Ventricular septal defect, and Renal cyst

Diseases related with Ventricular septal defect and Renal cyst

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

Top matches:

Ventriculomegaly with cystic kidney disease is a severe autosomal recessive developmental disorder characterized by onset in utero of dilated cerebral ventricles and microscopic renal tubular cysts. The pregnancies of affected individuals are associated with increased alpha-fetoprotein (AFP). Most affected pregnancies have been terminated (summary by Slavotinek et al., 2015).See also {602200} for a disorder characterized by ventriculomegaly and defects of the radius and kidney.

VENTRICULOMEGALY-CYSTIC KIDNEY DISEASE Is also known as congenital nephrosis-cerebral ventriculomegaly syndrome|vmckd

Related symptoms:

  • Seizures
  • Ventricular septal defect
  • Ventriculomegaly
  • Hydrocephalus
  • Renal insufficiency


SOURCES: ORPHANET OMIM MENDELIAN

More info about VENTRICULOMEGALY-CYSTIC KIDNEY DISEASE

Meckel syndrome is an autosomal recessive pre- or perinatal lethal disorder characterized by a combination of renal cysts and variably associated features including developmental anomalies of the central nervous system (typically occipital encephalocele), hepatic ductal dysplasia and cysts, and postaxial polydactyly (summary by Baala et al., 2007).For a more complete phenotypic description and information on genetic heterogeneity of Meckel syndrome, see MKS1 (OMIM ).

MECKEL SYNDROME, TYPE 4; MKS4 Is also known as meckel-gruber syndrome, type 4

Related symptoms:

  • Microcephaly
  • Cleft palate
  • Intrauterine growth retardation
  • Ventricular septal defect
  • Hypoplasia of the corpus callosum


SOURCES: OMIM MENDELIAN

More info about MECKEL SYNDROME, TYPE 4; MKS4

Low match PENILE AGENESIS

Penile agenesis is a rare urogenital tract malformation characterized by complete congenital absence of the phallus. It is usually accompanied by a well-developed scrotum and presence of a skin tag at the anal verge (with or without a urethral meatal opening within it). Often, other genitourinary (e.g. cryptorchidism, renal agenesis and dysplasia, urinary reflux, prostate agenesis) as well as non-genitourinary abnormalities (including skeletal and neural disorders, anal stenosis, imperforate anus, cardiac defects) are associated.

PENILE AGENESIS Is also known as penis agenesis|aphallia|familial incomplete male pseudohermaphroditism, type 2|male pseudohermaphroditism due to 5-alpha-reductase deficiency

Related symptoms:

  • Cryptorchidism
  • Depressed nasal bridge
  • Ventricular septal defect
  • Atrial septal defect
  • Short nose


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about PENILE AGENESIS

Other less relevant matches:

McKusick-Kaufman syndrome is a very rare, genetic developmental disorder presenting in the neonatal period characterized by genitourinary malformations, polydactyly, and more rarely, congenital heart disease or gastrointestinal malformations.

MCKUSICK-KAUFMAN SYNDROME Is also known as kaufman-mckusick syndrome|hydrometrocolpos-postaxial polydactyly syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Failure to thrive
  • Cleft palate


SOURCES: ORPHANET MENDELIAN

More info about MCKUSICK-KAUFMAN SYNDROME

Autosomal recessive polycystic kidney disease (ARPKD) is an inherited disorder characterised by the development of cysts affecting the collecting ducts. It is frequently associated with hepatic involvement.

AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY DISEASE Is also known as polycystic kidney and hepatic disease 1|polycystic kidney disease, infantile, type i|pkhd1|arpkd|ar-pkd|polycystic kidney disease, autosomal recessive|polycystic kidney disease 4 with or without hepatic disease|pkd3, formerly

Related symptoms:

  • Micrognathia
  • Hypertension
  • Hepatomegaly
  • Ventricular septal defect
  • Respiratory insufficiency


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY DISEASE

Brachydactyly-short stature-retinitis pigmentosa syndrome is a rare, genetic, congenital limb malformation syndrome characterized by mild to severe short stature, brachydactyly, and retinal degeneration (usually retinitis pigmentosa), associated with variable intellectual disability, develomental delays, and craniofacial anomalies.

BRACHYDACTYLY-SHORT STATURE-RETINITIS PIGMENTOSA SYNDROME Is also known as metaphyseal chondrodysplasia with retinitis pigmentosa

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Micrognathia
  • Low-set ears


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about BRACHYDACTYLY-SHORT STATURE-RETINITIS PIGMENTOSA SYNDROME

Related symptoms:

  • Global developmental delay
  • Short stature
  • Microcephaly
  • Growth delay
  • Failure to thrive


SOURCES: OMIM MENDELIAN

More info about SECKEL SYNDROME 9; SCKL9

Thauvin-Robinet-Faivre syndrome is an autosomal recessive disorder characterized by generalized overgrowth, mainly of height, and mildly delayed psychomotor development with mild or severe learning difficulties. More variable features may include congenital heart defects, kidney abnormalities, and skeletal defects. Patients may have an increased risk for Wilms tumor (summary by Akawi et al., 2016).

TALL STATURE-INTELLECTUAL DISABILITY-RENAL ANOMALIES SYNDROME Is also known as thauvin-robinet-faivre syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Hypertelorism
  • Neoplasm


SOURCES: ORPHANET OMIM MENDELIAN

More info about TALL STATURE-INTELLECTUAL DISABILITY-RENAL ANOMALIES SYNDROME

Related symptoms:

  • Strabismus
  • Cleft palate
  • Cryptorchidism
  • Hepatomegaly
  • Ventricular septal defect


SOURCES: ORPHANET MENDELIAN

More info about BECKWITH-WIEDEMANN SYNDROME DUE TO CDKN1C MUTATION

Autosomal recessive renal tubular dysgenesis is a severe disorder of renal tubular development characterized by persistent fetal anuria and perinatal death, probably due to pulmonary hypoplasia from early-onset oligohydramnios (the Potter phenotype) (Gribouval et al., 2005). Absence or paucity of differentiated proximal tubules is the histopathologic hallmark of the disorder and may be associated with skull ossification defects.

RENAL TUBULAR DYSGENESIS; RTD Is also known as primitive renal tubule syndrome

Related symptoms:

  • Intellectual disability
  • Microcephaly
  • Hypertelorism
  • Ventricular septal defect
  • Respiratory insufficiency


SOURCES: OMIM ORPHANET MENDELIAN

More info about RENAL TUBULAR DYSGENESIS; RTD

Top 5 symptoms//phenotypes associated to Ventricular septal defect and Renal cyst

Symptoms // Phenotype % cases
Atrial septal defect Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Microcephaly Uncommon - Between 30% and 50% cases
Anal atresia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Oligohydramnios Cryptorchidism Enlarged kidney Short stature Cleft palate Pulmonary hypoplasia Macrotia Abnormality of the kidney Micrognathia Respiratory failure Premature birth Renal insufficiency Polydactyly Polyhydramnios

Rare Symptoms - Less than 30% cases

Inguinal hernia Hepatomegaly Potter facies Strabismus Chronic lung disease Hypertelorism Low-set ears Respiratory distress Urogenital sinus anomaly Macroglossia Multiple renal cysts Large for gestational age Abnormal lung morphology Renal hypoplasia/aplasia Overgrowth Failure to thrive Ambiguous genitalia Brachydactyly Splenomegaly Patent ductus arteriosus Tetralogy of Fallot Multicystic kidney dysplasia Hernia Respiratory insufficiency Hydronephrosis Small nail Postaxial hand polydactyly Renal dysplasia Protruding ear Talipes equinovarus Postaxial polydactyly Dilatation Downslanted palpebral fissures Hydrocephalus Hypospadias Macrocephaly Ventriculomegaly Intrauterine growth retardation Congenital diaphragmatic hernia Decreased fetal movement Convex nasal ridge Asthma Hearing impairment Long face Mitral valve prolapse Tall stature Small for gestational age Intestinal malrotation Spina bifida Spina bifida occulta Nephroblastoma Abnormal cardiac septum morphology Pachygyria Round face Scaphocephaly Pulmonary artery hypoplasia Neoplasm Recurrent lower respiratory tract infections Sensorineural hearing impairment Abnormal facial shape Epicanthus Abnormality of the skeletal system Intellectual disability, mild Midface retrusion Abnormal heart morphology Pes planus Hypertrichosis Cortical gyral simplification Deeply set eye Coloboma Clitoral hypertrophy Narrow face Recurrent urinary tract infections Talipes Astigmatism Thick vermilion border Neutropenia Seizures Hypoglycemia Large hands Renal tubular dysfunction Clinodactyly Abnormality of the pinna Joint hyperflexibility Nephropathy Hypotension Choanal atresia Preauricular skin tag Bilateral single transverse palmar creases Abnormality of the urinary system Glomerulonephritis Preauricular pit Adrenal insufficiency Absent nipple Auricular pit Periventricular leukomalacia Interrupted aortic arch Proximal tubulopathy Decreased circulating renin level Right aortic arch Accessory spleen Widely patent fontanelles and sutures Absent gallbladder Anuria Aplasia of the thymus Infra-orbital crease Vascular ring Renal magnesium wasting Postauricular pit Prune belly Bowing of the legs Supernumerary nipple Long foot Varicose veins Retinal coloboma Long hallux Renal malrotation Bifid ureter Coarse facial features Umbilical hernia Apnea Omphalocele Abnormality of the face Abnormality of the outer ear Psoriasiform dermatitis Neuroblastoma Embryonal neoplasm Syringomyelia Central hypotonia Nevus flammeus Neonatal hypoglycemia Abnormality of the vasculature Skin tags Diastasis recti Hemihypertrophy Visceromegaly Abnormality of earlobe Tethered cord Abdominal wall defect Anterior creases of earlobe Recurrent respiratory infections Azotemia Immunodeficiency Atrophy of the spinal cord Bilateral talipes equinovarus Hydroureter Decreased fertility Male pseudohermaphroditism Maternal diabetes Abnormality of the endocrine system Cystic renal dysplasia Perineal hypospadias Ambiguous genitalia, male Bilateral renal agenesis Bilateral renal hypoplasia Bifid scrotum Anorectal anomaly Abnormality of the bladder Bilateral lung agenesis Unilateral renal hypoplasia Fetal pyelectasis Rectal fistula Incomplete male pseudohermaphroditism Cloacal abnormality Absent penis Urethral atresia, male Urethral fistula Tracheoesophageal fistula Abnormality of the voice Finger syndactyly Anencephaly Nephrotic syndrome Heterotopia Renal corticomedullary cysts Periventricular gray matter heterotopia Hypoplasia of the corpus callosum Microphthalmia Dandy-Walker malformation Encephalocele Bowing of the long bones Molar tooth sign on MRI Occipital encephalocele Meningocele Scrotal hypoplasia Agenesis of cerebellar vermis Bile duct proliferation Meningoencephalocele Depressed nasal bridge Short nose Abnormality of metabolism/homeostasis Posteriorly rotated ears Micropenis Hypoplasia of penis Gynecomastia Abnormality of the hair High palate Aganglionic megacolon Growth delay Blindness Biliary tract abnormality Portal fibrosis Hypersplenism Hematemesis Periportal fibrosis Hypoplasia of the ear cartilage Absence of renal corticomedullary differentiation Feeding difficulties Delayed speech and language development Frontal bossing Short neck Malar flattening Hepatic cysts Rod-cone dystrophy Intellectual disability, moderate Craniosynostosis Nyctalopia Retinal degeneration Short distal phalanx of finger Short metacarpal Underdeveloped nasal alae Horseshoe kidney Congenital blindness Metaphyseal chondrodysplasia Tubulointerstitial fibrosis Pancreatic cysts Abnormality of the metacarpal bones Abnormality of the liver Hypoplastic left heart Tarsal synostosis Postaxial foot polydactyly Ectopic anus Urethral stricture Hydrometrocolpos Glandular hypospadias Hypertension Congestive heart failure Hepatosplenomegaly Low-set, posteriorly rotated ears Scarring Congenital hepatic fibrosis Stage 5 chronic kidney disease Dehydration Depressed nasal ridge Cholestasis Hepatic fibrosis Chronic kidney disease Polycystic kidney dysplasia Portal hypertension Atelectasis Esophageal varix Cholangitis Renotubular dysgenesis


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