Optic atrophy, and Renal dysplasia

Diseases related with Optic atrophy and Renal dysplasia

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


Top matches:

High match CORPUS CALLOSUM AGENESIS-ABNORMAL GENITALIA SYNDROME


Corpus callosum agenesis-abnormal genitalia syndrome is a rare, genetic developmental defect during embryogenesis syndrome characterized by agenesis of the corpus callosum, mild to severe neurological manifestations (intellectual disability, developmental delay, epilepsy, dystonia), and urogenital anomalies (hypospadias, cryptorchidism, renal dysplasia, ambiguous genitalia). Additionally, skeletal anomalies (limb contractures, scoliosis), dysmorphic facial features (prominent supraorbital ridges, synophris, large eyes) and optic atrophy have been observed.

CORPUS CALLOSUM AGENESIS-ABNORMAL GENITALIA SYNDROME Is also known as proud syndrome|microcephaly-corpus callosum agenesis-abnormal genitalia syndrome|acc with abnormal genitalia|acc-abnormal genitalia syndrome|proud-levine-carpenter syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about CORPUS CALLOSUM AGENESIS-ABNORMAL GENITALIA 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 ACROCEPHALOPOLYDACTYLOUS DYSPLASIA


Acrocephalopolydactylous dysplasia, or Elejalde syndrome, is a lethal multiple congenital disorder characterized by increased birth weight, globular body with thick skin, organomegaly, and fibrosis in multiple tissues (summary by Phadke et al., 2011).

ACROCEPHALOPOLYDACTYLOUS DYSPLASIA Is also known as elejalde syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Ataxia
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about ACROCEPHALOPOLYDACTYLOUS DYSPLASIA

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Other less relevant matches:

High match BALLER-GEROLD SYNDROME


Baller-Gerold syndrome is characterized by the association of coronal craniosynostosis with radial ray anomalies (oligodactyly, aplasia or hypoplasia of the thumb, aplasia or hypoplasia of the radius).

BALLER-GEROLD SYNDROME Is also known as craniosynostosis-radial aplasia syndrome|craniosynostosis with radial defects

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about BALLER-GEROLD SYNDROME

High match CHARGE SYNDROME


CHARGE syndrome is a multiple congenital anomaly syndrome characterized by the variable combination of multiple anomalies, mainly Coloboma; Choanal atresia/stenosis; Cranial nerve dysfunction; Characteristic ear anomalies (known as the major 4 C's).

CHARGE SYNDROME Is also known as charge association--coloboma, heart anomaly, choanal atresia, retardation, genital and ear anomalies|hhs|charge association|coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome|hall

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about CHARGE SYNDROME

Medium match HYPOPARATHYROIDISM-SENSORINEURAL DEAFNESS-RENAL DISEASE SYNDROME


Hypoparathyroidism-sensorineural deafness-renal disease syndrome is a rare, clinically heterogeneous genetic disorder characterized by the triad of hypoparathyroidism (H), sensorineural deafness (D) and renal disease (R).

HYPOPARATHYROIDISM-SENSORINEURAL DEAFNESS-RENAL DISEASE SYNDROME Is also known as barakat syndrome|hdrs|nephrosis, nerve deafness, and hypoparathyroidism|hdr syndrome|hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Growth delay
  • Nystagmus


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about HYPOPARATHYROIDISM-SENSORINEURAL DEAFNESS-RENAL DISEASE SYNDROME

Low match JOUBERT SYNDROME WITH JEUNE ASPHYXIATING THORACIC DYSTROPHY


Joubert syndrome with Jeune asphyxiating thoracic dystrophy (JATD) is an extremely rare genetic bone disorder characterized by the classic features of Joubert syndrome (i.e. malformation of the brainstem causing ataxia, hypotonia,cognitive impairment, and abnormal eyemovements), associated with the skeletal anomalies found in JATD including short-rib dysplasia and narrow thorax causing respiratory failure, short limbs, and metaphyseal changes.

JOUBERT SYNDROME WITH JEUNE ASPHYXIATING THORACIC DYSTROPHY Is also known as jbts with jatd|joubert syndrome with jatd

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hypertelorism
  • Failure to thrive


SOURCES: ORPHANET MENDELIAN

More info about JOUBERT SYNDROME WITH JEUNE ASPHYXIATING THORACIC DYSTROPHY

Low 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

Low 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

Low 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

Top 5 symptoms//phenotypes associated to Optic atrophy and Renal dysplasia

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Nystagmus Common - Between 50% and 80% cases
Hydrocephalus Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Hydronephrosis

Uncommon Symptoms - Between 30% and 50% cases


Hypertelorism Cleft palate Myopia Hearing impairment Growth delay Short stature Strabismus Cryptorchidism Vesicoureteral reflux Epicanthus Dandy-Walker malformation Microcephaly Low-set ears Scoliosis Intrauterine growth retardation Microphthalmia Cerebellar hypoplasia Anal atresia Generalized hypotonia Renal hypoplasia Agenesis of corpus callosum Ventriculomegaly Low-set, posteriorly rotated ears Muscular hypotonia Renal insufficiency Hemivertebrae Multicystic kidney dysplasia Frontal bossing Absent septum pellucidum Sensorineural hearing impairment Blindness Abnormality of cardiovascular system morphology Brachydactyly Abnormality of the kidney Coloboma Abnormal heart morphology Iris coloboma Micrognathia Occipital encephalocele Abnormality of the genital system Protruding ear Intellectual disability, severe Spasticity Hypospadias Lissencephaly

Rare Symptoms - Less than 30% cases


Feeding difficulties Aqueductal stenosis Depressed nasal bridge Decreased testicular size Proteinuria Retinal dysplasia Apnea Oxycephaly Ptosis Hypoplasia of the ulna Tracheoesophageal fistula Hypoplasia of the brainstem Anophthalmia Congenital muscular dystrophy Retinal coloboma Optic nerve hypoplasia Severe muscular hypotonia Heterotopia Optic nerve dysplasia Broad neck Rib fusion Plagiocephaly Abnormality of the pinna Postaxial polydactyly Polyhydramnios Respiratory failure Recurrent respiratory infections Short nose Edema Postaxial hand polydactyly Horseshoe kidney Type II lissencephaly Omphalocele Parathyroid hypoplasia Choanal stenosis Renal cortical cysts Hypocalcemia Abnormality of the cerebellar vermis Absent radius Failure to thrive Encephalocele Craniosynostosis Cerebellar vermis hypoplasia Chronic kidney disease Micropenis Cleft lip Abnormality of the urinary system Proptosis Glaucoma Short thumb Prominent forehead Motor delay Prominent nasal bridge Overfolded helix Narrow face Elevated serum creatine phosphokinase Narrow mouth Abnormal cardiac septum morphology Hypoplasia of the corpus callosum Gastroesophageal reflux Flexion contracture High palate Microtia Visual impairment Muscular dystrophy Polymicrogyria Muscle weakness Specific learning disability Bifid uvula Downslanted palpebral fissures Cataract Retinal detachment Retinal dystrophy Abnormality of the skeletal system Visual loss Abnormally large globe Cleft upper lip Facial asymmetry Ventricular septal defect Behavioral abnormality Conductive hearing impairment Abnormal soft palate morphology Hypoplasia of the cochlea Bifid femur Polycystic ovaries Hypoplasia of the semicircular canal Acidosis Parachute mitral valve Stroke Horizontal nystagmus Nephrocalcinosis Hand monodactyly Bilateral sensorineural hearing impairment Ectodermal dysplasia Hematuria Ischemic stroke Posterior choanal atresia Myalgia Hyperkinesis Diabetes mellitus Rod-cone dystrophy Cardiomyopathy Pain Holoprosencephaly Nephrotic syndrome Dimple chin Unilateral facial palsy Esophageal atresia Tics Facial paralysis Duodenal atresia Eyelid coloboma Abnormal cranial nerve morphology Abnormality of vision Hypoplasia of the zygomatic bone Reduced number of teeth Laryngomalacia Down-sloping shoulders Double outlet right ventricle External ear malformation Hand polydactyly Anosmia Anal stenosis Abnormality of immune system physiology Weak cry Chorioretinal coloboma Obsessive-compulsive behavior Cupped ear Broad palm Mixed hearing impairment Bifid scrotum Aplasia/Hypoplasia of the cerebellum Mask-like facies Vestibular dysfunction Hyposmia Psoriasiform dermatitis Aplasia/Hypoplasia of the thymus Narrow naris Abnormality of the inner ear Square face Torticollis Abnormal palmar dermatoglyphics Abnormality of bone mineral density Cranial nerve paralysis Abnormality of the adrenal glands Aortic arch aneurysm Bilateral choanal atresia Abnormality of the thymus Lop ear Abnormality of the cervical spine Arrhinencephaly Abnormality of tibia morphology External genital hypoplasia Cutaneous syndactyly Interrupted aortic arch Abnormality of female internal genitalia Microphallus Lacrimation abnormality Abnormal aortic valve morphology Peripheral pulmonary artery stenosis Gonadotropin deficiency Abnormality of the outer ear Anterior hypopituitarism Aplasia/Hypoplasia of the earlobes Labial hypoplasia Polycystic kidney dysplasia Molar tooth sign on MRI Unilateral renal agenesis Aganglionic megacolon Progressive visual loss Gliosis Nephropathy Stage 5 chronic kidney disease Confusion Joint hyperflexibility Joint laxity Reduced visual acuity Hypertension Hypoplasia of the bladder Abnormality of brain morphology Convex nasal ridge Macular degeneration Ichthyosis Hypotrichosis Alopecia Anencephaly Cortical dysplasia Opacification of the corneal stroma Renal cyst Cognitive impairment Aplasia/Hypoplasia involving bones of the thorax Abnormality of the 5th metacarpal Twelfth rib hypoplasia Nephrolithiasis Abnormality of the genitourinary system Rhizomelic leg shortening Ureteropelvic junction obstruction Recurrent pyelonephritis Macular hyperpigmentation Orbital cyst Morning glory anomaly Renal malrotation Scleral staphyloma Mild proteinuria Bilateral renal hypoplasia Lens luxation Platybasia Pyelonephritis High-frequency hearing impairment Hyperextensible skin Optic nerve coloboma Hydrocele testis Elevated serum creatinine Multiple renal cysts Abnormality of the vasculature Soft skin Arnold-Chiari type I malformation Severe vision loss Chorioretinal atrophy Visual field defect Nephritis Early ossification of capital femoral epiphyses Open operculum Progressive sensorineural hearing impairment Pseudopapilledema Short ribs Wide intermamillary distance Abnormal cerebellum morphology Elevated hepatic transaminase Absent speech Unilateral renal dysplasia Abnormality of T cell physiology Unilateral deafness Bilateral renal dysplasia Thickening of the glomerular basement membrane Septate vagina Proximal renal tubular acidosis Tachypnea Distal renal tubular acidosis Uterus didelphys Hypocalcemic seizures Aplasia of the uterus Ovarian cyst Vaginal atresia Tetany Severe postnatal growth retardation Hypoparathyroidism Renal tubular acidosis Basal ganglia calcification Oculomotor apraxia Increased intracranial pressure Subretinal deposits Recurrent aspiration pneumonia Small cervical vertebral bodies Rhizomelic arm shortening Dilated third ventricle Cervical spinal canal stenosis Dysgenesis of the cerebellar vermis Abnormality of the acetabulum Proximal femoral metaphyseal irregularity Elongated superior cerebellar peduncle Short digit Duane anomaly Abnormality of the optic disc Long clavicles Cone-shaped epiphysis Hyperechogenic kidneys Abnormal corpus callosum morphology Abnormality of the basal ganglia Colpocephaly Redundant neck skin Dilation of lateral ventricles Chronic lung disease Enlarged cisterna magna Meningocele Bell-shaped thorax Thoracic hypoplasia Supernumerary nipple Short chin Perineal fistula Hypogonadotrophic hypogonadism Abnormal lactate dehydrogenase activity Upslanted palpebral fissure Short neck Tremor Hepatomegaly Ataxia Abnormal aldolase level Thick cerebral cortex Aplasia/Hypoplasia involving the skeletal musculature Hypoplastic male external genitalia Chorioretinal dysplasia Macrogyria Rigidity Severe hydrocephalus Metatarsus valgus Abnormal levels of creatine kinase in blood Hypoglycosylation of alpha-dystroglycan Meningoencephalocele Posterior fossa cyst Remnants of the hyaloid vascular system Excessive daytime sleepiness Agyria Cerebellar cyst Polydactyly Micromelia Muscle fiber splitting Macular dystrophy Cerebral cortical hemiatrophy Pancreatic fibrosis Lymphangioma Subcortical cerebral atrophy Cystic renal dysplasia Polysplenia Enlarged kidney Protuberant abdomen Generalized hyperpigmentation Cystic hygroma Premature graying of hair Pulmonary hypoplasia Redundant skin Muscle stiffness Hydrops fetalis Hepatic fibrosis Thickened skin Abnormality of the face Depressed nasal ridge Limb undergrowth Ascites Hypopigmentation of the skin Cerebellar dysplasia Peters anomaly Hypoplasia of the small intestine Low anterior hairline Broad alveolar ridges Limb joint contracture Abnormal hair pattern Infantile spasms Abnormality of the hip bone Overlapping toe Prominent supraorbital ridges Renal hypoplasia/aplasia Intellectual disability, progressive Generalized hirsutism Spastic tetraplegia Skeletal muscle atrophy Tetraplegia Tapered finger Hirsutism Synophrys Severe global developmental delay Neonatal hypotonia Coarse facial features Cerebral cortical atrophy Hyperactivity Inguinal hernia Hyperconvex nail Macrocephaly Buphthalmos Pachygyria Abnormality of the optic nerve Abnormal cortical gyration Bilateral cleft lip Megalocornea Retinal atrophy Submucous cleft hard palate Congenital glaucoma Abnormality of neuronal migration Congenital contracture Atresia of the external auditory canal Intellectual disability, profound Myopathy Hypoplasia of penis Microcornea Oral cleft Congenital cataract Abnormality of the cerebral white matter Corneal opacity Retinopathy Posteriorly rotated ears Hyporeflexia Areflexia Dilatation Aplasia/Hypoplasia of the macula Hypoplastic colon Aspiration Respiratory insufficiency Pneumonia Clinodactyly of the 5th finger Patent ductus arteriosus Hernia Midface retrusion Immunodeficiency Syndactyly Malar flattening Long philtrum Atrial septal defect Anteverted nares Autism Talipes equinovarus Dysphagia Unilateral radial aplasia Aphalangy of the hands Anomalous splenoportal venous system Midface capillary hemangioma Carpal bone aplasia Persistent cloaca Limited shoulder movement Bicoronal synostosis Hypogonadism Hypothyroidism Bilateral radial aplasia Highly arched eyebrow Lymphopenia Preauricular skin tag Choanal atresia Small nail Abnormality of the ribs Tetralogy of Fallot Renal agenesis Webbed neck Growth hormone deficiency Delayed eruption of teeth Talipes Retrognathia Delayed puberty Pulmonic stenosis Pectus carinatum Attention deficit hyperactivity disorder Paralysis Postnatal growth retardation Feeding difficulties in infancy Abnormality of the eye Facial palsy Photophobia Umbilical hernia Aplasia of metacarpal bones Flat forehead Extrapulmonary sequestrum Bowing of the long bones Narrow nasal bridge Absent thumb Hallux valgus Trigonocephaly Failure to thrive in infancy Hypoplasia of the radius Abnormality of the metacarpal bones Spina bifida occulta Abnormal vertebral morphology Large fontanelles Pancytopenia Aplasia/Hypoplasia of the thumb Hypotelorism Underdeveloped nasal alae Prominent nose Lymphoma Malabsorption Broad forehead Skin rash Brachycephaly Thrombocytopenia Anemia Anteriorly placed anus Short humerus Urogenital fistula Abnormal localization of kidney Abnormality of the carpal bones Metopic synostosis Brachyturricephaly Ulnar bowing Aplasia/Hypoplasia of the patella Lambdoidal craniosynostosis Limited elbow movement Hand oligodactyly Patellar hypoplasia Anterior plagiocephaly Sagittal craniosynostosis Oligodactyly Bilateral conductive hearing impairment Poikiloderma Rectovaginal fistula Osteosarcoma Chromosome breakage Coronal craniosynostosis Shallow orbits Carpal synostosis Abnormality of the ureter Aplasia/Hypoplasia of the radius Fibular hypoplasia Ureterovesical junction obstruction



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