Ventricular septal defect, and Urinary incontinence

Diseases related with Ventricular septal defect and Urinary incontinence

In the following list you will find some of the most common rare diseases related to Ventricular septal defect and Urinary incontinence that can help you solving undiagnosed cases.

Top matches:

Cranio-osteoarthropathy (COA) is a form of primary hypertrophic osteoarthropathy (see this term) characterized by delayed closure of the cranial sutures and fontanels, digital clubbing, arthropathy, and periostosis.

CRANIO-OSTEOARTHROPATHY Is also known as sdam|currarino idiopathic osteoarthropathy|currarino disease|reginato-schiapachasse syndrome

Related symptoms:

  • Ventricular septal defect
  • Headache
  • Patent ductus arteriosus
  • Constipation
  • Diabetes mellitus


SOURCES: ORPHANET OMIM MENDELIAN

More info about CRANIO-OSTEOARTHROPATHY

Hand-foot-genital syndrome (HFGS) is a very rare multiple congenital abnormality syndrome characterized by distal limb malformations and urogenital defects.

HAND-FOOT-GENITAL SYNDROME Is also known as hfgs|hand-foot-uterus syndrome|hfu

Related symptoms:

  • Strabismus
  • Brachydactyly
  • Ventricular septal defect
  • Renal insufficiency
  • Hypospadias


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about HAND-FOOT-GENITAL SYNDROME

X-linked cerebral adrenoleukodystrophy (X-CALD), a subtype of X-linked adrenoleukodystrophy (X-ALD, see this term), is a peroxisomal disease characterized by severe inflammatory demyelination in the brain, and often associated with adrenal insufficiency.

X-LINKED CEREBRAL ADRENOLEUKODYSTROPHY Is also known as siemerling-creutzfeldt disease|addison disease and cerebral sclerosis|bronze schilder disease|melanodermic leukodystrophy

Related symptoms:

  • Seizures
  • Hearing impairment
  • Ataxia
  • Spasticity
  • Cognitive impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about X-LINKED CEREBRAL ADRENOLEUKODYSTROPHY

Other less relevant matches:

Lateral meningocele syndrome is a rare disorder characterized by distinctive facial features, hyperextensibility, hypotonia, and characteristic lateral meningoceles, which can result in neurologic complications such as bladder dysfunction and neuropathy. Dysmorphic features include dolichocephaly, hypertelorism, ptosis, microretrognathia, high-arched palate, long, flat philtrum, and low-set ears. Multiple additional variable features may also be observed, including cryptorchidism, vertebral anomalies, and connective tissue abnormalities. Early motor development is delayed, but cognition is usually normal (summary by Gripp et al., 2015).

LATERAL MENINGOCELE SYNDROME Is also known as lehman syndrome|lms

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about LATERAL MENINGOCELE SYNDROME

Medium 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

Distal 22q11.2 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 22, with a highly variable phenotype characterized by prematurity, pre- and post-natal growth retardation, developmental delay (particularly speech), mild intellectual disability, variable cardiac defects, and minor skeletal anomalies (such as clinodactyly). Dysmorphic features include prominent forehead, arched eyebrows, deep set eyes, narrow upslanting palpebral fissures, ear abnormalities, hypoplastic alae nasi, smooth philtrum, down-turned mouth, thin upper lip, retro/micrognatia and pointed chin. For certain very distal deletions, there is a risk of developing malignant rhabdoid tumours.

DISTAL 22Q11.2 MICRODELETION SYNDROME Is also known as distal del(22)(q11.2)|distal monosomy 22q11.2

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly


SOURCES: ORPHANET MENDELIAN

More info about DISTAL 22Q11.2 MICRODELETION SYNDROME

Submicroscopic subtelomeric deletions of chromosome 9q are associated with a recognizable mental retardation syndrome (Harada et al., 2004; Iwakoshi et al., 2004; Stewart et al., 2004; Neas et al., 2005). Common features in patients with 9q subtelomeric deletion syndrome are severe mental retardation, hypotonia, brachy(micro)cephaly, epileptic seizures, flat face with hypertelorism, synophrys, anteverted nares, everted lower lip, carp mouth with macroglossia, and heart defects. Genetic Heterogeneity of Kleefstra SyndromeKLEFS2 (OMIM ) is caused by mutation in the KMT2C gene (OMIM ) on chromosome 7q36.

KLEEFSTRA SYNDROME 1; KLEFS1 Is also known as chromosome 9q34.3 deletion syndrome|9q subtelomeric deletion syndrome|9q- syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about KLEEFSTRA SYNDROME 1; KLEFS1

CAYLER CARDIOFACIAL SYNDROME Is also known as depressor anguli oris muscle, hypoplasia of|facial paresis, partial, unilateral|asymmetric crying facies|acf

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about CAYLER CARDIOFACIAL SYNDROME

22q11.2 deletion syndrome (DS) is a chromosomal anomaly which causes a congenital malformation disorder whose common features include cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency.

22Q11.2 DELETION SYNDROME Is also known as monosomy 22q11|digeorge sequence|sedlackova syndrome|takao syndrome|velocardiofacial syndrome|shprintzen syndrome|conotruncal anomaly face syndrome|digeorge syndrome|catch 22|cayler cardiofacial syndrome|microdeletion 22q11.2|22q11ds

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about 22Q11.2 DELETION SYNDROME

Glycogen storage disease due to acid maltase deficiency, infantile onset is the most severe form of glycogen storage disease due to acid maltase deficiency, characterized by cardiomegaly with respiratory distress, muscle weakness and feeding difficulties. It is often fatal.

GLYCOGEN STORAGE DISEASE DUE TO ACID MALTASE DEFICIENCY, INFANTILE ONSET Is also known as glycogenosis due to acid maltase deficiency, infantile onset|glycogen storage disease type ii, infantile onset|gsd type 2, infantile onset|alpha-1,4-glucosidase acid deficiency, infantile onset|gsd type ii, infantile onset|glycogenosis type ii, infantile

Related symptoms:

  • Global developmental delay
  • Failure to thrive
  • Muscular hypotonia
  • Cognitive impairment
  • Feeding difficulties


SOURCES: ORPHANET MENDELIAN

More info about GLYCOGEN STORAGE DISEASE DUE TO ACID MALTASE DEFICIENCY, INFANTILE ONSET

Top 5 symptoms//phenotypes associated to Ventricular septal defect and Urinary incontinence

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Hearing impairment Common - Between 50% and 80% cases
Bowel incontinence Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Ventricular septal defect and Urinary incontinence. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Malar flattening Behavioral abnormality Joint hyperflexibility Inguinal hernia Sensorineural hearing impairment Vesicoureteral reflux Hypertelorism Microcephaly Intellectual disability Depressivity Attention deficit hyperactivity disorder Immunodeficiency Prominent nasal bridge Muscular hypotonia Patent ductus arteriosus Constipation Abnormality of the cerebral white matter Scoliosis Renal insufficiency Hypospadias Hernia Clinodactyly of the 5th finger Short distal phalanx of finger Aortic regurgitation Recurrent urinary tract infections Highly arched eyebrow Low-set ears Cryptorchidism Abnormal facial shape Recurrent respiratory infections Narrow mouth Arachnodactyly Atrial septal defect Gastroesophageal reflux Intrauterine growth retardation Cleft palate Cognitive impairment Arrhythmia Peripheral neuropathy Tetralogy of Fallot Spina bifida Failure to thrive Facial asymmetry Motor delay Hyperlordosis Arthritis Choanal atresia Meningocele Pyloric stenosis Long face Truncus arteriosus High, narrow palate Smooth philtrum Obsessive-compulsive behavior

Rare Symptoms - Less than 30% cases

Obesity Nasal speech Neoplasm Arthralgia Optic atrophy Achalasia Tubular atrophy Respiratory insufficiency Dilatation Midface retrusion Hydronephrosis Macroglossia Impotence Oculomotor apraxia Coxa valga Pointed chin Personality changes Sandal gap Hypothyroidism Chronic otitis media Bowing of the long bones Dyspnea Mandibular prognathia Coarse facial features Myalgia Telecanthus Psychosis Anxiety Hypotension Hypertrophic cardiomyopathy Developmental regression Underdeveloped nasal alae Cataract Bicuspid aortic valve Posteriorly rotated ears Upslanted palpebral fissure Short palm Branchial fistula Blepharophimosis Long philtrum Toe syndactyly Absent fingernail Abnormal heart morphology Back pain Absent toenail Platybasia Downslanted palpebral fissures Epicanthus Abnormality of earlobe Feeding difficulties Ankyloglossia Conductive hearing impairment Ulnar deviation of finger Autism Aortic aneurysm Language impairment Umbilical hernia Pes planus Generalized hypotonia Thin upper lip vermilion Ptosis Micrognathia Anal atresia Talipes equinovarus Deeply set eye Pain Tics Short neck Premature birth Dermoid cyst Spina bifida occulta Bulbous nose Renal hypoplasia Strabismus Abnormality of the skeletal system Edema Brachydactyly Abnormal aortic valve morphology Micropenis Thrombocytopenia Abnormality of cardiovascular system morphology Abnormality of the uterus Headache Abnormality of the skull Left ventricular hypertrophy Syringomyelia Purpura Spontaneous abortion Abnormality of the hand Chronic obstructive pulmonary disease Periorbital fullness Abnormal mitral valve morphology Gastrointestinal dysmotility T-wave inversion Asymmetric septal hypertrophy Hyperkeratotic papule Miosis Camptodactyly of finger High-frequency hearing impairment Chronic pain Tubulointerstitial fibrosis Abnormal thrombosis Abnormality of the renal tubule Abnormal renal physiology Chronic fatigue Abnormal myocardium morphology Large earlobe Abnormal EKG Xerostomia Transient ischemic attack Renal tubular dysfunction Edema of the lower limbs Tubulointerstitial nephritis Elevated serum creatinine Abnormality of the gastrointestinal tract Oligospermia Supraventricular tachycardia Restrictive cardiomyopathy Heat intolerance Reduced ejection fraction Peripheral arterial stenosis Clubbing of fingers Angina pectoris Sinus bradycardia Myocardial fibrosis Dysesthesia Abnormality of femur morphology Abnormality of the nose Abnormal cornea morphology Biventricular hypertrophy Supraventricular arrhythmia Coronary artery stenosis Abnormality of the common coagulation pathway Increased glomerular filtration rate Shortened QT interval Angiokeratoma corporis diffusum Decreased lacrimation Increased carotid artery intimal medial thickness Abnormal ST segment Abnormal common carotid artery morphology Shortened PR interval Concentric hypertrophic cardiomyopathy Cornea verticillata Mucosal telangiectasiae Acroparesthesia Unexplained fevers ST segment depression Functional abnormality of the gastrointestinal tract Heavy proteinuria Tenesmus Impaired renal concentrating ability Left ventricular septal hypertrophy Abnormality of glycosphingolipid metabolism Abnormal glomerular filtration rate Hyposthenuria Conjunctival telangiectasia Limb pain Microalbuminuria Primary hypothyroidism Abnormality of the forehead Abnormal endocardium morphology Abnormality of cardiovascular system physiology Decreased female libido Vascular skin abnormality Retinal vascular tortuosity Corneal crystals Abnormality of temperature regulation Impaired temperature sensation Nephrogenic diabetes insipidus Decreased glomerular filtration rate Vascular tortuosity Distal renal tubular acidosis Increased blood urea nitrogen Growth delay Reduced sperm motility Angiokeratoma Increased muscle glycogen content Obstructive lung disease Tortuosity of conjunctival vessels Tricuspid atresia Delayed speech and language development Short philtrum Polycystic kidney dysplasia Laryngomalacia Abnormality of the tonsils Schizophrenia Hypopigmented skin patches Abnormality of dental enamel Hypocalcemia Aganglionic megacolon Specific learning disability Gastrointestinal hemorrhage Intestinal malrotation Asthma Carious teeth Autoimmunity Hand polydactyly Feeding difficulties in infancy Polyhydramnios Glaucoma Microphthalmia Splenomegaly Intellectual disability, mild Abnormality of the dentition Hydrocephalus Wide nasal bridge Asymmetric crying face Body odor Small face Preauricular pit Cholelithiasis Abnormality of the thorax Congenital contracture Tetany Multiple suture craniosynostosis Abnormal aortic arch morphology Hypertensive crisis Retinal arteriolar tortuosity Anorectal anomaly Abnormal pulmonary valve morphology Impaired T cell function Arrhinencephaly Small earlobe Abnormality of the pharynx Abnormal thrombocyte morphology Seborrheic dermatitis Hypoplasia of the thymus Corneal neovascularization Overfolded helix Atelectasis Varicose veins Abnormal eyelid morphology Multiple renal cysts Patellar dislocation Hypoparathyroidism Turricephaly Bipolar affective disorder Abnormal lung lobation Posterior embryotoxon Foot polydactyly Hyperthyroidism Dysphasia Acne Cupped ear Hemangioma Ventriculomegaly Abnormal cardiac septum morphology Limitation of joint mobility Elevated serum creatine phosphokinase Renal cyst Delayed eruption of teeth Single transverse palmar crease Sleep disturbance Everted lower lip vermilion Downturned corners of mouth Flat face Poor speech Pulmonic stenosis Synophrys Broad forehead Autistic behavior Coarctation of aorta Abnormality of the pinna Aggressive behavior Cerebral cortical atrophy Brachycephaly Limb muscle weakness Cardiomegaly Progressive muscle weakness Aortic root aneurysm Agenesis of corpus callosum Abnormality of refraction Diaphragmatic weakness Short nose Intellectual disability, severe Anteverted nares Hypoplasia of penis Stereotypy Congenital hip dislocation Bronchomalacia Preauricular skin tag Occipital myelomeningocele Interphalangeal joint contracture of finger Hip dislocation Facial palsy Polydactyly Hepatomegaly Cerebellar atrophy Flexion contracture Tracheobronchomalacia Exaggerated cupid's bow Conotruncal defect U-Shaped upper lip vermilion Persistence of primary teeth Tented upper lip vermilion Abnormal myelination Dysphagia Advanced eruption of teeth Abnormal renal morphology Thickened helices Self-mutilation Pulmonary artery stenosis Tracheomalacia Protruding tongue Natal tooth Supernumerary nipple Impulsivity Apathy Self-injurious behavior Abnormality of lipid metabolism Subcutaneous nodule Wheezing Pneumonia Abnormal cerebellum morphology Polyneuropathy Neurodegeneration Retinal dystrophy Paraplegia Spastic paraplegia Paralysis Mental deterioration EEG abnormality Reduced visual acuity Gait ataxia Hyperactivity Hypogonadism Dementia Visual loss Hemiparesis Encephalopathy Blindness Visual impairment Spasticity Ataxia Longitudinal vaginal septum Delayed tarsal ossification Hypoplastic fifth toenail Penile hypospadias Short 2nd toe Short first metatarsal Ulnar deviation of the 2nd finger Shortening of all middle phalanges of the fingers Hallux varus Peripheral demyelination Limb ataxia Abnormality of the urethra Adrenal hypoplasia High palate Cone monochromacy Elevated long chain fatty acids Blue cone monochromacy Monochromacy Psychotic episodes Mania Progressive spastic paraparesis Decreased circulating aldosterone level Myelopathy Vegetative state Cerebral edema Spinocerebellar tract degeneration Dyschromatopsia Urinary bladder sphincter dysfunction Hyperpigmentation of the skin Loss of speech Primary adrenal insufficiency Bulbar palsy Axonal degeneration Abnormality of color vision Adrenal insufficiency Emotional lability Abnormality of mitochondrial metabolism Incoordination Slurred speech Spastic paraparesis Paraparesis Truncal ataxia Leukodystrophy Pseudoepiphyses Uterus didelphys Kyphosis Joint swelling Mottled pigmentation Lower limb undergrowth Spinal deformities Bladder exstrophy Teratoma Deviation of finger Urinary retention Abnormality of the knee Neurogenic bladder Abnormal cortical bone morphology Abnormality of tibia morphology Chronic constipation Maternal diabetes Lipoma Transposition of the great arteries Clubbing of toes Hyperostosis Tracheoesophageal fistula Abnormality of the genitourinary system Holoprosencephaly Type I diabetes mellitus Meningitis Situs inversus totalis Large fontanelles Omphalocele Osteoarthritis Eczema Talipes Joint stiffness Diabetes mellitus Cyclopia Absence of the sacrum Small thenar eminence Abnormal dermatoglyphics Pyelonephritis Chordee Ureteropelvic junction obstruction Delayed ossification of carpal bones Bicornuate uterus Short 1st metacarpal Short hallux Short 5th finger Synostosis of carpal bones Bifid scrotum Proximal placement of thumb Abnormality of the urinary system Abnormality of the outer ear Sacral dimple Finger clinodactyly Rectal abscess Hemisacrum Exstrophy Sirenomelia Sacral lipoma Sacral meningocele Rectal fistula Cloacal exstrophy Anterior sacral meningocele Short thumb Presacral teratoma Hydromyelia Clinodactyly Microtia Short foot Postaxial hand polydactyly Gait disturbance Pectus excavatum Renal tubular acidosis Atrial fibrillation Ventricular tachycardia Hyperlipidemia Aminoaciduria Exercise intolerance Abnormal autonomic nervous system physiology Fasciculations Bradycardia Lymphedema Hypohidrosis Anorexia Abnormal lung morphology Mitral regurgitation Palpitations Myocardial infarction Thick lower lip vermilion Progressive hearing impairment Ventricular hypertrophy Nephrotic syndrome Mitral valve prolapse Abnormality of the cardiovascular system Syncope Sudden cardiac death Chest pain Abdominal distention Muscle cramps Nephropathy Hematuria Thick vermilion border Thick eyebrow Tachycardia Abnormal intestine morphology Corneal dystrophy Stage 5 chronic kidney disease Polyuria Glycosuria Abnormal heart valve morphology Glomerulopathy Telangiectasia of the skin Celiac disease Orthostatic hypotension Progressive sensorineural hearing impairment Interstitial pulmonary abnormality Elevated erythrocyte sedimentation rate Coronary artery atherosclerosis Bundle branch block Loss of consciousness Emphysema Anhidrosis Diabetes insipidus Ischemic stroke Tricuspid regurgitation Impaired vibratory sensation Clubbing Heart murmur Polydipsia Glomerulosclerosis Hemiplegia Prominent supraorbital ridges Chronic kidney disease Atrioventricular block Easy fatigability Tinnitus Ventricular arrhythmia Reduced bone mineral density Nausea Vertigo Proptosis Microretrognathia Craniofacial hyperostosis Osteolytic defects of the phalanges of the hand Arachnoid cyst Arnold-Chiari type I malformation Prominent metopic ridge Thickened calvaria Slender long bone Vertebral fusion Neurofibromas Atresia of the external auditory canal Coarse hair Arnold-Chiari malformation Sleep apnea Osteolysis Narrow palate Generalized osteosclerosis Wormian bones Increased bone mineral density Narrow face Abnormal vertebral morphology Dental crowding Abnormal form of the vertebral bodies Low posterior hairline Abnormality of the skin Iris coloboma Joint hypermobility Dolichocephaly Scarring Apnea Kyphoscoliosis Abnormality of the rib cage Low back pain Paresthesia Abdominal pain Delayed puberty Nausea and vomiting Malabsorption Pruritus Papule Corneal opacity Cough Stroke Skin rash Abnormality of the kidney Abnormality of the nervous system Proteinuria Carcinoma Hyperkeratosis Hyperhidrosis Biconcave vertebral bodies Short nasal bridge Tethered cord Sclerosis of skull base Large sella turcica Dural ectasia Abnormality of the middle ear ossicles Basilar impression Anemia Congestive heart failure Hypertension Fever Fatigue Cardiomyopathy Vomiting Diarrhea Abnormality of lysosomal metabolism


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