Hepatomegaly, and Tetralogy of Fallot

Diseases related with Hepatomegaly and Tetralogy of Fallot

In the following list you will find some of the most common rare diseases related to Hepatomegaly and Tetralogy of Fallot that can help you solving undiagnosed cases.

Top matches:

ALAGILLE SYNDROME DUE TO A NOTCH2 POINT MUTATION Is also known as syndromic bile duct paucity due to a notch2 point mutation|arteriohepatic dysplasia due to a notch2 point mutation|alagille-watson syndrome due to a notch2 point mutation

Related symptoms:

  • Hypertelorism
  • Failure to thrive
  • Cognitive impairment
  • Hypertension
  • Hepatomegaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about ALAGILLE SYNDROME DUE TO A NOTCH2 POINT MUTATION

Medium match SYNDROMIC DIARRHEA

Syndromic diarrhea (SD), or tricho-hepato-enteric syndrome (THE), is a severe congenital enteropathy manifesting as intractable diarrhea in the first month of life with failure to thrive and associated with facial dysmorphism, hair abnormalities, and, in some cases, immune disorders and intrauterine growth restriction.

SYNDROMIC DIARRHEA Is also known as trichohepatoenteric syndrome|tricho-hepato-enteric syndrome|diarrhea, fatal infantile, with trichorrhexis nodosa|sd/the|the syndrome|phenotypic diarrhea|diarrhea, syndromic|syndromic diarrhea/tricho-hepato-enteric syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Growth delay
  • Hypertelorism


SOURCES: OMIM ORPHANET MENDELIAN

More info about SYNDROMIC DIARRHEA

Medium match C SYNDROME

C syndrome is a rare multiple congenital anomaly/intellectual disability syndrome characterized by trigonocephaly and metopic suture synostosis, dysmorphic facial features, short neck, skeletal anomalies, and variable intellectual disability.

C SYNDROME Is also known as opitz c trigonocephaly|trigonocephaly syndrome|trigonocephaly c syndrome|otcs|opitz trigonocephaly syndrome|opitz trigonocephaly c syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about C SYNDROME

Other less relevant matches:

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

Medium match NOONAN SYNDROME

Noonan Syndrome (NS) is characterised by short stature, typical facial dysmorphism and congenital heart defects.

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about NOONAN SYNDROME

Medium match YUNIS-VARON SYNDROME

Yunis-Varon syndrome is a severe autosomal recessive disorder characterized by skeletal defects, including cleidocranial dysplasia and digital anomalies, and severe neurologic involvement with neuronal loss. Enlarged cytoplasmic vacuoles are found in neurons, muscle, and cartilage. The disorder is usually lethal in infancy (summary by Campeau et al., 2013).

YUNIS-VARON SYNDROME Is also known as cleidocranial dysplasia with micrognathia, absent thumbs, and distal aphalangia|cleidocranial dysplasia-micrognathia-absent thumbs syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about YUNIS-VARON SYNDROME

Medium match FANCONI ANEMIA

Fanconi anemia (FA) is a hereditary DNA repair disorder characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors.

FANCONI ANEMIA Is also known as fanconi pancytopenia|fanconi anemia|fa

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about FANCONI ANEMIA

Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome resulting from disordered peroxisome biogenesis. Affected children present in the newborn period with profound hypotonia, seizures, and inability to feed. Characteristic craniofacial anomalies, eye abnormalities, neuronal migration defects, hepatomegaly, and chondrodysplasia punctata are present. Children with this condition do not show any significant development and usually die in the first year of life (summary by Steinberg et al., 2006).For a complete phenotypic description and a discussion of genetic heterogeneity of Zellweger syndrome, see {214100}.Individuals with PBDs of complementation group 14 (CG14, equivalent to CGJ) have mutations in the PEX19 gene. For information on the history of PBD complementation groups, see {214100}.

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER); PBD12A

Biliary atresia is a rare, progressive obliterative cholangiopathy of the extrahepatic bile ducts, occuring in the embryonic/ perinatal period, leading to severe and persistent jaundice and acholic stool with an unfavorable course in the absence of treatment.

ISOLATED BILIARY ATRESIA Is also known as isolated atresia of bile ducts|non-syndromic biliary atresia

Related symptoms:

  • Failure to thrive
  • Hypertension
  • Hepatomegaly
  • Ventricular septal defect
  • Patent ductus arteriosus


SOURCES: OMIM ORPHANET MENDELIAN

More info about ISOLATED BILIARY ATRESIA

RHPD2 is an autosomal recessive multisystemic disorder with severe abnormalities apparent in utero and often resulting in fetal death or death in infancy. The main organs affected include the kidney, liver, and pancreas, although other abnormalities, including cardiac, skeletal, and lung defects, may also be present. Affected individuals often have situs inversus. The disorder results from a defect in ciliogenesis and ciliary function, as well as in cell proliferation and epithelial morphogenesis; thus, the clinical manifestations are highly variable (summary by Grampa et al., 2016).For a discussion of genetic heterogeneity of renal-hepatic-pancreatic dysplasia, see RHPD1 (OMIM ).

Related symptoms:

  • Hepatomegaly
  • Talipes equinovarus
  • Hypertrophic cardiomyopathy
  • Pulmonic stenosis
  • Narrow chest


SOURCES: OMIM MENDELIAN

More info about RENAL-HEPATIC-PANCREATIC DYSPLASIA 2; RHPD2

Top 5 symptoms//phenotypes associated to Hepatomegaly and Tetralogy of Fallot

Symptoms // Phenotype % cases
Failure to thrive Common - Between 50% and 80% cases
Hypertelorism Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Ventricular septal defect Common - Between 50% and 80% cases
Growth delay Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Hepatomegaly and Tetralogy of Fallot. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Intellectual disability

Uncommon Symptoms - Between 30% and 50% cases

Atrial septal defect

Common Symptoms - More than 50% cases

Global developmental delay

Uncommon Symptoms - Between 30% and 50% cases

Abnormal facial shape

Common Symptoms - More than 50% cases

Patent ductus arteriosus

Uncommon Symptoms - Between 30% and 50% cases

Intrauterine growth retardation Pulmonic stenosis Proptosis Micrognathia Hepatic failure Cryptorchidism Hypertension Abnormal heart morphology Abnormal cardiac septum morphology Upslanted palpebral fissure Abnormality of the skeletal system Jaundice Polyhydramnios Elevated hepatic transaminase Microcephaly Strabismus High palate Epicanthus Clinodactyly of the 5th finger Cholestasis Depressed nasal bridge Cirrhosis Broad forehead Triangular face Hearing impairment Hypertrophic cardiomyopathy Abnormality of the liver Delayed puberty Frontal bossing Anteverted nares Thrombocytopenia Hypopigmentation of the skin Irritability Cataract Sparse hair Hip dislocation Generalized hypotonia Toe syndactyly Scoliosis Postnatal growth retardation Muscular hypotonia Renal hypoplasia/aplasia Talipes equinovarus Downslanted palpebral fissures Clinodactyly Delayed skeletal maturation Abnormality of the genital system Abnormality of the urinary system Abnormality of cardiovascular system morphology Congestive heart failure Wide nasal bridge Renal insufficiency Coarctation of aorta Peripheral pulmonary artery stenosis Hydrocephalus Scarring Pulmonary artery stenosis Low-set ears

Rare Symptoms - Less than 30% cases

Abnormality of digit Renal hypoplasia Neonatal hypotonia Pectus excavatum Agenesis of corpus callosum Constipation Renal dysplasia Increased body weight Pointed chin Low-set, posteriorly rotated ears Carcinoma Syndactyly Abnormality of the kidney Absent thumb Retinopathy Protruding ear Short neck Heart murmur Brachydactyly Long nose Short philtrum Renal tubular acidosis Anal atresia Nystagmus Posterior embryotoxon Exocrine pancreatic insufficiency Craniosynostosis Bruising susceptibility Respiratory distress Aortic valve stenosis Aplasia/Hypoplasia of the abdominal wall musculature Abnormality of the helix High, narrow palate Malabsorption Cognitive impairment Clitoral hypertrophy High forehead Hypogonadism Failure to thrive in infancy Decreased body weight Renal cyst Cafe-au-lait spot Short chin Abnormality of blood and blood-forming tissues Multicystic kidney dysplasia Horseshoe kidney Neoplasm Pruritus Myopia Pigmentary retinopathy Feeding difficulties Ptosis Macrotia Coarse facial features Thin vermilion border Hepatosplenomegaly Microphthalmia Cleft palate Hypospadias Microtia Cardiomegaly Hepatic fibrosis Situs inversus totalis Cholestatic liver disease Pancytopenia Asplenia Premature birth Hypoplasia of the ulna Sepsis Dolichocephaly Small for gestational age Butterfly vertebrae Biliary atresia Wide mouth Abnormality of the pinna Dark urine Axenfeld anomaly Acidosis Narrow mouth Ventriculomegaly Prominent forehead Long philtrum Edema Anemia Leukopenia Portal hypertension Intrahepatic biliary atresia Short thumb Redundant neck skin Abnormality of the testis Stroke Prominent nose Hyperbilirubinemia Oligohydramnios Renal agenesis Renal artery stenosis Hypodontia Seizures Lymphedema Abnormality of skin pigmentation Curly hair Abnormal vertebral morphology Aplasia/Hypoplasia of the distal phalanges of the hand Aplasia of the 1st metacarpal Renovascular hypertension Aplasia/Hypoplasia of the nails Ataxia Slender long bones with narrow diaphyses Visual impairment Hyperreflexia Aplasia/Hypoplasia of the clavicles Hypoplastic facial bones Shortening of all distal phalanges of the toes Hypoplasia of the corpus callosum Gingival recession Abnormality of dental structure Abnormality of the scapula Aplasia of the distal phalanges of the hand Aplasia/Hypoplasia of the scapulae Narrow nasal base Aplasia/Hypoplasia of the proximal phalanx of the hallux Bilateral external ear deformity Abnormality of the occipital bone Abnormal parietal bone morphology Absent sternal ossification Aplasia of the distal phalanx of the hallux Broad secondary alveolar ridge Generalized hypotrichosis Tapered toe Aplasia/hypoplasia of the 1st metatarsal Abnormal pelvis bone morphology Aplasia/Hypoplasia of the hallux Short proximal phalanx of hallux Macrocephaly Inverted nipples Hypoplasia of the frontal lobes Large fontanelles Rocker bottom foot Absent eyebrow Abnormality of dental morphology Sparse eyebrow Pyloric stenosis Abnormality of pelvic girdle bone morphology Tented upper lip vermilion Sparse eyelashes Short ribs Short toe Sparse and thin eyebrow Hydrops fetalis Short phalanx of finger Pachygyria Metatarsus adductus Sparse scalp hair Small nail Cerebellar vermis hypoplasia Pulmonary arterial hypertension Neuronal loss in central nervous system Dandy-Walker malformation Tapered finger Single transverse palmar crease Hypotrichosis Severe global developmental delay Thin upper lip vermilion Micropenis Cerebellar hypoplasia Short middle phalanx of finger Flared metaphysis Multiple skeletal anomalies Abnormality of the neck Aplasia/Hypoplasia of the middle phalanges of the hand Generalized neonatal hypotonia Short upper lip Increased nuchal translucency Wide cranial sutures Arrhinencephaly Congenital microcephaly Aplastic clavicle Small earlobe Bilateral microphthalmos Premature loss of primary teeth Absent nipple Aplasia/Hypoplasia of the nipples Decreased skull ossification Fatigue Hypoplastic scapulae Hypoplastic labia majora Abnormality of finger Sclerocornea Severe failure to thrive Glossoptosis Short clavicles Aplasia/Hypoplasia of the thumb Thin ribs Severe hearing impairment Cardiomyopathy Short finger Aplasia/Hypoplasia of the eyebrow Anonychia Fever External ear malformation Headache Almond-shaped palpebral fissure Wide anterior fontanel Decreased fetal movement Peripheral demyelination Cerebral atrophy Abnormality of the preputium Pyridoxine-responsive sideroblastic anemia Aplasia/Hypoplasia of fingers Aplasia/Hypoplasia of the uvula Neoplasm of head and neck Deficient excision of UV-induced pyrimidine dimers in DNA Anemic pallor Prolonged G2 phase of cell cycle Abnormal carotid artery morphology Compensated hypothyroidism Central hypotonia Absent testis Hypoplastic anemia Chromosomal breakage induced by crosslinking agents Decreased fertility in males Clubbing of toes Partial duplication of thumb phalanx Complete duplication of thumb phalanx Aplasia/Hypoplasia of the iris Low-grade fever Meckel diverticulum Duplicated collecting system Duodenal stenosis Primary hypothyroidism Cholelithiasis Scaphocephaly Abnormal aortic morphology Portal fibrosis Heterotaxy Cystic renal dysplasia Agenesis of cerebellar vermis Truncus arteriosus Enlarged kidney Femoral bowing Pulmonary hypoplasia Narrow chest Atretic gallbladder Extrahepatic biliary duct atresia Acholic stools Unconjugated hyperbilirubinemia Increased total bilirubin Bile duct proliferation Double outlet right ventricle Conjugated hyperbilirubinemia Polysplenia Right ventricular hypertrophy Ventricular hypertrophy Intestinal malrotation Abnormality of the male genitalia Abnormality of the hairline Elevated long chain fatty acids Cranial asymmetry CNS demyelination Periorbital fullness Delayed closure of the anterior fontanelle Abnormal cortical bone morphology Renal tubular dysfunction Abnormality of nervous system morphology Reticulocytopenia Severe short stature Short palpebral fissure Reduced bone mineral density Hypopigmented skin patches Cranial nerve paralysis Azoospermia Type I diabetes mellitus Bone marrow hypocellularity Hypergonadotropic hypogonadism Spina bifida Insulin resistance Telangiectasia Recurrent urinary tract infections Aganglionic megacolon Choanal atresia Sloping forehead Hyperinsulinemia Lymphoma Neutropenia Vertigo Astigmatism Facial asymmetry Abnormality of the foot Finger syndactyly Leukemia Abnormality of the eye Pes planus Umbilical hernia Hypothyroidism Weight loss Diabetes mellitus Abnormality of vision Myelodysplasia Abnormality of chromosome stability Abnormality of the ulna Abnormal localization of kidney Abnormal renal morphology Abnormal aortic valve morphology Abnormality of the hypothalamus-pituitary axis Acute monocytic leukemia Abnormality of femur morphology Bicornuate uterus Abnormality of the thumb Abnormality of the uterus Aplastic anemia Abnormality of the upper limb B-cell lymphoma Arteriovenous malformation Abnormal eyelid morphology Triphalangeal thumb Chromosome breakage Hearing abnormality Prominent digit pad Irregular hyperpigmentation Aplasia/Hypoplasia of the radius Absent radius Acute myeloid leukemia Multiple cafe-au-lait spots Myeloid leukemia Hydroureter Ectopic kidney Squamous cell carcinoma Glucose intolerance Tracheoesophageal fistula Abnormality of the vestibular nerve Mitral valve prolapse Aplasia of lymphatic vessels Hand polydactyly Broad alveolar ridges Medulloblastoma Abnormal hair pattern Postaxial foot polydactyly Anal stenosis Ulnar deviation of finger Abnormality of immune system physiology Dislocated radial head Biparietal narrowing Multiple joint contractures Radial deviation of finger Trigonocephaly Redundant skin Abnormality of the anus Sacral dimple Aplasia/Hypoplasia of the corpus callosum Cutis laxa Joint dislocation Bilateral single transverse palmar creases Gingival overgrowth Omphalocele Intellectual disability, profound Congenital diaphragmatic hernia Postaxial hand polydactyly Limb undergrowth Short metacarpal Accessory oral frenulum Metopic synostosis Postaxial polydactyly Conductive hearing impairment Abnormal form of the vertebral bodies Hypertriglyceridemia Nephrotic syndrome Abnormality of the ribs Specific learning disability Gastrointestinal hemorrhage Round face Vesicoureteral reflux Microcornea Short distal phalanx of finger Flat face Stage 5 chronic kidney disease Deeply set eye Female pseudohermaphroditism Brachycephaly Areflexia Visual loss Dilatation Intellectual disability, mild Fused sternal ossification centers Thick anterior alveolar ridges Midline facial capillary hemangioma Right-to-left shunt Hypoplasia of the ear cartilage Renal cortical cysts Conotruncal defect Pseudohypoaldosteronism Limitation of joint mobility Hirsutism Hemivertebrae Wide nose Iron deficiency anemia Abnormality of the immune system Brittle hair Hypoalbuminemia Recurrent upper respiratory tract infections Aortic regurgitation Abnormality of the hair Chronic diarrhea Depressed nasal ridge Fine hair Aciduria Bifid uvula Dry skin Thrombocytosis Respiratory tract infection Osteoporosis Hernia Immunodeficiency Diarrhea Wolff-Parkinson-White syndrome Poor coordination Rickets Cyanosis Hematuria Proteinuria Mandibular prognathia Splenomegaly Underdeveloped supraorbital ridges Woolly hair Oral cleft Abnormality of iron homeostasis Micromelia Smooth philtrum Talipes Cleft lip Polydactyly Posteriorly rotated ears Short nose Intellectual disability, severe Motor delay Flexion contracture Abnormalities of placenta or umbilical cord Large placenta Galactosuria Large forehead Humoral immunodeficiency Hypermethioninemia Renal cortical microcysts Increased serum iron Hypergalactosemia Secretory diarrhea Intractable diarrhea Intermittent diarrhea Increased mean platelet volume Trichorrhexis nodosa Abnormal thrombocyte morphology Abnormality of the pancreas Villous atrophy Exotropia Finger clinodactyly Abnormal atrial septum morphology Abnormality of the mouth Myeloproliferative disorder Elevated circulating luteinizing hormone level Shield chest Thickened helices Abnormal mitral valve morphology Abnormality of the spleen Elevated circulating follicle stimulating hormone level Abnormality of refraction High anterior hairline Premature skin wrinkling Acute leukemia Thickened nuchal skin fold Acute lymphoblastic leukemia Enlarged thorax Aortic root aneurysm Thoracic scoliosis Male infertility Cystic hygroma Atrioventricular canal defect Prolonged bleeding time Abnormality of coagulation Myopathic facies Cubitus valgus Melanocytic nevus Pleural effusion Abnormality of the thorax Abnormality of the pulmonary artery Abnormal hair quantity Radioulnar synostosis Hyperkeratosis pilaris Abnormal lymphatic vessel morphology Abnormal anterior segment morphology Abnormal nipple morphology Morphological abnormality of the inner ear Aplasia of the semicircular canal Hypoplasia of lymphatic vessels Abnormal location of ears Puberty and gonadal disorders Neurofibrosarcoma Amegakaryocytic thrombocytopenia Prominent nasolabial fold Superior pectus carinatum Reduced factor XII activity Synovitis Reduced factor XI activity Abnormal platelet function Pulmonary lymphangiectasia Reduced factor VIII activity Abnormal pulmonary valve morphology Prominent fingertip pads Unilateral ptosis Intestinal lymphangiectasia Abnormality of the mandible Prolonged QRS complex Multiple lentigines Abnormality of the lymphatic system Chylothorax Bilateral ptosis Coarse hair Spina bifida occulta Intrahepatic cholestasis Chronic hepatic failure Multiple small medullary renal cysts Vitamin D deficiency Papillary thyroid carcinoma Band keratopathy Abnormal anterior chamber morphology Arterial stenosis Hypopigmentation of the fundus Fat malabsorption Abnormal pupil morphology Thyroid carcinoma Peripheral arterial stenosis Coronal craniosynostosis Rectourethral fistula Abnormality of the vasculature Dilatation of the cerebral artery Hepatocellular carcinoma Abnormality of the ureter Keratoconus Telangiectasia of the skin Prolonged neonatal jaundice Chorioretinal atrophy Vertebral segmentation defect Malnutrition Glomerulosclerosis Corneal dystrophy Hypercholesterolemia Unicoronal synostosis Reduced number of intrahepatic bile ducts Arnold-Chiari malformation Thick vermilion border Abnormal dermatoglyphics Scapular winging Hypogonadotrophic hypogonadism Amblyopia Mitral regurgitation Thick lower lip vermilion Low posterior hairline Wide intermamillary distance Otitis media Webbed neck Dental malocclusion Abnormal bleeding Joint hypermobility Butterfly vertebral arch Joint hyperflexibility Neurological speech impairment Pectus carinatum Feeding difficulties in infancy Hydronephrosis Kyphoscoliosis Gastroesophageal reflux Arrhythmia Midface retrusion Dysphagia Dysarthria Muscle weakness Sensorineural hearing impairment Pancreatic dysplasia


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