Hydrocephalus, and Hydronephrosis

Diseases related with Hydrocephalus and Hydronephrosis

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


Top matches:

High match MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13; MDDGA13


Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A) is a autosomal recessive disorder associated with severe neurologic defects and resulting in early infantile death. The phenotype includes the alternative clinical designations Walker-Warburg syndrome (WWS) and muscle-eye-brain disease (MEB). The disorder represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1 ), collectively known as dystroglycanopathies (summary by Buysse et al., 2013).For a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 (OMIM ).

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13; MDDGA13 Is also known as walker-warburg syndrome or muscle-eye-brain disease, b3gnt1-related

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Cryptorchidism
  • Spasticity


SOURCES: OMIM MENDELIAN

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13; MDDGA13

High match STROMME SYNDROME; STROMS


Stromme syndrome is an autosomal recessive congenital disorder affecting multiple systems with features of a ciliopathy. Affected individuals typically have some type of intestinal atresia, variable ocular abnormalities, microcephaly, and sometimes involvement of other systems, including renal and cardiac. In some cases, the condition is lethal in early life, whereas other patients show normal survival with or without mild cognitive impairment (summary by Filges et al., 2016).

STROMME SYNDROME; STROMS Is also known as jejunal atresia with microcephaly and ocular anomalies|apple peel syndrome with microcephaly and ocular anomalies|ciliary dyskinesia, primary, 31, formerly|cild31, formerly

Related symptoms:

  • Intellectual disability
  • Microcephaly
  • Hypertelorism
  • Micrognathia
  • Cleft palate


SOURCES: MESH OMIM MENDELIAN

More info about STROMME SYNDROME; STROMS

High match RENAL COLOBOMA 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

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Other less relevant matches:

High match FANCONI ANEMIA, COMPLEMENTATION GROUP L; FANCL


Fanconi anemia (FA) is a clinically and genetically heterogeneous disorder that causes genomic instability. Characteristic clinical features include developmental abnormalities in major organ systems, early-onset bone marrow failure, and a high predisposition to cancer. The cellular hallmark of FA is hypersensitivity to DNA crosslinking agents and high frequency of chromosomal aberrations pointing to a defect in DNA repair (summary by Deakyne and Mazin, 2011).For additional general information and a discussion of genetic heterogeneity of Fanconi anemia, see {227650}.

Related symptoms:

  • Global developmental delay
  • Growth delay
  • Hypertelorism
  • Neoplasm
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about FANCONI ANEMIA, COMPLEMENTATION GROUP L; FANCL

High match PAPILLOMA OF CHOROID PLEXUS; CPP


Choroid plexus tumors are of neuroectodermal origin and range from benign choroid plexus papillomas (CPPs) to malignant choroid carcinomas (CPCs). These rare tumors generally occur in childhood, but have also been reported in adults. Patients typically present with signs and symptoms of increased intracranial pressure including headache, hydrocephalus, papilledema, nausea, vomiting, cranial nerve deficits, gait impairment, and seizures (summary by Safaee et al., 2013).

PAPILLOMA OF CHOROID PLEXUS; CPP Is also known as choroid plexus papilloma

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hypertelorism
  • Neoplasm
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about PAPILLOMA OF CHOROID PLEXUS; CPP

High match VACTERL ASSOCIATION, X-LINKED, WITH OR WITHOUT HYDROCEPHALUS; VACTERLX


VACTERL is an acronym for vertebral anomalies (similar to those of spondylocostal dysplasia), anal atresia, cardiac malformations, tracheoesophageal fistula, renal anomalies (urethral atresia with hydronephrosis), and limb anomalies (hexadactyly, humeral hypoplasia, radial aplasia, and proximally placed thumb; see {192350}). Some patients may have hydrocephalus, which is referred to as VACTERL-H (Briard et al., 1984).

VACTERL ASSOCIATION, X-LINKED, WITH OR WITHOUT HYDROCEPHALUS; VACTERLX Is also known as vacterl-h, x-linked

Related symptoms:

  • Hypertelorism
  • Cleft palate
  • Ventricular septal defect
  • Hydrocephalus
  • Abnormality of cardiovascular system morphology


SOURCES: OMIM MENDELIAN

More info about VACTERL ASSOCIATION, X-LINKED, WITH OR WITHOUT HYDROCEPHALUS; VACTERLX

High match HYDROLETHALUS SYNDROME 1; HLS1


Related symptoms:

  • Micrognathia
  • Cleft palate
  • Low-set ears
  • Intrauterine growth retardation
  • Macrocephaly


SOURCES: MESH OMIM MENDELIAN

More info about HYDROLETHALUS SYNDROME 1; HLS1

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

High match HYPERPHOSPHATASIA-INTELLECTUAL DISABILITY SYNDROME


Hyperphosphatasia with mental retardation syndrome-1 is an autosomal recessive disorder characterized by mental retardation, various neurologic abnormalities such as seizures and hypotonia, and hyperphosphatasia. Other features include facial dysmorphism and variable degrees of brachytelephalangy (summary by Krawitz et al., 2010). The disorder is caused by a defect in glycosylphosphatidylinositol biosynthesis; see GPIBD1 (OMIM ). Genetic Heterogeneity of Hyperphosphatasia with Mental Retardation SyndromeSee also HPMRS2 (OMIM ), caused by mutation in the PIGO gene (OMIM ) on chromosome 9p13; HPMRS3 (OMIM ), caused by mutation in the PGAP2 gene (OMIM ) on chromosome 11p15; HPMRS4 (OMIM ), caused by mutation in the PGAP3 gene (OMIM ) on chromosome 17q12; HPMRS5 (OMIM ), caused by mutation in the PIGW gene (OMIM ) on chromosome 17q12; and HPMRS6 (OMIM ), caused by mutation in the PIGY gene (OMIM ) on chromosome 4q22.Knaus et al. (2018) provided a review of the main clinical features of the different types of HPMRS, noting that some patients have a distinct pattern of facial anomalies that can be detected by computer-assisted comparison, particularly those with mutations in the PIGV and PGAP3 genes. Individuals with HPMRS have variable increased 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 HPMRS and MCAHS (see, e.g., {614080}), 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 under the more encompassing term of 'GPI biosynthesis defects' (GPIBD).

HYPERPHOSPHATASIA-INTELLECTUAL DISABILITY SYNDROME Is also known as mabry syndrome|glycosylphosphatidylinositol biosynthesis defect 2|gpibd2

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about HYPERPHOSPHATASIA-INTELLECTUAL DISABILITY SYNDROME

High match 1P31P32 MICRODELETION 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

Top 5 symptoms//phenotypes associated to Hydrocephalus and Hydronephrosis

Symptoms // Phenotype % cases
Cleft palate Common - Between 50% and 80% cases
Seizures Uncommon - Between 30% and 50% cases
Hypertelorism Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Microphthalmia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Renal hypoplasia Agenesis of corpus callosum Abnormality of the pinna Global developmental delay Low-set ears Abnormal facial shape Micropenis Broad neck Wide nasal bridge Generalized hypotonia Microtia Cryptorchidism Anal atresia Hearing impairment Cognitive impairment Polydactyly Sensorineural hearing impairment Absent septum pellucidum Ventricular septal defect Macrocephaly Vesicoureteral reflux Abnormality of the kidney Intestinal malrotation Renal dysplasia

Rare Symptoms - Less than 30% cases


Ureteropelvic junction obstruction Renal insufficiency Renal malrotation Hypertension Growth delay Arnold-Chiari type I malformation Multicystic kidney dysplasia Neoplasm Myopia Horseshoe kidney Abnormality of the skeletal system Intrauterine growth retardation Cleft lip Thin upper lip vermilion Upslanted palpebral fissure Short nose Muscular hypotonia Cupped ear High palate Pulmonary hypoplasia Oral cleft Arteria lusoria Tracheoesophageal fistula Atresia of the external auditory canal Thin vermilion border Upper limb undergrowth Midface retrusion Atrial septal defect Talipes equinovarus Accessory spleen Esophageal atresia Bilateral renal hypoplasia Retrognathia Cerebellar hypoplasia Microcephaly Coloboma Anencephaly Cataract Preaxial polydactyly Micrognathia Hypoplasia of the corpus callosum Heterotopia Dandy-Walker malformation Optic nerve dysplasia Encephalocele Premature graying of hair Abnormality of the middle ear ossicles Bilateral renal agenesis Overbite Lacrimal duct stenosis Lacrimation abnormality Stenosis of the external auditory canal External ear malformation Epiphora Mixed hearing impairment Branchial cyst Preauricular pit Ectopic kidney Body odor Duodenal atresia Branchial fistula Cochlear malformation Hypoplasia of the cochlea Renal steatosis Bilateral renal dysplasia Polycystic kidney dysplasia Euthyroid goiter Lacrimal duct aplasia Abnormality of the renal collecting system Abnormality of the cerebrum Abnormal lacrimal duct morphology Incomplete partition of the cochlea type II Dilatated internal auditory canal Cholesteatoma Enlarged cochlear aqueduct Unilateral renal hypoplasia Narrow face Renal hypoplasia/aplasia Preaxial foot polydactyly Duplication of phalanx of hallux Laryngeal hypoplasia Severe hydrocephalus Arrhinencephaly Abnormal vagina morphology Bifid nose Complete atrioventricular canal defect Abnormal cortical gyration Agenesis of the diaphragm Tracheal stenosis Bilateral cleft lip and palate Bilateral cleft lip Median cleft lip Abnormal lung lobation Preaxial hand polydactyly Holoprosencephaly Bifid uterus Adrenal gland dysgenesis Congenital hip dislocation Bifid uvula Elevated serum creatine phosphokinase Preauricular skin tag Atrial fibrillation Bilateral sensorineural hearing impairment Oligohydramnios Microdontia Renal agenesis Flat face Cleft in skull base Long face Paralysis Facial palsy Conductive hearing impairment Dysphagia Muscular dystrophy Proximal tibial hypoplasia Gustatory lacrimation Malar flattening Intellectual disability, severe Jaundice Polymicrogyria Facial asymmetry Broad forehead Attention deficit hyperactivity disorder Retinopathy Craniosynostosis Narrow mouth Hip dysplasia Hyperactivity Prominent forehead Inguinal hernia Hernia Dilatation Hypertonia Anteverted nares Urinary incontinence Overgrowth Frontal bossing Narrow nose Craniofacial asymmetry Intraventricular hemorrhage Ureterocele Metopic synostosis Broad face Arachnoid cyst Syringomyelia Pigmentary retinopathy Cutis marmorata Obsessive-compulsive behavior Overfolded helix Sparse eyebrow Abnormality of the urinary system Aplasia/Hypoplasia of the corpus callosum Short chin Ventriculomegaly Downslanted palpebral fissures Blindness Autistic behavior Inability to walk Short distal phalanx of finger Cleft upper lip Severe global developmental delay Short philtrum Abnormality of the liver Abnormality of the nervous system Highly arched eyebrow Spasticity Coarse facial features Mandibular prognathia Posteriorly rotated ears Constipation Absent speech Postaxial hand polydactyly Downturned corners of mouth Tapered finger Motor delay Long palpebral fissure Failure to thrive Shortening of all distal phalanges of the fingers Delayed ossification of carpal bones Profound global developmental delay Thickened helices Abnormally large globe Anteriorly placed anus Elevated alkaline phosphatase Broad nasal tip Tented upper lip vermilion Infantile muscular hypotonia Plagiocephaly Short toe Aganglionic megacolon Sparse scalp hair Small nail Omphalocele Polyhydramnios Premature birth Abnormality of the vasculature High-frequency hearing impairment Retinal coloboma Optic nerve coloboma Hydrocele testis Elevated serum creatinine Multiple renal cysts Soft skin Platybasia Prominent nasal bridge Severe vision loss Chorioretinal atrophy Visual field defect Nephritis Hyperextensible skin Pyelonephritis Lens luxation Abnormality of the genitourinary system Myopathy Full cheeks Leukemia Short neck Depressed nasal bridge Anemia Ptosis Deeply set eye Mild proteinuria Ureterovesical junction obstruction Recurrent pyelonephritis Macular hyperpigmentation Orbital cyst Morning glory anomaly Wide mouth Scleral staphyloma Chronic kidney disease Macular degeneration Bone marrow hypocellularity Corneal astigmatism Short palpebral fissure Visual impairment Optic nerve hypoplasia Strabismus Nystagmus Short stature Jejunal atresia Edema Hypoplastic iris stroma Short columella Retinal vascular tortuosity Sclerocornea Intestinal atresia Peters anomaly Sex reversal Cerebellar vermis hypoplasia Prominent nose Malabsorption Retinal detachment Astigmatism Nephrolithiasis Abnormality of the genital system Progressive visual loss Iris coloboma Gliosis Nephropathy Glaucoma Stage 5 chronic kidney disease Confusion Joint hyperflexibility Microcornea Joint laxity Proteinuria Reduced visual acuity Cafe-au-lait spot Hypoplasia of the radius Postaxial polydactyly Opacification of the corneal stroma Abnormality of the vertebral column Partial agenesis of the corpus callosum Atrioventricular canal defect Proximal placement of thumb Hand polydactyly Deep philtrum Arnold-Chiari malformation Short humerus Abnormal vertebral morphology Short thumb Severe muscular hypotonia Pulmonic stenosis Dolichocephaly Lissencephaly Abnormal heart morphology Transposition of the great arteries Absent radius Congenital muscular dystrophy Bronchogenic cyst Renal cyst Decreased testicular size Ectopia pupillae Hypospadias Isomerism Bilateral trilobed lungs Bilateral radial aplasia Enlarged kidney Persistent left superior vena cava Urethral atresia Pancreatic hypoplasia Heterotaxy Aqueductal stenosis Asplenia Double outlet right ventricle Abnormality of cardiovascular system morphology Choroid plexus carcinoma Absent thumb Type II lissencephaly Depressivity Occipital encephalocele Recurrent infections Headache Vomiting Retinal dysplasia Feeding difficulties Respiratory failure Hypoplastic sacrum Forearm undergrowth Abnormality of chromosome stability Rectovaginal fistula Depressed nasal tip Chromosome breakage Renal cortical cysts Pneumonia High forehead Choroid plexus papilloma Cortical dysplasia Papilloma Osteosarcoma Broad ribs Choanal stenosis Hypoplasia of the brainstem Papilledema Loss of consciousness Carcinoma Increased intracranial pressure Sleep apnea Hypertrichosis Macroglossia Delayed eruption of teeth Nausea Apnea Partial absence of the septum pellucidum



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