Microphthalmia, and Renal dysplasia

Diseases related with Microphthalmia and Renal dysplasia

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


Top matches:

High match MECKEL SYNDROME, TYPE 4; MKS4


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

High match MECKEL SYNDROME, TYPE 8; MKS8


Meckel-Gruber syndrome is a severe autosomal recessive ciliopathy classically defined by the triad of encephalocele, polydactyly, and renal and biliary ductal dysplasia. Clinical heterogeneity exists even within families (summary by Shaheen et al., 2011).For a general phenotypic description and a discussion of genetic heterogeneity of Meckel syndrome, see MKS1 (OMIM ).

Related symptoms:

  • Microcephaly
  • Cleft palate
  • Low-set ears
  • Talipes equinovarus
  • Short neck


SOURCES: OMIM MENDELIAN

More info about MECKEL SYNDROME, TYPE 8; MKS8

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

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Other less relevant matches:

High match TETRA-AMELIA


Tetraamelia syndrome-1 is characterized by complete limb agenesis without defects of scapulae or clavicles. Other features include bilateral cleft lip/palate, diaphragmatic defect with bilobar right lung, renal and adrenal agenesis, pelvic hypoplasia, and urogenital defects (Niemann et al., 2004). Genetic Heterogeneity of tetraamelia syndromeTetraamelia syndrome-2 (TETAMS2 ) is caused by mutation in the RSPO2 gene (OMIM ) on chromosome 8q23.

TETRA-AMELIA Is also known as total amelia|tetraamelia syndrome, autosomal recessive

Related symptoms:

  • Micrognathia
  • Cleft palate
  • Cataract
  • Low-set ears
  • Hydrocephalus


SOURCES: OMIM ORPHANET MENDELIAN

More info about TETRA-AMELIA

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 SHORT-RIB THORACIC DYSPLASIA 13 WITH OR WITHOUT POLYDACTYLY; SRTD13


Related symptoms:

  • Hypertelorism
  • Cleft palate
  • Cryptorchidism
  • Respiratory insufficiency
  • Microphthalmia


SOURCES: OMIM MENDELIAN

More info about SHORT-RIB THORACIC DYSPLASIA 13 WITH OR WITHOUT POLYDACTYLY; SRTD13

High match JOUBERT SYNDROME 2; JBTS2


Joubert syndrome is a genetically heterogeneous autosomal recessive disorder characterized by a specific hindbrain malformation, which is referred to as the 'molar tooth sign' (MTS) on brain MRI, hypotonia, developmental delay, oculomotor apraxia, and breathing abnormalities. The complex brainstem malformation consists of cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (Maria et al., 1997). Additional features sometimes associated with Joubert syndrome include retinal anomalies, polydactyly, hepatic fibrosis, and renal disease. These related disorders are often referred to as 'cerebellooculorenal syndromes' (CORSs) (Chance et al., 1999; Satran et al., 1999).

JOUBERT SYNDROME 2; JBTS2 Is also known as cors2|cerebellooculorenal syndrome 2

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Hypertelorism


SOURCES: MESH OMIM MENDELIAN

More info about JOUBERT SYNDROME 2; JBTS2

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 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

High match MECKEL SYNDROME, TYPE 1; MKS1


Meckel syndrome, also known as Meckel-Gruber syndrome, is a severe pleiotropic autosomal recessive developmental disorder caused by dysfunction of primary cilia during early embryogenesis. There is extensive clinical variability and controversy as to the minimum diagnostic criteria. Early reports, including that of Opitz and Howe (1969) and Wright et al. (1994), stated that the classic triad of Meckel syndrome comprises (1) cystic renal disease; (2) a central nervous system malformation, most commonly occipital encephalocele; and (3) polydactyly, most often postaxial. However, based on a study of 67 patients, Salonen (1984) concluded that the minimum diagnostic criteria are (1) cystic renal disease; (2) CNS malformation, and (3) hepatic abnormalities, including portal fibrosis or ductal proliferation. In a review of Meckel syndrome, Logan et al. (2011) stated that the classic triad first described by Meckel (1822) included occipital encephalocele, cystic kidneys, and fibrotic changes to the liver. Genetic Heterogeneity of Meckel SyndromeSee also MKS2 (OMIM ), caused by mutation in the TMEM216 gene (OMIM ) on chromosome 11q12; MKS3 (OMIM ), caused by mutation in the TMEM67 gene (OMIM ) on chromosome 8q; MKS4 (OMIM ), caused by mutation in the CEP290 gene (OMIM ) on chromosome 12q; MKS5 (OMIM ), caused by mutation in the RPGRIP1L gene (OMIM ) on chromosome 16q12; MKS6 (OMIM ), caused by mutation in the CC2D2A gene (OMIM ) on chromosome 4p15; MKS7 (OMIM ), caused by mutation in the NPHP3 (OMIM ) gene on chromosome 3q22; MKS8 (OMIM ), caused by mutation in the TCTN2 gene (OMIM ) on chromosome 12q24; MKS9 (OMIM ), caused by mutation in the B9D1 gene (OMIM ) on chromosome 17p11; MKS10 (OMIM ), caused by mutation in the B9D2 gene (OMIM ) on chromosome 19q13; MKS11 (OMIM ), caused by mutation in the TMEM231 gene (OMIM ) on chromosome 16q23; MKS12 (OMIM ), caused by mutation in the KIF14 gene (OMIM ) on chromosome 1q32; and MKS13 (OMIM ), caused by mutation in the TMEM107 gene (OMIM ) on chromosome 17p13.

MECKEL SYNDROME, TYPE 1; MKS1 Is also known as mks|meckel-gruber syndrome, type 1|meckel syndrome|gruber syndrome|dysencephalia splanchnocystica|mes|meckel-gruber syndrome

Related symptoms:

  • Microcephaly
  • Hypertelorism
  • Micrognathia
  • Cleft palate
  • Cryptorchidism


SOURCES: OMIM MENDELIAN

More info about MECKEL SYNDROME, TYPE 1; MKS1

Top 5 symptoms//phenotypes associated to Microphthalmia and Renal dysplasia

Symptoms // Phenotype % cases
Cleft palate Common - Between 50% and 80% cases
Hydrocephalus Common - Between 50% and 80% cases
Low-set ears Common - Between 50% and 80% cases
Encephalocele Common - Between 50% and 80% cases
Microcephaly Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Dandy-Walker malformation Cleft lip Postaxial hand polydactyly Occipital encephalocele Polydactyly Renal cyst Cryptorchidism Cleft upper lip Anal atresia Intrauterine growth retardation Hypertelorism Renal hypoplasia Hydronephrosis Postaxial polydactyly Pulmonary hypoplasia Global developmental delay Hearing impairment Renal agenesis Iris coloboma Renal insufficiency Myopia Vesicoureteral reflux Intellectual disability Cataract Patent ductus arteriosus Agenesis of corpus callosum Coloboma Abnormality of the genital system Polycystic kidney dysplasia Abnormality of the kidney Meningoencephalocele Anencephaly Molar tooth sign on MRI Bowing of the long bones Multicystic kidney dysplasia Cerebellar hypoplasia

Rare Symptoms - Less than 30% cases


Hypoplasia of the brainstem Dilatation Nystagmus Renal malrotation Hepatic fibrosis Urethral atresia Retinal dystrophy Retinopathy Hypoplastic pelvis Cerebellar vermis hypoplasia Seizures Visual impairment Omphalocele Preaxial polydactyly Muscular hypotonia High palate Cerebellar dysplasia Lobulated tongue Natal tooth Macrocephaly Glaucoma Sensorineural hearing impairment Spontaneous abortion Frontal bossing Optic nerve coloboma Blindness Ureteropelvic junction obstruction Generalized hypotonia Retinal detachment Asplenia Single umbilical artery Meningocele Oligohydramnios Anophthalmia Bilateral cleft lip Hypoplastic male external genitalia Abnormality of the pinna Growth delay Intellectual disability, severe Bifid uvula Protruding ear Atresia of the external auditory canal Short neck Narrow chest Bile duct proliferation Agenesis of cerebellar vermis Intestinal malrotation Optic nerve hypoplasia External genital hypoplasia Oral cleft Microtia Hypoplasia of the corpus callosum Hypoplasia of the bladder Micrognathia Cholesteatoma Abnormality of the renal collecting system Abnormality of the cerebrum Posteriorly rotated ears Abnormal lacrimal duct morphology Incomplete partition of the cochlea type II Dilatated internal auditory canal Hyporeflexia Elevated serum creatine phosphokinase Enlarged cochlear aqueduct Optic atrophy Gustatory lacrimation Areflexia Muscle weakness Long face Myopathy Flexion contracture Skeletal muscle atrophy Ventriculomegaly Flat face Bilateral renal dysplasia Lacrimal duct aplasia Branchial fistula External ear malformation Stenosis of the external auditory canal Lacrimation abnormality Lacrimal duct stenosis Overbite Bilateral renal agenesis Abnormality of the middle ear ossicles Mixed hearing impairment Body odor Branchial cyst Arteria lusoria Premature graying of hair Ectopic kidney Preauricular pit Microdontia Cochlear malformation Epiphora Cupped ear Renal hypoplasia/aplasia Congenital hip dislocation Narrow face Hypoplasia of the cochlea Preauricular skin tag Atrial fibrillation Bilateral sensorineural hearing impairment Renal steatosis Unilateral renal hypoplasia Euthyroid goiter Proptosis Cerebellar cyst Corneal opacity Talipes Radial deviation of finger Arnold-Chiari malformation Spina bifida Coarctation of aorta Hypotelorism Sloping forehead Webbed neck Abnormal cardiac septum morphology Abnormality of the ureter Wide mouth Clinodactyly Syndactyly Splenomegaly Abnormal aldolase level Thick cerebral cortex Aplasia/Hypoplasia involving the skeletal musculature Hydroureter Foot polydactyly Abnormal lactate dehydrogenase activity Elevated alpha-fetoprotein Occipital meningocele Large placenta Olfactory lobe agenesis Elevated amniotic fluid alpha-fetoprotein Urethral obstruction Cerebral hypoplasia Neural tube defect Ambiguous genitalia, female Adrenal hypoplasia Accessory spleen Portal fibrosis Ambiguous genitalia, male Cystic renal dysplasia Abnormality of the larynx Abnormality of the uterus Breech presentation Chorioretinal dysplasia Macrogyria Muscular dystrophy Heterotopia Absent septum pellucidum Congenital glaucoma Abnormality of neuronal migration Congenital muscular dystrophy Congenital contracture Lissencephaly Severe muscular hypotonia Pachygyria Retinal atrophy Intellectual disability, profound Hypoplasia of penis Specific learning disability Microcornea Polymicrogyria Congenital cataract Abnormality of the cerebral white matter Submucous cleft hard palate Megalocornea Severe hydrocephalus Agyria Metatarsus valgus Abnormality of the cerebellar vermis Abnormal levels of creatine kinase in blood Hypoglycosylation of alpha-dystroglycan Posterior fossa cyst Remnants of the hyaloid vascular system Excessive daytime sleepiness Facial palsy Retinal dysplasia Type II lissencephaly Muscle fiber splitting Peters anomaly Aqueductal stenosis Buphthalmos Abnormality of the optic nerve Abnormal cortical gyration Paralysis Feeding difficulties Conductive hearing impairment Horseshoe kidney Short stature Strabismus Hypertension Edema Reduced visual acuity Proteinuria Joint laxity Joint hyperflexibility Confusion Stage 5 chronic kidney disease Nephropathy Gliosis Progressive visual loss Nephrolithiasis Macular degeneration Adrenal gland agenesis Soft skin High-frequency hearing impairment Retinal coloboma Hydrocele testis Elevated serum creatinine Multiple renal cysts Abnormality of the vasculature Arnold-Chiari type I malformation Abnormality of the genitourinary system Severe vision loss Chorioretinal atrophy Visual field defect Nephritis Hyperextensible skin Chronic kidney disease Peripheral pulmonary vessel aplasia Hypoplasia of the fallopian tube Platybasia Pericardial effusion Hypotrichosis Alopecia Scoliosis Equinovarus deformity Hyperechogenic kidneys Enlarged kidney Depressed nasal ridge Convex nasal ridge Abdominal distention Broad forehead Short nose Talipes equinovarus Atrial septal defect Ventricular septal defect Ichthyosis Decreased testicular size Tetraphocomelia Phocomelia Single naris Tetraamelia Absent external genitalia Amelia Abnormality of the diaphragm Gastroschisis Long penis Aganglionic megacolon Vaginal atresia Amniotic constriction ring Choanal atresia Abnormality of brain morphology Plagiocephaly Hemivertebrae Pyelonephritis Lens luxation Retrognathia Central apnea Craniosynostosis Dolichocephaly Abnormality of the foot Abnormal cerebellum morphology Esotropia Apraxia Oculomotor apraxia Abnormal electroretinogram Patent foramen ovale Chorioretinal coloboma Nephronophthisis Acute kidney injury Congenital blindness Impaired smooth pursuit Abnormal renal physiology Neonatal hypotonia Dysgenesis of the cerebellar vermis Dysphagia Noncommunicating hydrocephalus Enlarged fossa interpeduncularis Thickened superior cerebellar peduncle Neonatal breathing dysregulation Brainstem dysplasia Episodic tachypnea Abnormal corpus callosum morphology Elongated superior cerebellar peduncle Abnormality of ocular smooth pursuit Metopic synostosis Abnormal saccadic eye movements Accessory oral frenulum Rotary nystagmus Camptodactyly Depressed nasal bridge Bilateral renal hypoplasia Ureterovesical junction obstruction Coarse facial features Skeletal dysplasia Macrotia Respiratory failure Midface retrusion Respiratory insufficiency Recurrent pyelonephritis Limb undergrowth Macular hyperpigmentation Orbital cyst Morning glory anomaly Scleral staphyloma Optic nerve dysplasia Mild proteinuria Prominent nose Ambiguous genitalia Failure to thrive Bifid tongue Ataxia Unicoronal synostosis Hypoplastic facial bones Squared iliac bones Horizontal ribs Cleft soft palate Thoracic dysplasia Rhizomelia Flat acetabular roof Bell-shaped thorax Thoracic hypoplasia Relative macrocephaly Microretrognathia Short ribs Craniorachischisis



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