the gastrointestinal tract Truncal ataxia Puberty and gonadal disorders Abnormal location of ears Oral aversion Involuntary movements Polyneuropathy Migraine Recurrent pharyngitis Severe failure to thrive Coma Abnormal cerebellum morphology Leukocytosis Generalized myoclonic seizures Sensory impairment Increased serum lactate Hypertrichosis Memory impairment Generalized-onset seizure Bilateral sensorineural hearing impairment Pulmonary arterial hypertension Eczema Status epilepticus Lymphadenopathy Cardiorespiratory arrest Abnormality of peripheral nerve conduction Frontal balding Retinal dystrophy Hypotrichosis Astigmatism Dry skin Long face Anal stenosis Joint hypermobility Falls Submucous cleft hard palate Abnormal cardiac septum morphology Generalized hyperpigmentation High, narrow palate Curly hair Biparietal narrowing Abnormal bleeding Multiple cafe-au-lait spots Nevus Intestinal malrotation Pectus carinatum Sparse hair Dental malocclusion Alopecia Long philtrum Malar flattening Thrombocytopenia Hernia Pectus excavatum Abnormal heart morphology Inguinal hernia Proptosis Irritability Polyhydramnios Hypoplastic labia minora Umbilical hernia Hydronephrosis Aggressive behavior Telecanthus Low-set, posteriorly rotated ears Abnormality of the eye Premature birth Webbed neck Underdeveloped supraorbital ridges Delayed gross motor development Hemangioma Large for gestational age Obsessive-compulsive behavior Chronic otitis media Cubitus valgus Melanocytic nevus Abnormality of the genitourinary system Optic nerve hypoplasia Abnormal palate morphology Ectropion Scaling skin Sparse eyebrow Palmoplantar hyperkeratosis Abnormality of vision Brittle hair Relative macrocephaly Deep philtrum Aplasia/Hypoplasia of the corpus callosum Open bite Progressive visual loss Infantile spasms Low posterior hairline Long palpebral fissure Fine hair Inflammatory abnormality of the skin Open mouth Abnormality of the sternum Thickened skin Neurofibromas Oculomotor apraxia Cafe-au-lait spot Hyperpigmentation of the skin Neurodevelopmental delay Aspiration Abnormality of the nail Hydroureter Narrow palate Sparse eyelashes Hydrocephalus Poor appetite Facial diplegia Spontaneous hematomas Psychomotor deterioration Multiple lentigines Muscle fiber atrophy Cavernous hemangioma Writer's cramp Persistence of primary teeth Leber optic atrophy Gastroparesis Episodic vomiting Amaurosis fugax Auditory hallucinations Abnormal nerve conduction velocity Renal Fanconi syndrome Tubulointerstitial abnormality Abnormality of the cerebellar vermis Crohn's disease Abnormality of hair texture Motor polyneuropathy Sparse or absent eyelashes Abnormal macular morphology Gait imbalance Aortic dissection Visual hallucinations Endocarditis Increased CSF lactate Wolff-Parkinson-White syndrome Cerebral ischemia Reduced consciousness/confusion Anterior hypopituitarism Hemianopia Stroke-like episode Seborrheic dermatitis Left ventricular failure Speech apraxia Retinal pigment epithelial atrophy Increased nuchal translucency Proximal tubulopathy Ileus Hemeralopia Spotty hypopigmentation Alopecia of scalp Low-set ears Morphological abnormality of the inner ear Abnormality of the optic nerve Dystrophic fingernails Abnormal hair pattern Thick upper lip vermilion Prominent ear helix Short attention span Macrocephaly Bilateral intracranial calcifications Abnormality of the ulna Premature skin wrinkling Hypoplasia of the zygomatic bone Anteverted nares Absent eyelashes Enlarged kidney Arnold-Chiari type I malformation Abnormal eyelash morphology Morphological abnormality of the vestibule of the inner ear Abnormality of the testis Paronychia Abnormal mitochondrial shape Abnormal mitochondrial morphology Edema of the dorsum of hands Abnormality of the pulmonary artery Cochlear malformation Hyperextensibility of the finger joints Progressive night blindness Subvalvular aortic stenosis Cochlear degeneration Paralytic ileus Delayed CNS myelination Thickened helices Abnormal cochlea morphology Homonymous hemianopia Slow-growing hair Deep palmar crease Abnormality of acid-base homeostasis Episodic quadriplegia Abnormality of refraction High forehead Impaired renal concentrating ability Central adrenal insufficiency Abnormal form of the vertebral bodies Hypodontia Triangular face Round face Prominent nose Tetralogy of Fallot Abnormality of the ribs Renal hypoplasia Renal dysplasia Short distal phalanx of finger Exotropia Abnormal vertebral morphology Pointed chin Hemivertebrae Multicystic kidney dysplasia Finger clinodactyly Spina bifida occulta Microcornea Flat face Renal hypoplasia/aplasia Medial calcification of medium-sized arteries Generalized arterial calcification Medial calcification of large arteries Peripapillary chorioretinal atrophy Peau d'orange Subretinal fluid Erythematous papule Premature occlusive vascular stenosis Abnormal atrioventricular valve morphology Hepatic failure Medial calcification of small arteries Abnormality of the skeletal system Brachycephaly Deeply set eye Conductive hearing impairment Craniosynostosis Short philtrum Broad forehead Hypercholesterolemia Hypoplasia of the ulna Arterial calcification Butterfly vertebral arch Axenfeld anomaly Renal artery stenosis Multiple small medullary renal cysts Intrahepatic biliary atresia Unicoronal synostosis Rectourethral fistula Reduced number of intrahepatic bile ducts Midface retrusion Band keratopathy Mandibular prognathia Arthralgia Arthritis Cough Prominent nasal bridge Corneal opacity Thick eyebrow Hematuria Papillary thyroid carcinoma Biliary atresia Vertebral segmentation defect Abnormality of the vasculature Long nose Prolonged neonatal jaundice Keratoconus Abnormality of the ureter Posterior embryotoxon Exocrine pancreatic insufficiency Dilatation of the cerebral artery Pulmonary artery stenosis Abnormal anterior chamber morphology Coronal craniosynostosis Intrahepatic cholestasis Thyroid carcinoma Abnormal pupil morphology Peripheral pulmonary artery stenosis Fat malabsorption Hypopigmentation of the fundus Butterfly vertebrae Localized skin lesion Subcutaneous calcification Hypotension Abnormal eosinophil morphology Amyloidosis Uveitis Acute hepatic failure Ulcerative colitis Cholangitis Prolonged prothrombin time Histiocytosis Sclerosing cholangitis Generalized amyotrophy Vitamin E deficiency Cholangiocarcinoma Vitamin A deficiency Vitamin K deficiency Abnormal biliary tract morphology Palmar telangiectasia Elevated alkaline phosphatase of hepatic origin Polyclonal elevation of IgM Abnormality of the thyroid gland Cholelithiasis Abnormal large intestine physiology Leukonychia Oligodontia Reduced number of teeth Right bundle branch block Hypokinesia Agenesis of permanent teeth Parakeratosis Fragile nails Right ventricular cardiomyopathy Hypoalbuminemia Selective tooth agenesis Reduced systolic function Gingival recession Agenesis of molar Autoimmunity Ascites Hepatitis Hepatic fibrosis Spider hemangioma Neoplasm of the gallbladder Vascular calcification Ectopic calcification Abnormality of the cerebral vasculature Lack of skin elasticity Redundant neck skin Abnormal thrombocyte morphology Pulmonary edema Arteriosclerosis Pulmonary insufficiency Choroidal neovascularization Drusen Retinal hemorrhage Intermittent claudication Angioid streaks of the fundus Metamorphopsia Renovascular hypertension Abnormality of connective tissue Civatte bodies Accelerated atherosclerosis Mitral stenosis Thickened nuchal skin fold Recurrent systemic pyogenic infections Nephrocalcinosis Dilated superficial abdominal veins Adenocarcinoma of the large intestine Reduced visual acuity Small for gestational age Joint hyperflexibility Abnormality of the skin Blue sclerae Atherosclerosis Abnormality of the mouth Intracranial hemorrhage Abnormality of the thorax Acne Cutis marmorata Hypermelanotic macule Abnormal retinal morphology Severe vision loss Severe intrauterine growth retardation Urinary incontinence Thick lower lip vermilion Temperature instability Sepsis Infertility Arachnodactyly Short palm Downturned corners of mouth Small hand Short foot Tapered finger Esotropia Hypoglycemia Febrile seizures Oligohydramnios Decreased fetal movement Cutaneous photosensitivity Primary amenorrhea Clumsiness Aortic valve stenosis Neonatal hypotonia Thin upper lip vermilion Narrow palpebral fissure Increased glomerular filtration rate Left ventricular septal hypertrophy Tenesmus Heavy proteinuria Acroparesthesia Abnormal common carotid artery morphology Abnormal ST segment Increased carotid artery intimal medial thickness Abnormality of the common coagulation pathway Narrow mouth Abnormal glomerular filtration rate Cornea verticillata Talipes equinovarus Syndactyly Recurrent respiratory infections Hyperactivity Respiratory failure Micropenis Increased body weight Bicuspid aortic valve Abnormality of the forehead Generalized hypopigmentation Overweight Oligomenorrhea Acrocyanosis Hypoplasia of the fovea Chromosome breakage Ocular albinism Hypothermia Cor pulmonale Iris hypopigmentation Abdominal obesity Poor fine motor coordination Anteverted ears Clitoral hypoplasia Frontal upsweep of hair Erysipelas Disseminated intravascular coagulation Triangular mouth Central hypotonia Hypoventilation Scrotal hypoplasia Glucose intolerance Infantile muscular hypotonia Nasal speech Precocious puberty Hyperinsulinemia Radial deviation of finger Emotional lability Large hands Albinism Hypopigmentation of hair Skeletal muscle hypertrophy Decreased muscle mass Truncal obesity External genital hypoplasia Polyphagia Narrow nasal bridge Myeloid leukemia Impaired pain sensation Tortuosity of conjunctival vessels Abnormality of glycosphingolipid metabolism Abnormal lung morphology Oligospermia Orthostatic hypotension Glycosuria Wheezing Aortic root aneurysm Edema of the lower limbs Elevated serum creatinine Tubular atrophy Large earlobe Elevated erythrocyte sedimentation rate Supraventricular tachycardia Heat intolerance Reduced ejection fraction Clubbing of fingers Chronic obstructive pulmonary disease Achalasia Sinus bradycardia Chronic fatigue Interstitial pulmonary abnormality Impotence Abnormality of the nose Ventricular arrhythmia Hypohidrosis Abnormal autonomic nervous system physiology Aminoaciduria Aortic regurgitation Abnormal intestine morphology Progressive hearing impairment Reduced bone mineral density Tinnitus Emphysema Prominent supraorbital ridges Abnormality of the hand Polydipsia Clubbing Impaired vibratory sensation Diabetes insipidus Polyuria Anhidrosis Abnormality of femur morphology High-frequency hearing impairment ST segment depression Impaired temperature sensation Decreased glomerular filtration rate Vascular tortuosity Distal renal tubular acidosis Increased blood urea nitrogen Reduced sperm motility Angiokeratoma Obstructive lung disease Hyposthenuria Abnormality of temperature regulation Shortened QT interval Angiokeratoma corporis diffusum Decreased lacrimation Shortened PR interval Coronary artery stenosis Concentric hypertrophic cardiomyopathy Mucosal telangiectasiae Unexplained fevers Nephrogenic diabetes insipidus Limb pain Asymmetric septal hypertrophy Abnormal cornea morphology Periorbital fullness T-wave inversion Miosis Abnormal renal physiology Chronic pain Tubulointerstitial fibrosis Abnormal thrombosis Supraventricular arrhythmia Corneal crystals Conjunctival telangiectasia Microalbuminuria Primary hypothyroidism Biventricular hypertrophy Abnormality of cardiovascular system physiology Decreased female libido Vascular skin abnormality Retinal vascular tortuosity Increased muscle lipid content



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