Hepatomegaly, and Vesicoureteral reflux

Diseases related with Hepatomegaly and Vesicoureteral reflux

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

Top matches:

Neonatal sclerosing cholangitis is a rare autosomal recessive form of severe liver disease with onset in infancy. Affected infants have jaundice, cholestasis, acholic stools, and progressive liver dysfunction resulting in fibrosis and cirrhosis; most require liver transplantation in the first few decades of life. Cholangiography shows patent biliary ducts, but there are bile duct irregularities (summary by Girard et al., 2016; Grammatikopoulos et al., 2016).

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Hypertension
  • Hepatomegaly
  • Splenomegaly


SOURCES: OMIM MENDELIAN

More info about SCLEROSING CHOLANGITIS, NEONATAL; NSC

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Neoplasm
  • Cleft palate


SOURCES: ORPHANET OMIM MENDELIAN

More info about SOTOS SYNDROME 3; SOTOS3

Multiple congenital anomalies-hypotonia-seizures syndrome type 2 is a rare, genetic, lethal, neurometabolic malformation syndrome characterized by multiple, variable, congenital cardiac (systolic murmur, atrial septal defect), urinary (duplicated collecting system, vesicoureteral reflux) and central nervous system (thin corpus callosum, cerebellar hypoplasia) malformations associated with neonatal hypotonia, early-onset epileptic encephalopathy, and myoclonic seizures. Craniofacial dysmorphism (prominent occiput, enlarged fontanel, fused metopic suture, upslanted palpebral fissures, overfolded helix, depressed nasal bridge, anteverted nose, malar flattening, microstomy with downturned corners, Pierre-Robin sequence, high arched palate, short neck) and other manifestions (joint contractures, hyperreflexia, dysplastic nails, developmental delay) are also observed.

MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME TYPE 2 Is also known as epileptic encephalopathy, early infantile, 20|gpibd4|mcahs type 2|glycosylphosphatidylinositol biosynthesis defect 4|eiee20

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME TYPE 2

Other less relevant matches:

Beckwith-Wiedemann syndrome is a pediatric overgrowth disorder involving a predisposition to tumor development. The clinical presentation is highly variable; some cases lack the hallmark features of exomphalos, macroglossia, and gigantism as originally described by Beckwith (1969) and Wiedemann (1969) (summary by Weksberg et al., 2010).Mussa et al. (2016) provided a review of Beckwith-Wiedemann syndrome, including the wide spectrum of phenotypic manifestations, delineation of the frequencies of manifestations according to genotype, and discussion of the molecular and epigenetic defects that underlie the disorder.

BECKWITH-WIEDEMANN SYNDROME; BWS Is also known as emg syndrome|exomphalos-macroglossia-gigantism syndrome|wiedemann-beckwith syndrome|wbs

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about BECKWITH-WIEDEMANN SYNDROME; BWS

High match HENNEKAM SYNDROME

Hennekam syndrome is characterised by the association of lymphoedema, intestinal lymphangiectasia, intellectual deficit and facial dysmorphism.

HENNEKAM SYNDROME Is also known as lymphedema-lymphangiectasia-intellectual disability syndrome|lymphatic dysplasia, generalized|hennekam lymphangiectasia-lymphedema syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Scoliosis
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about HENNEKAM SYNDROME

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

Bohring-Opitz syndrome is characterised by intrauterine growth retardation (IUGR), failure to thrive, facial dysmorphism (prominent metopic suture and forehead nevus flammeus, a low frontal and temporal hairline with hirsutism, puffy cheeks, upslanting palpebral fissures, exophthalmos, hypertelorism, cleft lip and palate, retrognathia and low set ears), flexion deformities of the elbows and wrists, camptodactyly, ulnar deviation of the fingers, foot anomalies and severe developmental delay. Less than 20 patients have been described so far. Although the large majority of reported cases occurred sporadically, autosomal recessive inheritance has also been reported.

BOHRING-OPITZ SYNDROME Is also known as c-like syndrome|bos syndrome|bohring syndrome|oberklaid-danks syndrome|opitz trigonocephaly-like syndrome

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about BOHRING-OPITZ SYNDROME

High 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

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

Multiple congenital anomalies-hypotonia-seizures syndrome is an autosomal recessive disorder characterized by neonatal hypotonia, lack of psychomotor development, seizures, dysmorphic features, and variable congenital anomalies involving the cardiac, urinary, and gastrointestinal systems. Most affected individuals die before 3 years of age (summary by Maydan et al., 2011). The disorder is caused by a defect in glycosylphosphatidylinositol biosynthesis; see GPIBD1 (OMIM ). Genetic Heterogeneity of Multiple Congenital Anomalies-Hypotonia-Seizures SyndromeMCAHS2 (OMIM ) is caused by mutation in the PIGA gene (OMIM ) on chromosome Xp22, and MCAHS3 (OMIM ) is caused by mutation in the PIGT gene (OMIM ) on chromosome 20q13.Knaus et al. (2018) provided a review of the main clinical features of the different types of MCAHS, noting that patients with mutations in the PIGN, PIGA, and PIGT genes have distinct patterns of facial anomalies that can be detected by computer-assisted comparison. Some individuals with MCAHS may have variable increases in alkaline phosphatase (AP) as well as variable decreases in GPI-linked proteins that can be detected by flow cytometry. However, there was no clear correlation between AP levels or GPI-linked protein abnormalities and degree of neurologic involvement, mutation class, or gene involved. Knaus et al. (2018) concluded that a distinction between MCAHS and HPMRS1 (OMIM ), which is also caused by mutation in genes involved in GPI biosynthesis, may be artificial and even inaccurate, and that all these disorders should be considered and classified together under the more encompassing term of 'GPI biosynthesis defects' (GPIBD).

MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME Is also known as congenital disorder of glycosylation due to pign deficiency|glycosylphosphatidylinositol biosynthesis defect 3|pign-cdg|gpibd3

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hypertelorism


SOURCES: OMIM ORPHANET MENDELIAN

More info about MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME

Top 5 symptoms//phenotypes associated to Hepatomegaly and Vesicoureteral reflux

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Global developmental delay Common - Between 50% and 80% cases
Hearing impairment Common - Between 50% and 80% cases
Polyhydramnios Common - Between 50% and 80% cases
Hypertelorism Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Hepatomegaly and Vesicoureteral reflux. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Seizures

Uncommon Symptoms - Between 30% and 50% cases

Atrial septal defect

Common Symptoms - More than 50% cases

Abnormality of the kidney

Uncommon Symptoms - Between 30% and 50% cases

Splenomegaly

Common Symptoms - More than 50% cases

Coarse facial features

Uncommon Symptoms - Between 30% and 50% cases

Cryptorchidism

Common Symptoms - More than 50% cases

Generalized hypotonia

Uncommon Symptoms - Between 30% and 50% cases

Short neck Depressed nasal bridge Abnormal facial shape Macrocephaly Cleft palate Neoplasm Growth delay Micrognathia Congestive heart failure Umbilical hernia Hernia Conductive hearing impairment Hydronephrosis Scoliosis Cirrhosis Cardiomegaly Low-set ears Ventricular septal defect Upslanted palpebral fissure Dilatation Posteriorly rotated ears Large for gestational age Wide mouth Long philtrum Gastroesophageal reflux Hypertension High palate Strabismus Failure to thrive Short stature Prominent occiput Proptosis Short nose Hypothyroidism Muscular hypotonia of the trunk Intrauterine growth retardation Short distal phalanx of finger Cerebral atrophy Nystagmus Hepatic failure Anteverted nares Retrognathia Myoclonus Encephalopathy Patent ductus arteriosus Malar flattening Narrow forehead Cerebral cortical atrophy Hypoplasia of the corpus callosum Respiratory failure Cataract Respiratory insufficiency Respiratory tract infection Frontal bossing Prominent forehead Macrotia Scarring Narrow palate Lymphedema Short foot Hirsutism Retinopathy Pulmonic stenosis Flat face Hepatosplenomegaly Respiratory distress Delayed skeletal maturation Feeding difficulties Abnormality of the dentition Intellectual disability, severe Epicanthus Nevus Abdominal distention Myopia Intellectual disability, mild Edema Cardiomyopathy Ventriculomegaly Optic atrophy Accelerated skeletal maturation Pruritus Sleep apnea Portal hypertension Jaundice Abnormality of cardiovascular system morphology Midface retrusion Obesity Large fontanelles Congenital diaphragmatic hernia Redundant skin Long face Prominent metopic ridge Enlarged kidney Nevus flammeus Stage 5 chronic kidney disease Nephroblastoma Autism Hyperactivity Inguinal hernia Elevated hepatic transaminase Abnormality of the liver

Rare Symptoms - Less than 30% cases

Renal insufficiency Visual loss Clinodactyly Delayed speech and language development Synophrys Ataxia Ureteral duplication Broad palm Nephrocalcinosis Downslanted palpebral fissures Anal stenosis Nonimmune hydrops fetalis Increased number of teeth Full cheeks Spina bifida occulta Abnormal anterior chamber morphology Hydroureter Dandy-Walker malformation Recurrent urinary tract infections Intellectual disability, moderate Hypercalciuria Relative macrocephaly Kyphosis Abnormal heart morphology Polydactyly Pericardial effusion Carcinoma Clinodactyly of the 5th finger Abnormality of the optic nerve Behavioral abnormality Joint hypermobility Pulmonary hypoplasia Vomiting Blindness Tall stature High, narrow palate Nephrolithiasis Deep palmar crease Biparietal narrowing Heart murmur Broad forehead Feeding difficulties in infancy Camptodactyly Hypertrophic cardiomyopathy Craniosynostosis Camptodactyly of finger Short philtrum Hypertonia Cholestasis Recurrent respiratory infections Narrow chest Malabsorption Ascites Lymphadenopathy Hypoglycemia Short toe Open mouth Muscular hypotonia Cleft lip Underdeveloped supraorbital ridges Prominent nose Decreased body weight Alopecia of scalp Chronic hepatic failure Omphalocele Sensorineural hearing impairment Intestinal malrotation Cognitive impairment Abnormal cardiac septum morphology Neurological speech impairment Premature birth Talipes equinovarus Macroglossia Nephropathy Coronal craniosynostosis Syndactyly Hemangioma Pectus excavatum Wide nasal bridge Adrenocortical carcinoma Melanocytic nevus Apnea Sleep disturbance Diastasis recti Hepatic steatosis Neonatal hypoglycemia Retinal dystrophy Narrow mouth Exocrine pancreatic insufficiency Neonatal hypotonia Abnormality of the eye Abnormality of the optic disc Hemihypertrophy Stroke Ichthyosis Pigmentary retinopathy Neuroblastoma Dry skin Specific learning disability Gastrointestinal hemorrhage Neurodevelopmental delay Hypermetropia Pneumonia Gonadoblastoma Delayed myelination Spasticity Thickened skin Posterior helix pit Hyperpigmentation of the skin Hypercholesterolemia Malnutrition Adrenocortical cytomegaly Chorioretinal atrophy Microcephaly Facial hemangioma Flexion contracture Absent speech Progressive visual loss Hepatoblastoma Hyperreflexia Anterior creases of earlobe Hypertriglyceridemia Growth hormone deficiency Cerebellar atrophy Coarctation of aorta Rhabdomyosarcoma Visceromegaly Hypotrichosis Round face Pleural effusion Decreased liver function Cerebral visual impairment Multicystic kidney dysplasia Irritability Deep philtrum Elevated alkaline phosphatase Overfolded helix Infantile spasms Chronic otitis media Obsessive-compulsive behavior Vertical nystagmus Delayed puberty Deeply set eye Hyperkeratosis Brachycephaly Hyperhidrosis Alopecia Constipation Hyporeflexia Depressivity Pain Gingival overgrowth Scaling skin Inflammatory abnormality of the skin Abnormality of skin pigmentation Frontal balding Sparse hair Overgrowth Anal atresia Webbed neck Melena Abnormal left ventricle morphology Abnormal renal physiology Ovarian cyst Menstrual irregularities High-frequency hearing impairment Epigastric pain Elevated C-reactive protein level Hepatic encephalopathy Abnormality of dental color Disinhibition Retinal pigment epithelial atrophy Decreased HDL cholesterol concentration Lumbar scoliosis Abnormality of the urethra Abnormality of female external genitalia Arteriosclerosis Chronic infection Decreased glomerular filtration rate Chills Achromatopsia Endocardial fibroelastosis Increased total bilirubin Testicular atrophy First degree atrioventricular block Pyelonephritis Poor fine motor coordination Abnormal renal morphology Abnormal spermatogenesis Hematemesis Bull's eye maculopathy Urethral stenosis Urinary retention Acute pancreatitis Multinodular goiter Tubulointerstitial fibrosis Insulin-resistant diabetes mellitus Restrictive cardiomyopathy Impaired vibratory sensation Precocious puberty Hyperinsulinemia Lipodystrophy Polydipsia Nephritis Aplasia/Hypoplasia of the cerebellum Constriction of peripheral visual field Acne Abnormality of the hand Hyperostosis Hyperglycemia Diabetes insipidus Glucose intolerance Polyuria Emphysema Pulmonary fibrosis Cholelithiasis Polycystic ovaries Truncal obesity Hypogonadotrophic hypogonadism Sinusitis Gynecomastia Hypergonadotropic hypogonadism Recurrent pneumonia Horizontal nystagmus Increased body weight Generalized hirsutism Absence seizures Goiter Macular degeneration Acanthosis nigricans Atherosclerosis Hyperlipidemia Pancreatitis Tachypnea Cone/cone-rod dystrophy Urinary urgency Abnormal retinal morphology Esophageal varix Acute hepatic failure Ketoacidosis Gingivitis Pendular nystagmus Tubulointerstitial nephritis Attenuation of retinal blood vessels Right ventricular hypertrophy Elevated serum creatinine Recurrent bronchitis Posterior subcapsular cataract Tubular atrophy Myocarditis Oligospermia Male hypogonadism Myocardial fibrosis Chronic fatigue Chronic obstructive pulmonary disease Broad foot Oligomenorrhea Polyphagia Subcapsular cataract Short finger Agenesis of permanent teeth Progressive sensorineural hearing impairment Glomerulopathy Glycosuria Bronchitis Hyperuricemia Pericarditis Poor coordination Thoracic scoliosis Autoimmune thrombocytopenia Severe sensorineural hearing impairment Hypoventilation Retinal atrophy Peripheral visual field loss Hyperventilation Abnormal chorioretinal morphology Dysphagia Urethral stricture Abnormal myocardium morphology Short attention span Woolly hair Thick upper lip vermilion Abnormal hair pattern Dystrophic fingernails Abnormality of the testis Delayed CNS myelination Abnormality of refraction Abnormality of the ulna Gastrointestinal dysmotility Abnormal mitral valve morphology Slow-growing hair Thickened helices Subvalvular aortic stenosis Abnormal aortic valve morphology Hyperextensibility of the finger joints Abnormality of the pulmonary artery Abnormality of the gastrointestinal tract Premature skin wrinkling Abnormality of hair texture Abnormal heart valve morphology Ectropion Cubitus valgus Absent eyebrow Open bite Aplasia/Hypoplasia of the eyebrow Neurofibromas Abnormality of the sternum Long palpebral fissure Multiple cafe-au-lait spots Hypoplasia of the zygomatic bone Curly hair Generalized hyperpigmentation Submucous cleft hard palate Poor appetite Atopic dermatitis Abnormal eyelash morphology Arnold-Chiari type I malformation Absent eyelashes Excessive wrinkled skin Cavernous hemangioma Bilateral ptosis Amblyopia Oral aversion Tremor Abnormality of the pinna Prominent nasal bridge Thin vermilion border Brain atrophy Focal-onset seizure Choreoathetosis Tented upper lip vermilion Eyelid fasciculation Abnormality of the urinary system Patent foramen ovale Focal impaired awareness seizure Cupped ear Cystic hygroma Limb hypertonia Hydrocele testis Hoarse cry Multiple plantar creases Multiple palmar creases Multiple lentigines Laryngeal cleft Sparse or absent eyelashes Increased nuchal translucency Endocarditis Abnormal tricuspid valve morphology Patchy alopecia Optic nerve dysplasia Hypoplasia of the frontal lobes Generalized ichthyosis Functional abnormality of the gastrointestinal tract Abnormality of the auditory canal Tongue thrusting Hyperkeratosis pilaris Abnormality of the hairline Abnormal location of ears Puberty and gonadal disorders Morphological abnormality of the gastrointestinal tract Cutaneous T-cell lymphoma Inappropriate crying Sparse eyebrow Failure to thrive in infancy Impaired temperature sensation Precocious puberty in females Thickened ears Dilatation of the bladder Unilateral breast hypoplasia Glue ear Recurrent cystitis Widely-spaced incisors Abnormal retinal artery morphology EEG with occipital slowing Receptive language delay Abnormality of prothrombin Abnormality of renal calyx morphology Localized hirsutism Vitreous haze Abnormality of the femoral head Ptosis Dysarthria Insulin resistance Granular macular appearance Hyperostosis frontalis interna Thrombocytopenia Hepatic necrosis Female hypogonadism Abnormal muscle tone Albuminuria Renovascular hypertension Squared iliac bones Urethral obstruction Abnormality of the pituitary gland Hypoplastic male external genitalia Facial hirsutism Chronic active hepatitis ST segment depression Multifocal atrial tachycardia Childhood-onset truncal obesity High-frequency sensorineural hearing impairment Increased circulating androgen level Exudative retinopathy Nonproductive cough Abnormal adipose tissue morphology Hydrocephalus High forehead Brittle hair Cutis laxa Fine hair Myocardial infarction Hemiparesis Cafe-au-lait spot Aspiration Abnormality of the nail Sparse eyelashes Oculomotor apraxia Abnormal palate morphology Abnormality of the cardiovascular system Aplasia/Hypoplasia of the corpus callosum Abnormality of the genitourinary system Delayed gross motor development Optic nerve hypoplasia Palmoplantar hyperkeratosis Abnormality of vision Poor suck Hyperextensible skin Low posterior hairline Dental malocclusion Osteopenia Dolichocephaly EEG abnormality Aggressive behavior Telecanthus Low-set, posteriorly rotated ears Erythema Pectus carinatum Leukemia Nail dystrophy Abnormality of the cerebral white matter Abnormal bleeding Genu valgum Astigmatism Peripheral axonal neuropathy Falls Bulbous nose Bruising susceptibility Thick vermilion border Palmoplantar keratoderma Hepatic fibrosis Severe failure to thrive Abnormality of retinal pigmentation Smooth philtrum Diarrhea Poor speech Glaucoma Microtia Finger syndactyly Abnormality of the foot Short palm Pancreatoblastoma Mandibular prognathia Small hand Delayed eruption of teeth Decreased antibody level in blood Pachygyria Hydrops fetalis Lymphopenia Congenital mesoblastic nephroma Fibrous hamartoma Bilateral single transverse palmar creases Prune belly Unilateral cryptorchidism Diaphragmatic eventration Teratoma Abdominal wall defect Embryonal neoplasm Renal cortical cysts Flank pain Pancreatic hyperplasia Ganglioneuroma Opsoclonus Abdominal mass Thymus hyperplasia Nephroblastomatosis Vitreomacular adhesion Overgrowth of external genitalia Joint contracture of the hand Hypocalcemia Pancreatic cysts Erysipelas Periorbital edema Rectal prolapse Chylothorax Primary hypothyroidism Abnormal oral mucosa morphology Intestinal lymphangiectasia Lymphangioma Generalized edema Pulmonary lymphangiectasia Severe hydrops fetalis Conical incisor Benign neoplasm of the central nervous system Mild postnatal growth retardation Thyroid lymphangiectasia Pericardial lymphangiectasia Protein-losing enteropathy Hypoproteinemia Horseshoe kidney Abnormality of dental morphology Abnormal intestine morphology Cutaneous syndactyly Oligodontia Reduced number of teeth Pyloric stenosis Hypoalbuminemia Ectopic kidney Sparse axillary hair Cutaneous finger syndactyly Palpebral edema External ear malformation Polysplenia Edema of the lower limbs Hypoplastic iliac wing Arteriovenous malformation Abnormality of the tongue Hypoplasia of the thymus Acholic stools Generalized myoclonic seizures Developmental regression Abnormality of eye movement Polycythemia Wide nose Downturned corners of mouth Hemolytic anemia Sepsis Multiple renal cysts Gliosis Epileptic encephalopathy Neuronal loss in central nervous system Microdontia Limb undergrowth Generalized-onset seizure Hypsarrhythmia Micropenis Cerebellar hypoplasia Postnatal microcephaly Subchorionic septal cyst Branchial cyst Large placenta Congenital megaureter Abnormality of pancreas morphology Abnormality of the shape of the midface Large intestinal polyposis Urogenital fistula Otosclerosis Leiomyosarcoma Anemia Elevated alpha-fetoprotein Choroideremia Asymmetric growth Abnormality of earlobe Pseudohypoparathyroidism Small nail Widely spaced teeth Ketosis Prominent supraorbital ridges Postaxial polydactyly Renal cyst Postural instability Abnormality of the outer ear Growth abnormality Polycystic kidney dysplasia Large hands Wide anterior fontanel Abnormality of the ear Tibial bowing Hamartoma Congenital hypothyroidism Aniridia Protuberant abdomen Foot polydactyly Attention deficit hyperactivity disorder Arnold-Chiari malformation Absent septum pellucidum Breech presentation Central hypotonia Epileptic spasms Pierre-Robin sequence Cardiorespiratory arrest High anterior hairline Developmental stagnation Seborrheic dermatitis Abnormality of the pons Hemoglobinuria Duplicated collecting system Micronodular cirrhosis Triangular mouth Alveolar ridge overgrowth Olfactory lobe agenesis Birth length greater than 97th percentile Pleural lymphangiectasia Sclerosing cholangitis Anorexia Nevus flammeus of the forehead Broad alveolar ridges Deep plantar creases Atrophy of the spinal cord Accessory oral frenulum Ulnar deviation of the wrist Mesomelic/rhizomelic limb shortening Facial capillary hemangioma Abnormality of the pancreas Hyperechogenic pancreas Delayed peripheral myelination Visual impairment Motor delay Peripheral neuropathy Fatigue Dystonia Thick hair Capillary hemangioma Hypogonadism Elbow dislocation Low anterior hairline Elbow flexion contracture Joint dislocation Sacral dimple CNS hypomyelination Trigonocephaly Hypoplasia of the brainstem Thoracolumbar scoliosis Overlapping toe Supernumerary nipple Short thorax Dislocated radial head Ulnar deviation of finger Severe intrauterine growth retardation Infra-orbital crease Rod-cone dystrophy Diabetes mellitus Heterotopia Hepatitis Tachycardia Asthma Urinary incontinence Otitis media Decreased testicular size Cyanosis Optic disc pallor Retinal degeneration Type II diabetes mellitus Epidermal acanthosis Pulmonary arterial hypertension Recurrent otitis media Involuntary movements Left ventricular hypertrophy Chronic diarrhea Nausea Infertility Abdominal pain Proteinuria Weight loss Dyspnea Kyphoscoliosis Pes planus Photophobia Myalgia Postnatal growth retardation Carious teeth Pallor Autistic behavior Nyctalopia Cough Dilated cardiomyopathy Generalized tonic-clonic seizures Ophthalmoplegia Bradycardia Hypertrichosis Abnormality of the skeletal system Vertebral segmentation defect Hemivertebrae Finger clinodactyly Corneal dystrophy Renal hypoplasia/aplasia Glomerulosclerosis Hypoplasia of the ulna Long nose Abnormal vertebral morphology Prolonged neonatal jaundice Telangiectasia of the skin Keratoconus Renal tubular acidosis Abnormality of the ureter Posterior embryotoxon Hepatocellular carcinoma Pointed chin Exotropia Abnormality of the vasculature Hypopigmentation of the skin Areflexia Cholangitis Acidosis Biliary cirrhosis Protruding ear Shock Microcornea Renal dysplasia Hypodontia Triangular face Tetralogy of Fallot Abnormality of the ribs Nephrotic syndrome Renal hypoplasia Abnormal form of the vertebral bodies Dilatation of the cerebral artery Pulmonary artery stenosis Interphalangeal joint contracture of finger Cleft upper lip Butterfly vertebral arch Recurrent infections Agenesis of corpus callosum Severe global developmental delay Platyspondyly Talipes Oral cleft Rectourethral fistula Everted lower lip vermilion Tapered finger Limitation of joint mobility Wide intermamillary distance Convex nasal ridge High myopia Intellectual disability, profound Reduced number of intrahepatic bile ducts Unicoronal synostosis Intrahepatic cholestasis Arterial stenosis Peripheral arterial stenosis Cholestatic liver disease Thyroid carcinoma Abnormal pupil morphology Peripheral pulmonary artery stenosis Fat malabsorption Hypopigmentation of the fundus Butterfly vertebrae Intrahepatic biliary atresia Biliary atresia Band keratopathy Papillary thyroid carcinoma Axenfeld anomaly Vitamin D deficiency Renal artery stenosis Multiple small medullary renal cysts Large fleshy ears


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