Congestive heart failure, and Asthma

Diseases related with Congestive heart failure and Asthma

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


Top matches:

Medium match COMBINED IMMUNODEFICIENCY DUE TO LRBA DEFICIENCY


Common variable immunodeficiency-8 with autoimmunity is an autosomal recessive disorder of immune dysregulation. Affected individuals have early childhood onset of recurrent infections, particularly respiratory infections, and also develop variable autoimmune disorders, including idiopathic thrombocytopenic purpura, autoimmune hemolytic anemia, and inflammatory bowel disease. The presentation and phenotype are highly variable, even within families (summary by Lopez-Herrera et al., 2012 and Alangari et al., 2012). Immunologic findings are also variable and may include decreased B cells, hypogammaglobulinemia, and deficiency of CD4+ T regulatory (Treg) cells (Charbonnier et al., 2015).For a general description and a discussion of genetic heterogeneity of common variable immunodeficiency, see CVID1 (OMIM ).

COMBINED IMMUNODEFICIENCY DUE TO LRBA DEFICIENCY Is also known as cid due to lrba deficiency

Related symptoms:

  • Growth delay
  • Neoplasm
  • Failure to thrive
  • Anemia
  • Diarrhea


SOURCES: OMIM ORPHANET MENDELIAN

More info about COMBINED IMMUNODEFICIENCY DUE TO LRBA DEFICIENCY

Medium match MUCOPOLYSACCHARIDOSIS, TYPE II; MPS2


Mucopolysaccharidosis II is a rare X-linked recessive disorder caused by deficiency of the lysosomal enzyme iduronate sulfatase, leading to progressive accumulation of glycosaminoglucans in nearly all cell types, tissues, and organs. Patients with MPS II excrete excessive amounts of chondroitin sulfate B (dermatan sulfate) and heparitin sulfate (heparan sulfate) in the urine (McKusick, 1972; Wraith et al., 2008).

MUCOPOLYSACCHARIDOSIS, TYPE II; MPS2 Is also known as hunter syndrome|sulfoiduronate sulfatase deficiency|sids deficiency|mps ii|ids deficiency|iduronate 2-sulfatase deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Ptosis


SOURCES: OMIM MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS, TYPE II; MPS2

Medium match HURLER-SCHEIE SYNDROME


Hurler-Scheie syndrome is the intermediate form of mucopolysaccharidosis type 1 (MPS1; see this term) between the two extremes Hurler syndrome and Scheie syndrome (see these terms); it is a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development.

HURLER-SCHEIE SYNDROME Is also known as mucopolysaccharidosis type 1h/s|mucopolysaccharidosis type ih/s|mpsih/s|mps1-hs|mps1h/s

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about HURLER-SCHEIE SYNDROME

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Other less relevant matches:

Medium match HURLER SYNDROME


Hurler syndrome is the most severe form of mucopolysaccharidosis type 1 (MPS1; see this term), a rare lysosomal storage disease, characterized by skeletal abnormalities, cognitive impairment, heart disease, respiratory problems, enlarged liver and spleen, characteristic facies and reduced life expectancy.

HURLER SYNDROME Is also known as mpsih|mps1h|mps1-h|mucopolysaccharidosis type 1h|mucopolysaccharidosis type ih|hurler disease

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about HURLER SYNDROME

Medium match ALSTRÖM SYNDROME


Alström syndrome (AS) is a multisystemic disorder characterized by cone-rod dystrophy, hearing loss, obesity, insulin resistance and hyperinsulinemia, type 2 diabetes mellitus, dilated cardiomyopathy (DCM; see this term), and progressive hepatic and renal dysfunction.

ALSTRÖM SYNDROME Is also known as alss

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about ALSTRÖM SYNDROME

Low 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 KAWASAKI DISEASE


Kawasaki disease (KD) is a febrile, systemic, self-limiting vasculitis affecting children and characterized by inflammation in the medium sized vessels associated with coronary arterial aneurysms (CAA) that may be life threatening when untreated. KD is the most common cause of acquired heart disease in children in developed countries and is a risk factor for ischemic heart disease in adulthood.

KAWASAKI DISEASE Is also known as kd|infantile polyarteritis|mucocutaneous lymph node syndrome

Related symptoms:

  • Sensorineural hearing impairment
  • Ptosis
  • Fever
  • Fatigue
  • Edema


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about KAWASAKI DISEASE

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 WILLIAMS SYNDROME


Williams syndrome is a rare genetic multisystemic neurodevelopmental disorder characterized by a distinct facial appearance, cardiac anomalies (most frequently supravalvular aortic stenosis), cognitive and developmental abnormalities, and connective tissue abnormalities (such as joint laxity)

WILLIAMS SYNDROME Is also known as deletion 7q11.23|williams syndrome|williams-beuren syndrome|chromosome 7q11.23 deletion syndrome, 1.5- to 1.8-mb|wms|monosomy 7q11.23|ws

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about WILLIAMS SYNDROME

Low match CARDIOMYOPATHY, DILATED, 1W; CMD1W


Related symptoms:

  • Congestive heart failure
  • Dyspnea
  • Dilated cardiomyopathy


SOURCES: OMIM MESH MENDELIAN

More info about CARDIOMYOPATHY, DILATED, 1W; CMD1W

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

Symptoms // Phenotype % cases
Abdominal pain Common - Between 50% and 80% cases
Recurrent otitis media Common - Between 50% and 80% cases
Cognitive impairment Common - Between 50% and 80% cases
Diarrhea Common - Between 50% and 80% cases
Splenomegaly Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Sensorineural hearing impairment

Uncommon Symptoms - Between 30% and 50% cases


Hearing impairment

Common Symptoms - More than 50% cases


Hepatosplenomegaly

Uncommon Symptoms - Between 30% and 50% cases


Kyphosis Depressivity Abnormal heart valve morphology Global developmental delay Hepatomegaly Cardiomyopathy Osteopenia Intellectual disability Hypertension Coarse facial features Recurrent respiratory infections Constipation Corneal opacity Short stature Proteinuria Seizures Scoliosis Renal insufficiency Growth delay Short neck Visual impairment Macrocephaly Inguinal hernia Widely spaced teeth Umbilical hernia Thick vermilion border Pain Fatigue Macroglossia Myocardial infarction Mitral regurgitation Tubulointerstitial nephritis Dyspnea Sleep disturbance Carious teeth Cardiomegaly Hypothyroidism Arthralgia Behavioral abnormality Kyphoscoliosis Otitis media Respiratory insufficiency Abnormality of the dentition Headache Dermatan sulfate excretion in urine Elbow flexion contracture Nyctalopia Aortic regurgitation Chronic otitis media Micrognathia Microdontia Polyuria Craniosynostosis Irritability Progressive visual loss Abnormality of retinal pigmentation Genu valgum Heart murmur Dilatation Thick lower lip vermilion Abnormal facial shape Retinal degeneration Hepatitis Corneal dystrophy Joint stiffness Obstructive sleep apnea Abnormality of dental enamel Urinary glycosaminoglycan excretion Heparan sulfate excretion in urine Jaundice Cholelithiasis Myelopathy Dysostosis multiplex Hyperkeratosis Glaucoma Thickened skin Hernia Portal hypertension Scarring Depressed nasal bridge Abnormal form of the vertebral bodies Generalized hirsutism Conductive hearing impairment Abnormality of the kidney Peripheral visual field loss Hirsutism Chronic diarrhea Edema Vomiting Coronary artery atherosclerosis Cor pulmonale Arrhythmia Progressive hearing impairment Left ventricular hypertrophy Respiratory tract infection Fever Abnormality of the cardiovascular system Elevated hepatic transaminase Celiac disease Nausea and vomiting Interstitial pulmonary abnormality Stroke Large earlobe Lymphadenopathy Ptosis Pneumonia Failure to thrive Cataract Dolichocephaly Retinopathy Feeding difficulties Flexion contracture Delayed speech and language development Pes cavus Diabetes mellitus Arthritis Ischemic stroke

Rare Symptoms - Less than 30% cases


Visual loss Long philtrum Dilated cardiomyopathy Pulmonic stenosis Muscular hypotonia Cough Dry skin Pallor Delayed puberty Increased size of nasopharyngeal adenoids Wide mouth Wide nasal bridge Respiratory distress Thick eyebrow Gastroesophageal reflux Peripheral neuropathy Obesity Encephalopathy Strabismus Ataxia Patent ductus arteriosus Hyperhidrosis Abnormal aortic valve morphology Endocardial fibroelastosis Weight loss Autism Pes planus Abnormality of the liver Abnormal mitral valve morphology Angina pectoris Gingivitis Thoracic scoliosis Hemiplegia Myalgia Prominent supraorbital ridges Gingival overgrowth Optic atrophy Broad nasal tip Autistic behavior Everted lower lip vermilion Full cheeks Nephrocalcinosis Stage 5 chronic kidney disease Renovascular hypertension Skin rash Hypoalbuminemia Cholestasis Pruritus Osteoporosis ST segment depression Chronic hepatic failure Impaired temperature sensation Elevated erythrocyte sedimentation rate Decreased glomerular filtration rate Urethral stenosis Elevated C-reactive protein level Tubulointerstitial fibrosis Abnormal renal physiology Abnormal renal morphology High-frequency hearing impairment Hematuria Aortic root aneurysm Chronic obstructive pulmonary disease Reduced bone mineral density Coronary artery stenosis Vascular tortuosity Retinal vascular tortuosity Abnormal endocardium morphology Periorbital fullness Abnormality of lipid metabolism Loss of consciousness Ventricular hypertrophy Abnormal myocardium morphology Mitral valve prolapse Sudden cardiac death Chest pain Malabsorption Developmental regression Hypertrophic cardiomyopathy Anxiety Midface retrusion Restrictive cardiomyopathy Chronic fatigue Nausea Recurrent urinary tract infections Hyperlipidemia Abnormality of lysosomal metabolism Hypogonadotrophic hypogonadism Increased body weight Hepatic fibrosis Decreased liver function Anorexia Involuntary movements Abnormality of the hand Type II diabetes mellitus Urinary incontinence Vesicoureteral reflux Abdominal distention Ascites Nephropathy Tachycardia Cirrhosis Pancreatitis Precocious puberty Myocardial fibrosis Pericarditis Oligospermia Myocarditis Tubular atrophy Acute hepatic failure Elevated serum creatinine Right ventricular hypertrophy Poor coordination Glycosuria Polydipsia Glomerulopathy Progressive sensorineural hearing impairment Emphysema Glucose intolerance Diabetes insipidus Impaired vibratory sensation Obsessive-compulsive behavior Nephritis Abnormality of glycosaminoglycan metabolism Polycystic ovaries Intellectual disability, mild Pigmentary retinopathy Arthropathy Spinal canal stenosis Rhinitis Protuberant abdomen Exercise intolerance Hoarse voice Split hand Respiratory failure Progressive neurologic deterioration Hypertrichosis Intellectual disability, profound Autoimmunity Postural instability Multiple joint contractures Delayed eruption of teeth Neurodegeneration Abnormality of the cerebral white matter Attention deficit hyperactivity disorder Apnea Rod-cone dystrophy Proptosis Hydrocephalus Diastasis recti Tracheal stenosis Abnormal lung morphology Communicating hydrocephalus Type I diabetes mellitus Restrictive ventilatory defect Toe walking Purpura Hip dysplasia Anteverted nares Gait disturbance Skeletal dysplasia Camptodactyly of finger Abnormal pyramidal sign Pectus carinatum Motor delay Hypermetropia Synophrys Hypertelorism Anemia Wide nose Limitation of joint mobility Abnormality of the ribs Abnormality of dental morphology Lumbar hyperlordosis Abnormal vertebral morphology Aortic valve stenosis Retinal fold Coxa valga Papilledema Opacification of the corneal stroma Arnold-Chiari malformation Increased intracranial pressure Easy fatigability Incoordination Sleep apnea Back pain Conjunctivitis Severe short stature Flared iliac wings Abnormality of the gingiva Corneal crystals Autoimmune thrombocytopenia Abnormal cornea morphology Inflammation of the large intestine Clubbing of fingers Abnormal diaphysis morphology Abnormality of mucopolysaccharide metabolism Clubbing Hernia of the abdominal wall Abnormal nerve conduction velocity Villous atrophy Hip subluxation J-shaped sella turcica Recurrent upper respiratory tract infections Sagittal craniosynostosis Abnormality of the optic disc Abnormal intestine morphology Abnormality of the tonsils Decreased female libido Recurrent infections T-wave inversion Vasculitis Cranial nerve paralysis Miosis Chronic pain Abnormal thrombosis Abnormality of the renal tubule Recurrent pharyngitis Vascular skin abnormality Hyponatremia Abnormality of cardiovascular system physiology Scaling skin Supraventricular arrhythmia Thrombocytopenia Leukocytosis Biventricular hypertrophy Allergy Acute kidney injury Migraine Primary hypothyroidism Microalbuminuria Dysesthesia Conjunctival telangiectasia Meningitis Colitis Limb pain Unexplained fevers Spider hemangioma Polyclonal elevation of IgM Elevated alkaline phosphatase of hepatic origin Palmar telangiectasia Abnormal biliary tract morphology Concentric hypertrophic cardiomyopathy Mucosal telangiectasiae Functional abnormality of the gastrointestinal tract Neoplasm of the gallbladder Impaired renal concentrating ability Abnormality of glycosphingolipid metabolism Abnormality of the forehead Vitamin K deficiency Vitamin A deficiency Cholangiocarcinoma Hyperkeratotic papule Abnormal large intestine physiology Shortened PR interval Combined immunodeficiency Reduced sperm motility Abnormality of temperature regulation Nephrogenic diabetes insipidus Immunodeficiency Autoimmune hemolytic anemia Distal renal tubular acidosis Increased blood urea nitrogen Erythema Angiokeratoma Decreased lacrimation Obstructive lung disease Adenocarcinoma of the large intestine Dilated superficial abdominal veins Hyposthenuria Recurrent systemic pyogenic infections Shortened QT interval Angiokeratoma corporis diffusum Gastrointestinal dysmotility Inflammatory abnormality of the eye Asymmetric septal hypertrophy Palpitations Syncope Hypotension Decreased antibody level in blood Cervical lymphadenopathy Nephrotic syndrome Lymphoma Atrial fibrillation Subcutaneous nodule Inflammatory abnormality of the skin Hypohidrosis Lymphedema Bradycardia Fasciculations Abnormal autonomic nervous system physiology Spontaneous abortion Aminoaciduria Pancytopenia Muscle cramps Neutropenia Mandibular prognathia Abnormal emotion/affect behavior Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary stenosis Strawberry tongue Aseptic leukocyturia Abnormal gallbladder morphology Arthralgia/arthritis Posteriorly rotated ears Carcinoma Bulbous nose Abnormality of nail color Abnormality of the nervous system Bronchiectasis Coronary artery aneurysm Prominent nasal bridge Papule Paresthesia Vertigo Ventricular tachycardia Ventricular arrhythmia Abnormality of the nose Synovitis Abnormal EKG Xerostomia Transient ischemic attack Renal tubular dysfunction Edema of the lower limbs Abnormality of the gastrointestinal tract Supraventricular tachycardia Heat intolerance Renal tubular acidosis Reduced ejection fraction Peripheral arterial stenosis Achalasia Sinus bradycardia Cheilitis Pyuria Abnormality of femur morphology Wheezing Telangiectasia of the skin Tinnitus Anhidrosis Atrioventricular block Chronic kidney disease Glomerulosclerosis Personality changes CSF pleocytosis Tricuspid regurgitation Conjunctival hyperemia Abnormal pericardium morphology Orthostatic hypotension Arteritis Glossitis Hemolytic anemia Abnormal oral mucosa morphology Cholecystitis Bundle branch block Impotence Ascending tubular aorta aneurysm Exercise-induced muscle stiffness Cryptorchidism Tortuosity of conjunctival vessels Gait imbalance Hypoplasia of the zygomatic bone Chronic constipation Abnormality of the neck Abnormality of the cerebral vasculature Enuresis Dyslexia Cerebral ischemia Abnormality of refraction Decreased plasma carnitine Vocal cord paralysis Peripheral pulmonary artery stenosis Subvalvular aortic stenosis Lacrimation abnormality Bladder diverticulum Cystic renal dysplasia Peptic ulcer Periorbital edema Rectal prolapse Arterial stenosis Blue irides Down-sloping shoulders Abnormality of nervous system morphology Facial cleft Unilateral renal agenesis Hypoplastic toenails Tracheoesophageal fistula Open bite Hallux valgus Premature graying of hair Vertebral segmentation defect High hypermetropia Prematurely aged appearance Restlessness Multiple renal cysts Insomnia Megalocornea Posterior embryotoxon Arnold-Chiari type I malformation Nevus flammeus Soft skin Pulmonary artery stenosis Abnormality of the vasculature Patellar dislocation Dysgraphia Phonophobia Radioulnar synostosis Elfin facies Impaired visuospatial constructive cognition Calcification of the aorta Unilateral renal hypoplasia Myxomatous mitral valve degeneration Paroxysmal bursts of laughter Abnormal carotid artery morphology Abnormality of the diencephalon Medial flaring of the eyebrow Bilateral vocal cord paralysis Flat cornea Thyroid hemiagenesis Nystagmus-induced head nodding Overfriendliness Early onset of sexual maturation Dyssynergia Stellate iris Functional abnormality of male internal genitalia Descending aorta hypoplasia Vocal cord dysfunction Supravalvular aortic stenosis Abnormal social behavior Parathyroid hyperplasia Aortic arch aneurysm Abnormal glucose tolerance Increased nuchal translucency Thyroid hypoplasia Aplasia/Hypoplasia of the iris Renal duplication Colonic diverticula Abnormality of the ankles Tubulointerstitial abnormality Overriding aorta Obsessive-compulsive trait Abnormality of the gastric mucosa Nocturia Synostosis of joints Abnormality of the bladder Renal artery stenosis Retinal arteriolar tortuosity Hyperacusis Pelvic kidney Food intolerance Infantile hypercalcemia Abnormality of the voice Failure to thrive in infancy Left ventricular septal hypertrophy Clinodactyly of the 5th finger Hypertonia Short nose Malar flattening Absent speech Pectus excavatum Abnormal heart morphology Delayed skeletal maturation Elevated serum creatine phosphokinase Cerebellar hypoplasia Atrial septal defect Cerebral cortical atrophy Micropenis High forehead Macrotia Joint laxity Cleft lip Intellectual disability, moderate Low-set, posteriorly rotated ears Feeding difficulties in infancy Myopathy Ventricular septal defect Protruding ear Cornea verticillata Tenesmus Heavy proteinuria Acroparesthesia Abnormal common carotid artery morphology Abnormal ST segment Increased carotid artery intimal medial thickness Increased glomerular filtration rate Abnormality of the common coagulation pathway Abnormal glomerular filtration rate Generalized hypotonia Tremor Microcephaly Cleft palate Sclerosing cholangitis Spasticity Epicanthus Hyperreflexia Dysarthria Myopia Intrauterine growth retardation Hyperlordosis Paralysis Hypercalcemia Cutis laxa Nephrolithiasis Amblyopia Narrow face Increased bone mineral density Pointed chin Hemivertebrae Abnormality of the fingernails Spina bifida occulta Abnormal dermatoglyphics Hemiparesis Bicuspid aortic valve Sacral dimple Infantile muscular hypotonia Schizophrenia Adducted thumb Abnormality of pelvic girdle bone morphology Dysphonia Hypercalciuria Redundant skin Open mouth Small nail Blepharophimosis Dental malocclusion Abnormal cardiac septum morphology Broad forehead Small for gestational age Neurological speech impairment Joint hyperflexibility Smooth philtrum Dysmetria Oral cleft Hypodontia Esotropia Renal hypoplasia Renal agenesis Dehydration Tetralogy of Fallot Narrow forehead Hypotelorism Hypoplasia of penis Abnormality of extrapyramidal motor function Coarctation of aorta Hypsarrhythmia Vitamin E deficiency Hyperostosis frontalis interna Abnormal eosinophil morphology Abnormality of the pubic bone Cervical myelopathy Calvarial hyperostosis Thoracolumbar kyphoscoliosis Short mandibular rami Cervical kyphosis Abnormal CNS myelination Lumbar kyphosis Hypoplasia of the femoral head Enlargement of the wrists Calcification of falx cerebri C1-C2 subluxation Enlarged tonsils Hypoplastic cervical vertebrae Cervical subluxation Mandibular condyle hypoplasia Flaring of rib cage Broad ischia Abnormality of the middle ear ossicles Abnormal hand morphology Delayed tarsal ossification Large face Rhinorrhea Broad femoral neck Delayed ossification of carpal bones Diaphyseal thickening Recurrent ear infections Chronic rhinitis Biconcave vertebral bodies Mucopolysacchariduria Sclerosis of skull base Atlantoaxial dislocation Difficulty standing Anterior open bite Meckel diverticulum Narrow pelvis bone Flared nostrils Large sella turcica Anterior rib cupping Prominent sternum Abnormality of joint mobility Thick skull base Hypoplasia of teeth Short ribs Coarse hair Hypogonadism Polydactyly Abnormality of the metacarpal bones Photophobia Deeply set eye Knee flexion contracture Congenital hip dislocation Postnatal growth retardation Alopecia Sparse hair Lower limb spasticity Generalized tonic-clonic seizures Hypotrichosis Ophthalmoplegia Infertility Astigmatism Lower limb muscle weakness Myoclonus Hyporeflexia Deformed humerus Abnormality of premolar morphology Enlarged vertebral pedicles Proximal tapering of metacarpals Bullet-shaped phalanges of the hand Broad long bone diaphyses Abnormality of the wing of the ilium Abnormality of the tympanic membrane Stiff interphalangeal joints Abnormal mandible coronoid process morphology Abnormal mandibular ramus morphology Clinodactyly Delayed ossification of the hand bones Chronic sinusitis Nystagmus Blepharitis Hyperactive deep tendon reflexes Exertional dyspnea Blindness Dystonia Abnormality of peripheral nerve conduction Spinal cord compression Hepatic failure Aortic valve calcification Skeletal muscle atrophy Frontal bossing Abnormality of the skeletal system Cervical instability Delayed menarche Mitral valve calcification Prominent forehead Mental deterioration Optic nerve compression Abnormality of the radius Peripheral edema Severe global developmental delay Abnormality of eye movement Abnormality of skin pigmentation Wide cranial sutures Inability to walk High, narrow palate Frontal hirsutism Progressive flexion contractures Carpal bone hypoplasia Anterior scalloping of vertebral bodies Abnormality of the breast Small abnormally formed scapulae Short tubular bones of the hand Posterior scalloping of vertebral bodies Abnormality of the skull base Abnormality of the sella turcica Abnormal metaphyseal trabeculation Abnormality of femoral epiphysis Abnormality of cranial sutures Thickened ribs Abnormality of the glenoid fossa Abnormality of the lumbar spine Limited shoulder movement Widely patent coronal suture Contractures of the joints of the upper limbs Abnormality of the styloid process of ulna Abnormality of the humeral epiphysis Abnormality of the acetabulum Platybasia Abnormality of the skin Constrictive median neuropathy Abnormality of the respiratory system Hypoplasia of the odontoid process Palpebral edema Shallow orbits Abnormality of the elbow Recurrent lower respiratory tract infections Abnormality of the skull Abnormality of the clavicle Hydrocele testis Beaking of vertebral bodies Protruding tongue Upper airway obstruction Hypoplastic ilia Abnormality of the ulna Conical tooth Foam cells Pulmonary edema Hypoplastic iliac wing Seborrheic dermatitis Short clavicles Thickened calvaria Interphalangeal joint contracture of finger Coxa vara Nasal obstruction Shield chest Encephalocele Decreased body weight Long eyelashes Abnormality of epiphysis morphology Exotropia Spastic paraparesis Cerebral palsy Sparse axillary hair Dilation of lateral ventricles Hyperammonemia Sparse pubic hair Broad ribs Language impairment Stridor Metatarsus adductus Flared metaphysis Limb muscle weakness Retinal dystrophy Vitamin D deficiency Urethral stricture Abnormal spermatogenesis Chronic infection Abnormality of the urethra Lumbar scoliosis Abnormality of dental color Epigastric pain Abnormal chorioretinal morphology Verrucae First degree atrioventricular block Female hypogonadism Abnormal muscle tone Albuminuria Brain neoplasm Squared iliac bones Urethral obstruction Abnormality of the pituitary gland Hypoplastic male external genitalia Immune dysregulation Melena Facial hirsutism Acute pancreatitis Testicular atrophy Interstitial pneumonitis Gastritis Arteriosclerosis Urinary retention Poor fine motor coordination Pyelonephritis Chills Achromatopsia Hematemesis IgM deficiency Hepatic encephalopathy Abnormality of female external genitalia Multinodular goiter Bull's eye maculopathy Vertical nystagmus Increased total bilirubin Frontal balding Hepatic necrosis Multifocal atrial tachycardia Generalized lymphadenopathy Recurrent sinusitis Abnormality of the femoral head Chronic lung disease Exocrine pancreatic insufficiency Fatigable weakness IgA deficiency Pleural effusion Generalized amyotrophy Abnormality of the thyroid gland Amyloidosis Localized hirsutism Thyroiditis Uveitis Hepatocellular carcinoma Ulcerative colitis Cholestatic liver disease Cholangitis Prolonged prothrombin time Histiocytosis Vitreous haze Abnormality of renal calyx morphology Childhood-onset truncal obesity Granular macular appearance High-frequency sensorineural hearing impairment Increased circulating androgen level Exudative retinopathy Nonproductive cough Abnormal adipose tissue morphology Chronic active hepatitis Dilated third ventricle Receptive language delay Thickened ears Abnormality of prothrombin Dilatation of the bladder Unilateral breast hypoplasia Glue ear Recurrent cystitis Widely-spaced incisors Abnormal retinal artery morphology Precocious puberty in females EEG with occipital slowing Abnormal left ventricle morphology Disinhibition Hepatic steatosis Tachypnea Accelerated skeletal maturation Macular degeneration Acanthosis nigricans Atherosclerosis Tracheobronchomalacia Cervical cord compression Hypercholesterolemia Cone/cone-rod dystrophy Retinoschisis Goiter Neoplasm Intestinal pseudo-obstruction Elevated alkaline phosphatase Hyperinsulinemia Lipodystrophy Scaphocephaly Mild short stature Absence seizures Horizontal nystagmus Constriction of peripheral visual field Epidermal acanthosis Platyspondyly Round face Gastrointestinal hemorrhage Growth hormone deficiency Decreased testicular size Specific learning disability Cyanosis Optic disc pallor Pulmonary arterial hypertension Recurrent pneumonia Hypertriglyceridemia Retrognathia Insulin resistance Hyperpigmentation of the skin Sinusitis Gynecomastia Short toe Hypergonadotropic hypogonadism Aplasia/Hypoplasia of the cerebellum Spastic tetraparesis Retinal pigment epithelial atrophy Attenuation of retinal blood vessels Alopecia of scalp Hyperventilation Spastic tetraplegia Oligomenorrhea Posterior subcapsular cataract Broad foot Ketoacidosis Pendular nystagmus Tetraplegia Insulin-resistant diabetes mellitus Recurrent bronchitis Male hypogonadism Esophageal varix Burkitt lymphoma Ovarian cyst Decreased HDL cholesterol concentration Menstrual irregularities Follicular hyperplasia Retinal atrophy Hypoventilation Acne Pericardial effusion Hyperostosis Hyperglycemia Intellectual disability, progressive Pulmonary fibrosis Hydroureter Urinary urgency Truncal obesity Abnormal retinal morphology Chorioretinal atrophy Severe sensorineural hearing impairment Polyphagia Short finger Agenesis of permanent teeth Tetraparesis Bronchitis Hyperuricemia Increased number of teeth Subcapsular cataract Atrophy/Degeneration involving the corticospinal tracts



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