Microphthalmia, and Hydronephrosis

Diseases related with Microphthalmia and Hydronephrosis

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


Top matches:

High match MICROPHTHALMIA, ISOLATED 2; MCOP2


MICROPHTHALMIA, ISOLATED 2; MCOP2 Is also known as anophthalmia, clinical, isolated

Related symptoms:

  • Microphthalmia
  • Hydronephrosis
  • Tracheoesophageal fistula
  • Esophageal atresia


SOURCES: OMIM MENDELIAN

More info about MICROPHTHALMIA, ISOLATED 2; MCOP2

High match HOLOPROSENCEPHALY 3; HPE3


HOLOPROSENCEPHALY 3; HPE3 Is also known as hlp3

Related symptoms:

  • Microcephaly
  • Strabismus
  • Ptosis
  • Depressed nasal bridge
  • Malar flattening


SOURCES: OMIM MENDELIAN

More info about HOLOPROSENCEPHALY 3; HPE3

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

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Other less relevant matches:

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

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 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 MICRO SYNDROME


Micro syndrome is an autosomal recessive disorder caracterised by ocular and neurodevelopmental defects and by microgenitalia. It presents with severe intellectual disability, microcephaly, congenital cataract, microcornea, microphthalmia, agenesis/hypoplasia of the corpus callosum, and hypogenitalism.

MICRO SYNDROME Is also known as warbm|warburg micro syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about MICRO SYNDROME

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 MATTHEW-WOOD SYNDROME


Matthew-Wood syndrome is a rare clinical entity including as main characteristics anophthalmia or severe microphthalmia, and pulmonary hypoplasia or aplasia.

MATTHEW-WOOD SYNDROME Is also known as anophthalmia, clinical, with mild facial dysmorphism and variable malformations of the lung, heart, and diaphragm|syndromic microphthalmia type 9|mcops9|pulmonary agenesis, microphthalmia, and diaphragmatic defect|anophthalmia-pulmonary hypoplasia syndrom

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about MATTHEW-WOOD SYNDROME

High match WALKER-WARBURG SYNDROME


Walker-Warburg Syndrome (WWS) is a rare form of congenital muscular dystrophy associated with brain and eye abnormalities.

WALKER-WARBURG SYNDROME Is also known as hard syndrome|cerebroocular dysplasia-muscular dystrophy syndrome|hydrocephalus, agyria, and retinal dysplasia|walker-warburg syndrome or muscle-eye-brain disease, pomt1-related|wws|hydrocephalus-agyria-retinal dysplasia syndrome|cod-md syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about WALKER-WARBURG SYNDROME

Top 5 symptoms//phenotypes associated to Microphthalmia and Hydronephrosis

Symptoms // Phenotype % cases
Hydrocephalus Common - Between 50% and 80% cases
Cleft palate Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Intrauterine growth retardation Uncommon - Between 30% and 50% cases
Renal hypoplasia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Wide nasal bridge Microcornea Low-set ears Cataract Micrognathia Microcephaly Coloboma Glaucoma Generalized hypotonia Agenesis of corpus callosum Vesicoureteral reflux Renal dysplasia Hearing impairment Abnormality of the pinna Short stature Muscular hypotonia Hypoplasia of the corpus callosum Cryptorchidism Flexion contracture Abnormality of the kidney Intestinal malrotation Cerebellar vermis hypoplasia Seizures Optic nerve hypoplasia Pulmonary hypoplasia Renal malrotation Myopia Microtia Hypertelorism Global developmental delay Growth delay Ptosis

Rare Symptoms - Less than 30% cases


Heterotopia Abnormality of the genital system Encephalocele Retinal detachment Ventricular septal defect Brachycephaly Macrocephaly Horseshoe kidney Dandy-Walker malformation Protruding ear Cleft lip Intellectual disability, severe Abnormality of the genitourinary system Multicystic kidney dysplasia Intellectual disability, profound Severe hydrocephalus Anophthalmia Absent septum pellucidum Optic atrophy Anal atresia High palate Micropenis Bilateral cleft lip Abnormal facial shape Retinal coloboma Ureteropelvic junction obstruction Abnormal cortical gyration Renal insufficiency Oral cleft Visual impairment Accessory spleen Lissencephaly Cerebellar hypoplasia Polydactyly Deeply set eye Bilateral sensorineural hearing impairment Holoprosencephaly Bifid uvula Iris coloboma Atresia of the external auditory canal Preaxial polydactyly Hypoplasia of penis Astigmatism Peters anomaly Pachygyria Myopathy Bilateral renal hypoplasia Sensorineural hearing impairment Tracheoesophageal fistula Esophageal atresia Congenital cataract Depressed nasal bridge Polymicrogyria Strabismus Dilatation Enlarged cochlear aqueduct Respiratory failure Gustatory lacrimation Abnormal heart morphology Failure to thrive Preauricular skin tag Atrial fibrillation Inguinal hernia Respiratory insufficiency Flat face Oligohydramnios Hernia Microdontia Respiratory distress Renal agenesis Long face Atrial septal defect Severe short stature Patent ductus arteriosus Facial palsy Abnormality of cardiovascular system morphology Paralysis Abnormality of the renal collecting system Cholesteatoma Cupped ear Lacrimation abnormality External ear malformation Lacrimal duct stenosis Mixed hearing impairment Bilateral renal agenesis Abnormality of the middle ear ossicles Body odor Branchial cyst Premature graying of hair Arteria lusoria Branchial fistula Ectopic kidney Preauricular pit Epiphora Polycystic kidney dysplasia Dilatated internal auditory canal Cochlear malformation Hypoplasia of the cochlea Renal hypoplasia/aplasia Congenital hip dislocation Renal steatosis Narrow face Bilateral renal dysplasia Unilateral renal hypoplasia Euthyroid goiter Lacrimal duct aplasia Stenosis of the external auditory canal Abnormality of the cerebrum Abnormal lacrimal duct morphology Incomplete partition of the cochlea type II Overbite Annular pancreas Camptodactyly Abnormality of neuronal migration Abnormality of the optic nerve Retinal dysplasia Megalocornea Retinal atrophy Submucous cleft hard palate Occipital encephalocele Congenital glaucoma Hypoplasia of the brainstem Aqueductal stenosis Congenital muscular dystrophy Congenital contracture Severe muscular hypotonia Specific learning disability Retinal dystrophy Cleft upper lip Abnormality of the cerebral white matter Muscular dystrophy Buphthalmos Muscle fiber splitting Retinopathy Abnormality of the cerebellar vermis Thick cerebral cortex Aplasia/Hypoplasia involving the skeletal musculature Hypoplastic male external genitalia Chorioretinal dysplasia Abnormal lactate dehydrogenase activity Macrogyria Metatarsus valgus Abnormal levels of creatine kinase in blood Cerebellar dysplasia Hypoglycosylation of alpha-dystroglycan Meningoencephalocele Posterior fossa cyst Remnants of the hyaloid vascular system Excessive daytime sleepiness Agyria Cerebellar cyst Type II lissencephaly Corneal opacity Proptosis Blepharophimosis Truncus arteriosus Abnormality of the diaphragm Duodenal stenosis Diaphragmatic eventration Bilateral microphthalmos Bicornuate uterus Abnormality of the uterus Pulmonary artery atresia Hiatus hernia Overriding aorta Hypoplasia of the uterus Rocker bottom foot Abnormal lung morphology Coarctation of aorta Congenital diaphragmatic hernia Tetralogy of Fallot Pulmonic stenosis Pectus carinatum Retrognathia Single ventricle Posteriorly rotated ears Muscle weakness Elevated serum creatine phosphokinase Hyporeflexia Areflexia Blindness Ventriculomegaly Frontal bossing Skeletal muscle atrophy Agenesis of pulmonary vessels Pelvic kidney Abnormal spleen morphology Hypoplastic left atrium Hypoplastic spleen Aplasia/Hypoplasia of the pancreas Mild intrauterine growth retardation Right aortic arch with mirror image branching Bilateral lung agenesis Pulmonary artery hypoplasia Conductive hearing impairment Anteverted nares Dysphagia Visual field defect Multiple renal cysts Abnormality of the vasculature Soft skin Arnold-Chiari type I malformation Severe vision loss Chorioretinal atrophy Nephritis Hydrocele testis Hyperextensible skin Chronic kidney disease Macular degeneration Nephrolithiasis Progressive visual loss Gliosis Elevated serum creatinine Optic nerve coloboma Stage 5 chronic kidney disease Macular hyperpigmentation Leukemia Short neck Anemia Neoplasm Ureterovesical junction obstruction Recurrent pyelonephritis Orbital cyst High-frequency hearing impairment Morning glory anomaly Scleral staphyloma Optic nerve dysplasia Mild proteinuria Lens luxation Platybasia Pyelonephritis Nephropathy Confusion Cafe-au-lait spot Single median maxillary incisor Prominent nasal bridge Wide mouth Cognitive impairment Abdominal situs ambiguus Proboscis Cyclopia Abnormality of the nose Prominent nose Hypoplasia of the fovea Exotropia Hypotelorism Hypermetropia Midface retrusion Malar flattening Malabsorption Short palpebral fissure Joint hyperflexibility Corneal astigmatism Joint laxity Proteinuria Reduced visual acuity Edema Hypertension Nystagmus Jejunal atresia Short columella Hypoplastic iris stroma Retinal vascular tortuosity Intestinal atresia Sex reversal Ectopia pupillae Duodenal atresia Sclerocornea Full cheeks Bone marrow hypocellularity Frontoparietal polymicrogyria Low-set, posteriorly rotated ears Tetraplegia Abnormal cerebellum morphology Hirsutism Delayed puberty Short philtrum Joint stiffness Muscular hypotonia of the trunk Spastic tetraplegia Macrotia Narrow mouth Cerebral cortical atrophy Hypogonadism Short nose Kyphosis Decreased testicular size Postnatal microcephaly Peripheral neuropathy Cerebellar vermis atrophy Hypoplastic labia minora Clitoral hypoplasia Upper limb spasticity Abnormal localization of kidney Severe postnatal growth retardation Abnormality of visual evoked potentials Cortical dysplasia Abnormality of retinal pigmentation Decreased muscle mass Spastic diplegia Scrotal hypoplasia Aplasia/Hypoplasia of the corpus callosum Generalized hirsutism Low anterior hairline Cerebral visual impairment Cerebellar atrophy Spasticity Hypoplasia of the radius Hypospadias Preaxial hand polydactyly Omphalocele Postaxial hand polydactyly Premature birth Postaxial polydactyly Polyhydramnios Talipes equinovarus Abnormal lung lobation Hypoplastic sacrum Forearm undergrowth Abnormality of chromosome stability Rectovaginal fistula Depressed nasal tip Chromosome breakage Absent thumb Anencephaly Median cleft lip Scoliosis Laryngeal hypoplasia Proximal tibial hypoplasia Cleft in skull base Adrenal gland dysgenesis Agenesis of the diaphragm Bifid uterus Duplication of phalanx of hallux Arrhinencephaly Upper limb undergrowth Abnormal vagina morphology Bifid nose Complete atrioventricular canal defect Preaxial foot polydactyly Tracheal stenosis Bilateral cleft lip and palate Broad neck Abnormal aldolase level



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