Hydrocephalus, and Vesicoureteral reflux

Diseases related with Hydrocephalus and Vesicoureteral reflux

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

Top matches:

High match BRESEK SYNDROME

X-linked mental retardation, Reish type is characterised by Brain anomalies, severe mental Retardation, Ectodermal dysplasia, Skeletal deformities (vertebral anomalies, scoliosis, polydactyly), Ear/eye anomalies (maldevelopment, small optic nerves, low set and large ears with hearing loss) and Kidney dysplasia/hypoplasia (giving the acronym BRESEK syndrome).

BRESEK SYNDROME Is also known as bresheck syndrome

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Scoliosis
  • Growth delay


SOURCES: MESH ORPHANET MENDELIAN

More info about BRESEK SYNDROME

1q44 microdeletion syndrome is a newly described syndrome associated with facial dysmorphism, developmental delay, in particular of expressive speech, seizures and hypotonia.

1Q44 MICRODELETION SYNDROME Is also known as del(1)(q44)|monosomy 1q44

Related symptoms:

  • Global developmental delay
  • Short stature
  • Microcephaly
  • Scoliosis
  • Growth delay


SOURCES: ORPHANET MENDELIAN

More info about 1Q44 MICRODELETION SYNDROME

Renal coloboma syndrome (RCS) is a genetic condition characterized by optic nerve dysplasia and renal hypodysplasia.

RENAL COLOBOMA SYNDROME Is also known as renal-coloboma syndrome|congenital anomalies of the kidney and urinary tract with or without ocular abnormalities|optic coloboma, vesicoureteral reflux, and renal anomalies|papillo-renal syndrome|coloboma of optic nerve with renal disease|renal-coloboma s

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Hearing impairment
  • Nystagmus


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about RENAL COLOBOMA SYNDROME

Other less relevant matches:

High match BOR SYNDROME

Branchiootorenal (BOR) syndrome is characterized by branchial arch anomalies (branchial clefts, fistulae, cysts), hearing impairment (malformations of the auricle with pre-auricular pits, conductive or sensorineural hearing impairment), and renal malformations (urinary tree malformation, renal hypoplasia or agenesis, renal dysplasia, renal cysts).

BOR SYNDROME Is also known as melnick-fraser syndrome|branchiootorenal syndrome|branchiootorenal dysplasia

Related symptoms:

  • Hearing impairment
  • Sensorineural hearing impairment
  • Cleft palate
  • High palate
  • Myopia


SOURCES: ORPHANET OMIM MENDELIAN

More info about BOR SYNDROME

1p31p32 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the short arm of chromosome 1, characterized by developmental delay, corpus callosum agenesis/hypoplasia and craniofacial dysmorphism, such as macrocephaly (caused by hydrocephalus or ventriculomegaly), low-set ears, anteverted nostrils and micrognathia. Urinary tract defects (e.g. vesicoureteral reflux, urinary incontinence) are also frequently associated. Other reported variable manifestations include hypotonia, tethered spinal cord, Chiari type I malformation and seizures.

1P31P32 MICRODELETION SYNDROME Is also known as monosomy 1p31p32|del(1)(p31p32)

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive


SOURCES: OMIM ORPHANET MENDELIAN

More info about 1P31P32 MICRODELETION SYNDROME

High match KNOBLOCH SYNDROME

Knobloch syndrome (KS) is defined by vitreoretinal and macular degeneration, and occipital encephalocele.

KNOBLOCH SYNDROME Is also known as retinal detachment and occipital encephalocele|knobloch-layer syndrome|retinal detachment-occipital encephalocele syndrome|kno

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Nystagmus


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about KNOBLOCH SYNDROME

1q21.1 microdeletion syndrome is a newly described recurrent deletion syndrome with variable clinical manifestations but without the clinical picture of thrombocytopenia - absent radius (TAR) syndrome.

1Q21.1 MICRODELETION SYNDROME Is also known as monosomy 1q21.1|del(1)(q21)

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about 1Q21.1 MICRODELETION SYNDROME

Robinow syndrome, a rare skeletal dysplasia syndrome, is characterized by dysmorphic features resembling a fetal face, mesomelic limb shortening, hypoplastic external genitalia in males, and renal and vertebral anomalies (summary by Roifman et al., 2015).For a discussion of genetic heterogeneity of Robinow syndrome, see RRS (OMIM ).

ROBINOW SYNDROME, AUTOSOMAL DOMINANT 1; DRS1 Is also known as robinow dwarfism|acral dysostosis with facial and genital abnormalities|fetal face syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about ROBINOW SYNDROME, AUTOSOMAL DOMINANT 1; DRS1

Cutis marmorata telangiectatica congenita (CMTC) is a congenital localized or generalized vascular anomaly characterized by a persistent cutis marmorata pattern with a marbled bluish to deep purple appearance, spider nevus-like telangiectasia, phlebectasia and, occasionally, ulceration and atrophy of the affected skin.

CUTIS MARMORATA TELANGIECTATICA CONGENITA Is also known as megalencephaly-cutis marmorata telangiectatica congenita|cmtc|mcmtc|megalencephaly-capillary malformation syndrome|macrocephaly-cutis marmorata telangiectatica congenita|mcm|macrocephaly-capillary malformation

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about CUTIS MARMORATA TELANGIECTATICA CONGENITA

VACTERL/VATER is an association of congenital malformations typically characterized by the presence of at least three of the following: vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities.

VACTERL/VATER ASSOCIATION Is also known as vacterl association|vater association

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Scoliosis
  • Growth delay
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about VACTERL/VATER ASSOCIATION

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

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Hydronephrosis Common - Between 50% and 80% cases
Scoliosis Common - Between 50% and 80% cases
Frontal bossing Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Cryptorchidism Epicanthus High palate Microphthalmia Seizures Ventriculomegaly Patent ductus arteriosus Strabismus Short stature Macrocephaly Generalized hypotonia Renal dysplasia Muscular hypotonia Failure to thrive Renal hypoplasia Growth delay Low-set ears Intrauterine growth retardation Multicystic kidney dysplasia Hearing impairment Arnold-Chiari type I malformation Ureteropelvic junction obstruction Intestinal malrotation Retrognathia Preauricular skin tag Abnormal cardiac septum morphology Depressed nasal bridge Retinal detachment Joint hyperflexibility Abnormality of the kidney Sensorineural hearing impairment Cataract Joint laxity Myopia Wide nasal bridge Abnormal facial shape Hypertelorism Microcephaly Cleft palate Polymicrogyria Polydactyly Inguinal hernia Hemivertebrae Downslanted palpebral fissures Hernia Upslanted palpebral fissure Agenesis of corpus callosum Micrognathia

Rare Symptoms - Less than 30% cases

Syringomyelia Attention deficit hyperactivity disorder Pulmonary hypoplasia Cutis marmorata Flat face Dextrocardia Cortical dysplasia Occipital encephalocele Thin upper lip vermilion Facial asymmetry Narrow face Dysphagia Renal malrotation Lens luxation Capillary hemangioma Nevus flammeus Renal agenesis Hyperactivity Finger syndactyly Dilatation Postnatal growth retardation Absent septum pellucidum Overgrowth Midface retrusion Anteverted nares Short nose Abnormal heart morphology Ectopic kidney Ventricular septal defect Leukemia Abnormality of cardiovascular system morphology Bulbous nose Cognitive impairment Syndactyly Motor delay Prominent forehead Short chin Broad forehead Visual impairment Glaucoma Deeply set eye Abnormality of the genital system Progressive visual loss Transposition of the great arteries Smooth philtrum Toe syndactyly Joint hypermobility Thin vermilion border Abnormal vertebral morphology Renal insufficiency Edema Hypertension Horseshoe kidney Nystagmus Recurrent urinary tract infections Broad thumb Macular degeneration High forehead Talipes equinovarus Intellectual disability, severe Long philtrum Hemangioma Alopecia Postaxial hand polydactyly Chorioretinal atrophy Iris coloboma Oral cleft Small hand Wide mouth Cutaneous syndactyly Umbilical hernia Nail dysplasia Skeletal dysplasia Shock Purpura Telangiectasia Cutis laxa Scarring Downturned corners of mouth Ischemic stroke Arnold-Chiari malformation Reduced bone mineral density Redundant skin Nephroblastoma Dental malocclusion Macroglossia Hypodontia Nevus Short palm Abnormality of digit Large for gestational age Wide nose Delayed eruption of teeth Abnormality of the skin Radial deviation of finger Ascites Narrow palate Hypergonadotropic hypogonadism Renal duplication Triangular mouth Clitoral hypoplasia Short middle phalanx of the 5th finger Elevated circulating follicle stimulating hormone level Bifid tongue Broad toe Communicating hydrocephalus Misalignment of teeth Hypoplastic labia majora Shawl scrotum Hypoplastic nipples Increased number of teeth Long palpebral fissure Aplasia of the middle phalanx of the hand Wide anterior fontanel Thick vermilion border Long eyelashes Postaxial polydactyly Limb undergrowth Stroke Abnormality of the nervous system Cone-shaped epiphysis Hypothyroidism Arrhythmia Neoplasm Gingival overgrowth Dental crowding Absent penis Right ventricular outlet obstruction Bifid distal phalanx of toe Short hard palate Rhizomelia Duplication of the distal phalanx of hand Mesomelia Hemimegalencephaly Aplasia/Hypoplasia of the skin Bundle branch block Esophageal atresia Anencephaly Aplasia/Hypoplasia of the radius Absent radius Wheezing Abnormality of the sternum Non-midline cleft lip Vertebral segmentation defect Hypoplastic left heart Right bundle branch block Preaxial hand polydactyly Missing ribs Tracheoesophageal fistula Unilateral renal agenesis Bifid scrotum Triphalangeal thumb Radioulnar synostosis Preaxial polydactyly Laryngomalacia Hypoplasia of the radius Tachypnea Abnormality of the outer ear Aplasia/Hypoplasia of the lungs Single umbilical artery Situs inversus totalis Lower limb undergrowth Asymmetric crying face Abnormal tracheobronchial morphology Perineal fistula Potter facies Abnormality of the gallbladder Hemifacial hypoplasia Absence of the sacrum Anorectal anomaly Abnormality of the urethra Abnormality of the intervertebral disk Vertebral clefting Tracheal stenosis Laryngeal stenosis Abnormality of the nasopharynx Abnormal sacrum morphology Supernumerary ribs Tethered cord Cavernous hemangioma Abnormality of female internal genitalia Abnormality of the pancreas Atelectasis Rectovaginal fistula Duodenal atresia Spina bifida Short thumb Multiple cafe-au-lait spots Atrial flutter Capillary malformation Short lower limbs Subcutaneous hemorrhage Perisylvian polymicrogyria Asymmetric growth Right aortic arch Skin erosion Arterial stenosis Cavum septum pellucidum Dilation of lateral ventricles Abnormality of the upper limb Micropenis Hemihypertrophy Arteriovenous malformation Abnormality of the lower limb Large earlobe Varicose veins Meningioma Megalencephaly Severe failure to thrive Severe postnatal growth retardation Telangiectasia of the skin Facial hemangioma Leukocoria Large fontanelles Anal atresia Omphalocele Choanal atresia Small nail Abnormality of the ribs Congenital diaphragmatic hernia Ambiguous genitalia Hypoplasia of penis Tetralogy of Fallot Premature birth Tachycardia Respiratory tract infection Progressive macrocephaly Low-set, posteriorly rotated ears Polyhydramnios Pneumonia Hypospadias Congestive heart failure Atrial septal defect Anemia Blue nevus Cutis marmorata telangiectatica congenita Vascular ring Displacement of the external urethral meatus Proptosis Aplasia cutis congenita Hypogonadism Bifid uvula Polycystic kidney dysplasia Atresia of the external auditory canal Renal hypoplasia/aplasia Congenital hip dislocation Atrial fibrillation Bilateral sensorineural hearing impairment Oligohydramnios Microdontia Long face Epiphora Microtia Paralysis Abnormality of the pinna Facial palsy Conductive hearing impairment Ureterovesical junction obstruction Recurrent pyelonephritis Macular hyperpigmentation Orbital cyst Cupped ear Preauricular pit Scleral staphyloma Arteria lusoria Lacrimal duct aplasia Euthyroid goiter Unilateral renal hypoplasia Bilateral renal dysplasia Renal steatosis Hypoplasia of the cochlea Cochlear malformation Branchial fistula Branchial cyst Premature graying of hair Body odor Abnormality of the middle ear ossicles Bilateral renal agenesis Overbite Lacrimal duct stenosis Lacrimation abnormality Stenosis of the external auditory canal External ear malformation Mixed hearing impairment Morning glory anomaly Optic nerve dysplasia Abnormality of the cerebrum Delayed speech and language development Reduced visual acuity Exaggerated cupid's bow Optic disc hypoplasia Prominent metopic ridge Biparietal narrowing Synophrys Generalized tonic-clonic seizures Telecanthus Hypoplasia of the bladder Coloboma Abnormality of brain morphology Optic nerve hypoplasia Plagiocephaly Aganglionic megacolon Decreased testicular size Convex nasal ridge Ichthyosis Hypotrichosis Protruding ear Proteinuria Confusion Mild proteinuria Abnormality of the vasculature Bilateral renal hypoplasia Platybasia Pyelonephritis High-frequency hearing impairment Retinal coloboma Optic nerve coloboma Hydrocele testis Elevated serum creatinine Multiple renal cysts Soft skin Stage 5 chronic kidney disease Severe vision loss Visual field defect Nephritis Hyperextensible skin Chronic kidney disease Abnormality of the genitourinary system Nephrolithiasis Gliosis Nephropathy Abnormality of the renal collecting system Abnormal lacrimal duct morphology Posteriorly rotated ears Abnormal vitreous humor morphology Depressivity Behavioral abnormality Cephalocele Bifid ureter Occipital meningocele Peripapillary atrophy Exudative retinal detachment Cerebellar malformation Phthisis bulbi Autism Lymphangioma Band keratopathy Macular hypoplasia Total anomalous pulmonary venous return Aplasia cutis congenita of scalp Anomalous pulmonary venous return Large forehead Calvarial skull defect Vitreoretinopathy Clinodactyly of the 5th finger Anxiety Acute lymphoblastic leukemia Truncus arteriosus Delayed skeletal maturation Clinodactyly Pectus excavatum Malar flattening Short neck Brachydactyly Ankyloglossia Interrupted aortic arch Broad hallux phalanx Foot polydactyly Aggressive behavior High hypermetropia Broad hallux Hand polydactyly Schizophrenia Coarctation of aorta Sleep disturbance Short foot Autistic behavior Intellectual disability, moderate Meningocele Ectopia lentis Incomplete partition of the cochlea type II Retinopathy Obsessive-compulsive behavior Overfolded helix Sparse eyebrow Abnormality of the urinary system Aplasia/Hypoplasia of the corpus callosum Pigmentary retinopathy Hip dysplasia Urinary incontinence Craniosynostosis Arachnoid cyst Jaundice Narrow mouth Hypertonia Hypoplasia of the corpus callosum Abnormality of the skeletal system Gustatory lacrimation Enlarged cochlear aqueduct Cholesteatoma Dilatated internal auditory canal Narrow nose Broad face Pyloric stenosis Nyctalopia Corneal dystrophy Horizontal nystagmus Abnormality of the hair Pachygyria Encephalocele Thin skin High myopia Retinal degeneration Congenital cataract Mental deterioration Metopic synostosis Visual loss Cerebral atrophy Cerebellar atrophy Blindness Ataxia Partial absence of the septum pellucidum Craniofacial asymmetry Intraventricular hemorrhage Ureterocele Patent urachus


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Rod-cone dystrophy and Cerebellar atrophy, related diseases and genetic alterations Neuroblastoma and High forehead, related diseases and genetic alterations Congestive heart failure and Atrial septal defect, related diseases and genetic alterations Tremor and Eczema, related diseases and genetic alterations Muscle weakness and Infertility, related diseases and genetic alterations Ataxia and Hyperlordosis, related diseases and genetic alterations