Congestive heart failure, and Corneal dystrophy

Diseases related with Congestive heart failure and Corneal dystrophy

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


Top matches:

Low match CONGENITAL CATARACT-HYPERTROPHIC CARDIOMYOPATHY-MITOCHONDRIAL MYOPATHY SYNDROME


Congenital cataract - hypertrophic cardiomyopathy - mitochrondrial myopathy (CCM) is a mitochondrial disease (see this term) characterized by cataracts, hypertrophic cardiomyopathy, muscle weakness and lactic acidosis after exercise.

CONGENITAL CATARACT-HYPERTROPHIC CARDIOMYOPATHY-MITOCHONDRIAL MYOPATHY SYNDROME Is also known as mtdps10|sengers syndrome|cardiomyopathy and cataract|mitochondrial dna depletion syndrome 10 (cardiomyopathic type)

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Growth delay
  • Nystagmus


SOURCES: OMIM ORPHANET MENDELIAN

More info about CONGENITAL CATARACT-HYPERTROPHIC CARDIOMYOPATHY-MITOCHONDRIAL MYOPATHY SYNDROME

Low 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

Low match EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE


Ehlers-Danlos syndrome, kyphoscoliotic type (EDKT) is a form of Ehlers-Danlos syndrome characterized by severe hypotonia and kyphoscoliosis at birth, generalized joint hyperextensibility and ocular globe fragility.

EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE Is also known as eds vi|eds6|ehlers-danlos syndrome, oculoscoliotic type|ehlers-danlos syndrome, ocular-scoliotic type|eds, oculoscoliotic type|eds6a, formerly|nevo syndrome|eds via|ehlers-danlos syndrome, type vi|ehlers-danlos syndrome, type via, formerly|eds, kyphoscoli

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness
  • Muscular hypotonia
  • Cryptorchidism


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE

Mendelian

Too many results?
We can help you with your rare disease diagnosis.

Learn more

Other less relevant matches:

Low 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

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 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

Low match CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 3; FECD3


Late-onset Fuchs endothelial corneal dystrophy (FECD) is a degenerative disorder affecting roughly 4% of the population older than 40 years. It is distinguished from other corneal disorders by the progressive formation of guttae, which are microscopic refractile excrescences of the Descemet membrane, a collagen-rich basal lamina secreted by the corneal endothelium. From onset, it usually takes 2 decades for FECD to impair endothelial cell function seriously, leading to stromal edema and impaired vision (Sundin et al., 2006).For a discussion of genetic heterogeneity of Fuchs endothelial corneal dystrophy, see FECD1 (OMIM ).

CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 3; FECD3 Is also known as corneal dystrophy, fuchs endothelial, late-onset|fcd2 locus

Related symptoms:

  • Visual impairment
  • Edema
  • Corneal dystrophy


SOURCES: OMIM MENDELIAN

More info about CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 3; FECD3

Low match CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 4; FECD4


Fuchs endothelial corneal dystrophy (FECD) is the most common genetic disorder of the corneal endothelium. Late-onset FECD is marked by thickening of Descemets membrane and excrescences, called guttae, that typically appear in the fourth or fifth decade. Disease progression results in decreased visual acuity as a result of increasing corneal edema, and end-stage disease is marked by painful epithelial bullae (summary by Riazuddin et al., 2013).For a discussion of genetic heterogeneity of Fuchs endothelial corneal dystrophy, see FECD1 (OMIM ).

CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 4; FECD4 Is also known as corneal dystrophy, fuchs endothelial, late-onset

Related symptoms:

  • Edema
  • Reduced visual acuity
  • Corneal dystrophy


SOURCES: OMIM MENDELIAN

More info about CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 4; FECD4

Top 5 symptoms//phenotypes associated to Congestive heart failure and Corneal dystrophy

Symptoms // Phenotype % cases
Intellectual disability Uncommon - Between 30% and 50% cases
Aortic regurgitation Uncommon - Between 30% and 50% cases
Osteopenia Uncommon - Between 30% and 50% cases
Heart murmur Uncommon - Between 30% and 50% cases
Coarse facial features Uncommon - Between 30% and 50% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Edema Cardiomyopathy Inguinal hernia Kyphosis Stroke Hepatomegaly Retinopathy Seizures Corneal opacity Global developmental delay Hearing impairment Respiratory insufficiency Growth delay Short stature Abnormal heart valve morphology Hypertension Depressed nasal bridge Abnormal facial shape Splenomegaly Dilatation Flexion contracture Visual impairment Hernia Diarrhea Myelopathy Prominent forehead Urinary glycosaminoglycan excretion Abnormality of the skeletal system Dysostosis multiplex Umbilical hernia Hepatosplenomegaly Dolichocephaly Macroglossia Split hand Recurrent otitis media Cognitive impairment Dyspnea Glaucoma Myopia Cataract Muscular hypotonia Headache Exercise intolerance Generalized hypotonia Hypertrophic cardiomyopathy Failure to thrive

Rare Symptoms - Less than 30% cases


Abdominal pain Anteverted nares Long philtrum Pneumonia Left ventricular hypertrophy Hemiplegia Flared metaphysis Joint stiffness Generalized hirsutism Severe global developmental delay Opacification of the corneal stroma Hip dysplasia Cardiomegaly Thickened skin Gingival overgrowth Retinal degeneration Thick vermilion border Prominent supraorbital ridges Abnormality of the cardiovascular system Mitral regurgitation Myocardial infarction Kyphoscoliosis Neonatal hypotonia Joint laxity Pectus carinatum Microcornea Gastrointestinal hemorrhage Thick eyebrow Mitral valve prolapse Thin skin Recurrent pneumonia Spina bifida occulta Progressive hearing impairment Keratoconus Aortic root aneurysm Hypoplasia of the odontoid process Thickened calvaria Abnormal aortic valve morphology Palpebral edema Pruritus Frontal bossing Renal insufficiency Visual loss Elevated hepatic transaminase Conductive hearing impairment Carcinoma Abnormality of the kidney Craniosynostosis Malabsorption Telangiectasia of the skin Delayed puberty Stage 5 chronic kidney disease Abnormality of skin pigmentation Abnormality of the ribs Nephrotic syndrome Abnormal form of the vertebral bodies Exotropia Lymphedema Abnormal vertebral morphology Micrognathia Renal tubular acidosis Glomerulosclerosis Large sella turcica Coronary artery atherosclerosis Protuberant abdomen Diastasis recti Constipation Arrhythmia Depressivity Flared iliac wings Mucopolysacchariduria Behavioral abnormality Hypertelorism Vomiting Sensorineural hearing impairment Large earlobe Atlantoaxial dislocation Thoracolumbar kyphoscoliosis Bullet-shaped phalanges of the hand Angina pectoris Peripheral arterial stenosis Abnormal mitral valve morphology Blindness Recurrent respiratory infections Talipes equinovarus Pigmentary retinopathy Acidosis Mental deterioration Generalized muscle weakness Sleep apnea Widely spaced teeth Elbow flexion contracture Esotropia Progressive neurologic deterioration Hypertrichosis Thick lower lip vermilion Intellectual disability, profound Asthma Myopathy Delayed eruption of teeth Neurodegeneration Abnormality of the cerebral white matter Easy fatigability Apnea Recurrent upper respiratory tract infections Severe short stature Pes cavus Hydrocephalus Short neck Macrocephaly Obstructive sleep apnea Hoarse voice Retinal fold Heparan sulfate excretion in urine Muscle weakness Dermatan sulfate excretion in urine Motor delay Scoliosis Fatigue Respiratory distress Cryptorchidism Epicanthus Strabismus Reduced sperm motility Impaired temperature sensation Dysesthesia Abnormal cornea morphology Abnormality of the renal tubule Abnormal thrombosis Angiokeratoma Tubulointerstitial fibrosis C1-C2 subluxation Obstructive lung disease Chronic pain Fasciculations Abnormal renal physiology Miosis Bradycardia Hyposthenuria Shortened QT interval Abnormal autonomic nervous system physiology T-wave inversion Thick skull base Gastrointestinal dysmotility Periorbital fullness Deformed humerus Enlarged vertebral pedicles Proximal tapering of metacarpals Asymmetric septal hypertrophy Spontaneous abortion Supraventricular arrhythmia Delayed tarsal ossification Cervical subluxation Abnormality of cardiovascular system physiology Mandibular condyle hypoplasia Increased blood urea nitrogen Distal renal tubular acidosis Vascular tortuosity Decreased glomerular filtration rate Nephrogenic diabetes insipidus Abnormality of temperature regulation Limb pain Corneal crystals Retinal vascular tortuosity Vascular skin abnormality Decreased female libido Abnormality of lysosomal metabolism Abnormality of joint mobility Abnormal endocardium morphology Hypoplastic cervical vertebrae Flaring of rib cage Biventricular hypertrophy Primary hypothyroidism Delayed ossification of the hand bones Hypohidrosis High-frequency hearing impairment Microalbuminuria Broad ischia Enlarged tonsils Conjunctival telangiectasia Broad long bone diaphyses Purpura Aminoaciduria Abnormality of premolar morphology Glycosuria Glomerulopathy Celiac disease Orthostatic hypotension Progressive sensorineural hearing impairment Reduced bone mineral density Abnormality of the tympanic membrane Interstitial pulmonary abnormality Stiff interphalangeal joints Abnormal mandible coronoid process morphology Ventricular arrhythmia Elevated erythrocyte sedimentation rate Tinnitus Impotence Wheezing Bundle branch block Loss of consciousness Emphysema Anhidrosis Polyuria Diabetes insipidus Tricuspid regurgitation Impaired vibratory sensation Clubbing Personality changes Polydipsia Abnormal mandibular ramus morphology Abnormality of the hand Atrioventricular block Abnormality of glycosaminoglycan metabolism Abnormality of lipid metabolism Abnormal myocardium morphology Angiokeratoma corporis diffusum Chronic kidney disease Restrictive cardiomyopathy Hyperlipidemia Abnormality of the nose Abnormality of femur morphology Chronic fatigue Abnormality of the wing of the ilium Ventricular tachycardia Myocardial fibrosis Abnormal intestine morphology Sinus bradycardia Achalasia Chronic obstructive pulmonary disease Ischemic stroke Abnormal EKG Clubbing of fingers Reduced ejection fraction Heat intolerance Supraventricular tachycardia Increased size of nasopharyngeal adenoids Oligospermia Abnormality of the gastrointestinal tract Tubular atrophy Elevated serum creatinine Tubulointerstitial nephritis Edema of the lower limbs Renal tubular dysfunction Transient ischemic attack Xerostomia Abnormality of the tonsils Impaired renal concentrating ability Calcification of falx cerebri Stridor Peripheral visual field loss Short clavicles Protruding tongue Thoracic scoliosis Narrow pelvis bone Rhinitis Spinal canal stenosis Arthropathy Restrictive ventilatory defect Flared nostrils Anterior rib cupping Multiple joint contractures Metatarsus adductus Toe walking Language impairment Shallow orbits Back pain Increased intracranial pressure Hyperammonemia Cerebral palsy Coxa vara Abnormality of dental enamel Spastic paraparesis Coxa valga Abnormality of epiphysis morphology Long eyelashes Chronic diarrhea Decreased body weight Encephalocele Interphalangeal joint contracture of finger Meckel diverticulum Abnormality of the elbow Microdontia Endocardial fibroelastosis Chronic rhinitis Large face Recurrent ear infections Abnormal diaphysis morphology Diaphyseal thickening Sclerosis of skull base Delayed ossification of carpal bones Difficulty standing Broad femoral neck Rhinorrhea Abnormality of peripheral nerve conduction Sagittal craniosynostosis Hypoplasia of teeth Constrictive median neuropathy Seborrheic dermatitis Recurrent lower respiratory tract infections Beaking of vertebral bodies Abnormality of the skull Abnormality of the clavicle Gingivitis Abnormality of the respiratory system Tracheal stenosis Anterior open bite Communicating hydrocephalus Pulmonary edema Upper airway obstruction Hypoplastic ilia Conical tooth Cor pulmonale Foam cells Abnormal nerve conduction velocity Lumbar hyperlordosis Prominent sternum Hypoplasia of the femoral head Cervical kyphosis Cornea verticillata Abnormal glomerular filtration rate Abnormality of the common coagulation pathway Increased glomerular filtration rate Increased carotid artery intimal medial thickness Abnormal ST segment Abnormal common carotid artery morphology Acroparesthesia Heavy proteinuria Hernia of the abdominal wall Tenesmus Short mandibular rami Left ventricular septal hypertrophy Tortuosity of conjunctival vessels Hyperkeratotic papule Delayed speech and language development Mucosal telangiectasiae Abnormality of the pubic bone Abnormality of mucopolysaccharide metabolism Decreased lacrimation Shortened PR interval Coronary artery stenosis Concentric hypertrophic cardiomyopathy Unexplained fevers Abnormality of the forehead ST segment depression Functional abnormality of the gastrointestinal tract Lumbar kyphosis Biconcave vertebral bodies Abnormal CNS myelination Abnormality of glycosphingolipid metabolism Feeding difficulties Wide nasal bridge J-shaped sella turcica Hirsutism Abnormality of the gingiva Progressive visual loss Abnormality of the skin Limitation of joint mobility Full cheeks Hip subluxation Broad nasal tip Sleep disturbance Everted lower lip vermilion High, narrow palate Abnormal hand morphology Inability to walk Wide nose Enlargement of the wrists Dry skin Calvarial hyperostosis Camptodactyly of finger Skeletal muscle atrophy Abnormality of the dentition Proptosis Skeletal dysplasia Pallor Wide mouth Abnormal pyramidal sign Genu valgum Nyctalopia Cervical myelopathy Carious teeth Synophrys Abnormality of eye movement Abnormality of the middle ear ossicles Anorexia Exocrine pancreatic insufficiency Subcutaneous nodule Intracranial hemorrhage Keloids Thoracic kyphoscoliosis Lens luxation Subcutaneous hemorrhage Bladder diverticulum Generalized joint laxity Aortic dissection Atypical scarring of skin Soft skin Slender finger Abnormality of the hip bone Atrophic scars Disproportionate tall stature Aortic aneurysm Hyperextensible skin Arterial dissection Torticollis Joint dislocation Hyperbilirubinemia Increased body weight Spina bifida Joint contracture of the hand Insulin resistance Tall stature Dental crowding Blue sclerae High myopia Decreased fetal movement Oligohydramnios Overgrowth Dural ectasia Palmoplantar cutis laxa Abnormal bleeding Narrow forehead Recurrent bronchitis Flat acetabular roof Corneal erosion Radial bowing Severe postnatal growth retardation Megalocornea Vertebral fusion Pathologic fracture Pericardial effusion Abnormality of the thorax Metaphyseal widening Short long bone Congenital hip dislocation Sparse and thin eyebrow Wide intermamillary distance Premature rupture of membranes Brain atrophy Short palm Hip dislocation Respiratory tract infection High forehead Weight loss Ataxia Progressive congenital scoliosis Spontaneous rupture of the globe Molluscoid pseudotumors Arterial rupture Decreased pulmonary function Moderate myopia Wrist drop Sepsis Single transverse palmar crease Ovoid vertebral bodies Premature ovarian insufficiency Infantile axial hypotonia Inferior vermis hypoplasia Fatty replacement of skeletal muscle Decreased activity of mitochondrial respiratory chain Abnormal myelination 3-Methylglutaconic aciduria Skeletal myopathy Organic aciduria Right ventricular hypertrophy Cardiorespiratory arrest Meningocele Mitochondrial myopathy Hypoplasia of the brainstem Abnormality of mitochondrial metabolism Abnormal electroretinogram Abnormal muscle fiber protein expression Eosinophilia Ragged-red muscle fibers Tachypnea Cardiac arrest Hemiparesis Pulmonary arterial hypertension Aciduria Increased serum lactate Lactic acidosis Congenital cataract Feeding difficulties in infancy Cerebellar hypoplasia Thrombocytopenia Nystagmus Exercise-induced lactic acidemia Depletion of mitochondrial DNA in muscle tissue Polyneuropathy Retinoschisis Retinal detachment Bruising susceptibility Joint hypermobility Unsteady gait Arachnodactyly Talipes Joint hyperflexibility Hyperlordosis Pes planus Osteoporosis Pectus excavatum Abnormality of metabolism/homeostasis Gait disturbance Low-set ears Tracheobronchomalacia Ptosis Abnormality of retinal pigmentation Rod-cone dystrophy Attention deficit hyperactivity disorder Postural instability Tetraplegia Spastic tetraplegia Tetraparesis Intellectual disability, progressive Cervical cord compression Spastic tetraparesis Incoordination Mild short stature Scaphocephaly Papilledema Intestinal pseudo-obstruction Hypoplastic scapulae Lack of skin elasticity Abnormal lung morphology Vitamin D deficiency Midface retrusion Optic atrophy Fever Peripheral neuropathy Anemia Pain Butterfly vertebral arch Reduced number of intrahepatic bile ducts Rectourethral fistula Unicoronal synostosis Intrahepatic biliary atresia Chronic hepatic failure Multiple small medullary renal cysts Renal artery stenosis Axenfeld anomaly Hyperhidrosis Papillary thyroid carcinoma Band keratopathy Biliary atresia Abnormal anterior chamber morphology Butterfly vertebrae Arterial stenosis Hypopigmentation of the fundus Fat malabsorption Peripheral pulmonary artery stenosis Abnormal pupil morphology Thyroid carcinoma Cholestatic liver disease Intrahepatic cholestasis Coronal craniosynostosis Posteriorly rotated ears Hyperkeratosis Abnormality of the vasculature Nausea Palpitations Atrial fibrillation Ventricular hypertrophy Hypotension Urinary incontinence Syncope Sudden cardiac death Chest pain Abdominal distention Muscle cramps Nephropathy Hematuria Bulbous nose Tachycardia Vertigo Hypothyroidism Paresthesia Nausea and vomiting Papule Prominent nasal bridge Cough Skin rash Developmental regression Abnormality of the nervous system Proteinuria Anxiety Arthritis Myalgia Arthralgia Mandibular prognathia Pulmonary artery stenosis Dilatation of the cerebral artery Abnormality of the rib cage Atrial septal defect Short philtrum Scarring Abnormality of the liver Protruding ear Deeply set eye Jaundice Macrotia Brachycephaly Upslanted palpebral fissure Clinodactyly of the 5th finger Delayed skeletal maturation Areflexia Clinodactyly Intellectual disability, mild Ventricular septal defect Pulmonic stenosis Downslanted palpebral fissures Intrauterine growth retardation Neoplasm Lower thoracic interpediculate narrowness Beaking of vertebral bodies T12-L3 Varus deformity of humeral neck Progressive alveolar ridge hypertropy Deficiency of N-acetylglucosamine-1-phosphotransferase Increased serum iduronate sulfatase activity Increased serum beta-hexosaminidase Broad alveolar ridges Cavernous hemangioma Abnormality of nervous system morphology Carpal bone hypoplasia Broad forehead Anal atresia Hepatocellular carcinoma Pointed chin Posterior embryotoxon Abnormality of the ureter Prolonged neonatal jaundice Long nose Chorioretinal atrophy Vertebral segmentation defect Malnutrition Hypoplasia of the ulna Portal hypertension Renal hypoplasia/aplasia Hypercholesterolemia Finger clinodactyly Multicystic kidney dysplasia Hemivertebrae Renal dysplasia Cirrhosis Vesicoureteral reflux Hepatic failure Flat face Short distal phalanx of finger Hypopigmentation of the skin Hypodontia Triangular face Round face Cholestasis Prominent nose Specific learning disability Tetralogy of Fallot Coarctation of aorta Renal hypoplasia Hypertriglyceridemia Reduced visual acuity



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Melanoma and Sinusitis, related diseases and genetic alterations Hepatomegaly and Dolichocephaly, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more