Hydrocephalus, and Retinal detachment

Diseases related with Hydrocephalus and Retinal detachment

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

Top matches:

Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A) is an autosomal recessive disorder with congenital muscular dystrophy resulting in muscle weakness early in life and brain and eye anomalies. It is usually associated with delayed psychomotor development and shortened life expectancy. 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 Stevens 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, 11; MDDGA11 Is also known as walker-warburg syndrome or muscle-eye-brain disease, b3galnt2-related

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Muscle weakness
  • Cataract
  • Spasticity


SOURCES: OMIM MENDELIAN

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 11; MDDGA11

Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A), which includes both the more severe Walker-Warburg syndrome (WWS) and the slightly less severe muscle-eye-brain disease (MEB), is an autosomal recessive disorder with characteristic brain and eye malformations, profound mental retardation, congenital muscular dystrophy, and death usually in the first years of life. It represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of DAG1 (OMIM ), collectively known as 'dystroglycanopathies' (Beltran-Valero de Bernabe et al., 2004).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, 5; MDDGA5 Is also known as walker-warburg syndrome or muscle-eye-brain disease, fkrp-related

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Cataract
  • Feeding difficulties


SOURCES: OMIM MENDELIAN

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5; MDDGA5

Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A), which includes both the more severe Walker-Warburg syndrome (WWS) and the slightly less severe muscle-eye-brain disease (MEB), is an autosomal recessive disorder with characteristic brain and eye malformations, profound mental retardation, congenital muscular dystrophy, and death usually in the first years of life. It 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 Roscioli et al., 2012).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, 7; MDDGA7 Is also known as walker-warburg syndrome or muscle-eye-brain disease, ispd-related

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Cataract
  • Low-set ears
  • Macrocephaly


SOURCES: OMIM MENDELIAN

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7; MDDGA7

Other less relevant matches:

Sturge-Weber syndrome (SWS) is a rare congenital neurocutaneous disorder characterized by facial capillary malformations and/or cerebral and ocular ipsilateral vascular malformations that result in variable degrees of ocular and neurological anomalies.

STURGE-WEBER SYNDROME Is also known as sws|sturge-weber-dimitri syndrome|sturge-weber-krabbe angiomatosis|encephalofacial angiomatosis|sturge-weber-krabbe syndrome|encephalotrigeminal angiomatosis

Related symptoms:

  • Intellectual disability
  • Seizures
  • Strabismus
  • Hyperreflexia
  • Macrocephaly


SOURCES: ORPHANET MENDELIAN

More info about STURGE-WEBER SYNDROME

Proteus-like syndrome describes patients who do not meet the diagnostic criteria for Proteus syndrome (see this term) but who share a multitude of characteristic clinical features of the disease.

PROTEUS-LIKE SYNDROME Is also known as cohen-hayden syndrome

Related symptoms:

  • Intellectual disability
  • Cataract
  • Myopia
  • Macrocephaly
  • Downslanted palpebral fissures


SOURCES: ORPHANET MENDELIAN

More info about PROTEUS-LIKE 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

Von Hippel-Lindau disease (VHL) is a familial cancer predisposition syndrome associated with a variety of malignant and benign neoplasms, most frequently retinal, cerebellar, and spinal hemangioblastoma, renal cell carcinoma (RCC), and pheochromocytoma.

VON HIPPEL-LINDAU DISEASE Is also known as familial cerebelloretinal angiomatosis|von hippel-lindau syndrome|lindau disease|vhl

Related symptoms:

  • Hearing impairment
  • Ataxia
  • Nystagmus
  • Neoplasm
  • Sensorineural hearing impairment


SOURCES: ORPHANET MENDELIAN

More info about VON HIPPEL-LINDAU DISEASE

Von Hippel-Lindau syndrome (VHL) is a dominantly inherited familial cancer syndrome predisposing to a variety of malignant and benign neoplasms, most frequently retinal, cerebellar, and spinal hemangioblastoma, renal cell carcinoma (RCC), pheochromocytoma, and pancreatic tumors.Neumann and Wiestler (1991) classified VHL as type 1 (without pheochromocytoma) and type 2 (with pheochromocytoma). Brauch et al. (1995) further subdivided VHL type 2 into type 2A (with pheochromocytoma) and type 2B (with pheochromocytoma and renal cell carcinoma). Hoffman et al. (2001) noted that VHL type 2C refers to patients with isolated pheochromocytoma without hemangioblastoma or renal cell carcinoma. McNeill et al. (2009) proposed that patients with VHL syndrome caused by large VHL deletions that include the HSPC300 gene (C3ORF10 ) have a specific subtype of VHL syndrome characterized by protection from renal cell carcinoma, which the authors proposed be named VHL type 1B.Nordstrom-O'Brien et al. (2010) provided a review of the genetics of von Hippel-Lindau disease.

Related symptoms:

  • Hearing impairment
  • Neoplasm
  • Sensorineural hearing impairment
  • Pain
  • Hypertension


SOURCES: OMIM MENDELIAN

More info about VON HIPPEL-LINDAU SYNDROME; VHL

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

Medium 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

Top 5 symptoms//phenotypes associated to Hydrocephalus and Retinal detachment

Symptoms // Phenotype % cases
Cataract Common - Between 50% and 80% cases
Myopia Common - Between 50% and 80% cases
Glaucoma Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Blindness Microphthalmia Global developmental delay Pachygyria Macrocephaly Ventriculomegaly Seizures Type II lissencephaly Congenital muscular dystrophy Lissencephaly Cerebellar hypoplasia Elevated serum creatine phosphokinase Polymicrogyria Muscular dystrophy Hypertension Hypoplasia of the brainstem Agyria Visual impairment Sensorineural hearing impairment Dandy-Walker malformation Encephalocele Multiple renal cysts Nystagmus Visual loss Capillary hemangioma Hearing impairment Intellectual disability, profound Strabismus Progressive visual loss Coloboma Cerebellar cyst Severe muscular hypotonia Dilatation Cerebellar dysplasia Optic nerve hypoplasia

Rare Symptoms - Less than 30% cases

Neurological speech impairment Neoplasm Iris coloboma Ataxia Abnormality of the retinal vasculature Corneal dystrophy Abnormality of the cerebral white matter Hyperostosis Hypoplasia of the pons Heterochromia iridis Abnormality of the cerebral vasculature Optic atrophy Hemangioma Visceral angiomatosis Lens luxation Congenital cataract Chorioretinal atrophy Macular degeneration Multicystic kidney dysplasia Muscle weakness Edema Occipital encephalocele Hydronephrosis Absent septum pellucidum Abnormality of the kidney Joint hyperflexibility Renal dysplasia Vesicoureteral reflux Retinal capillary hemangioma Remnants of the hyaloid vascular system Pancreatic cysts Pheochromocytoma Microtia Respiratory insufficiency Low-set ears Severe hydrocephalus Heterotopia Retrognathia Renal cell carcinoma Aqueductal stenosis Motor delay Frontal bossing Hyporeflexia Retinal dysplasia Hypoplasia of the corpus callosum Areflexia High myopia Corneal opacity Papillary cystadenoma of the epididymis Peters anomaly Anal atresia Cleft upper lip Oral cleft Retinopathy Protruding ear Retinal dystrophy Polycythemia Microcornea Exocrine pancreatic insufficiency Hamartoma Neurofibromas Papilledema Bifid uvula Hyperaldosteronism Neoplasm of the pancreas Specific learning disability Hypoplasia of penis Cerebellar vermis hypoplasia Cleft lip Intellectual disability, severe Proptosis Facial paralysis Adrenal pheochromocytoma Retinal neovascularization Epididymal cyst Cerebellar hemangioblastoma Pulmonary capillary hemangiomatosis Choroidal neovascularization Hemangioblastoma Carcinoid tumor Paraganglioma Neoplasm of the endocrine system Spinal hemangioblastoma Secondary hyperaldosteronism Microcephaly Posteriorly rotated ears Growth delay Hypertelorism Subarachnoid hemorrhage Renal neoplasm Muscular hypotonia Cleft palate Cryptorchidism Flexion contracture Intrauterine growth retardation Skeletal muscle atrophy Posterior uveitis Myopathy Agenesis of corpus callosum Neoplasm of the ear Aplasia/Hypoplasia involving the skeletal musculature Atresia of the external auditory canal Vitreoretinopathy Leukemia Retinal degeneration Bulbous nose Thin skin Abnormality of the hair Narrow face Horizontal nystagmus Pyloric stenosis Ectopia lentis Dextrocardia Cortical dysplasia Aplasia cutis congenita Acute lymphoblastic leukemia Meningocele Calvarial skull defect Mental deterioration Large forehead Anomalous pulmonary venous return Aplasia cutis congenita of scalp Total anomalous pulmonary venous return Macular hypoplasia Band keratopathy Lymphangioma Phthisis bulbi Abnormal vitreous humor morphology Cerebellar malformation Exudative retinal detachment Peripapillary atrophy Occipital meningocele Bifid ureter Nyctalopia Alopecia Congenital contracture Hypoglycosylation of alpha-dystroglycan Anophthalmia Abnormality of neuronal migration Congenital glaucoma Submucous cleft hard palate Retinal atrophy Megalocornea Bilateral cleft lip Abnormal cortical gyration Abnormality of the optic nerve Buphthalmos Muscle fiber splitting Excessive daytime sleepiness Posterior fossa cyst Meningoencephalocele Abnormal levels of creatine kinase in blood Patent ductus arteriosus Abnormal aldolase level Midface retrusion Cerebral atrophy Cerebellar atrophy Epicanthus Depressed nasal bridge Abnormal facial shape Thick cerebral cortex Abnormality of the cerebellar vermis Hypokalemia Hypoplastic male external genitalia Chorioretinal dysplasia Abnormal lactate dehydrogenase activity Macrogyria Metatarsus valgus Hypercalcemia Pyelonephritis Tinnitus Dolichocephaly Arnold-Chiari malformation Abnormality of vision Pulmonary embolism Hearing abnormality Hemianopia Conjunctival telangiectasia Abnormal choroid morphology Downslanted palpebral fissures Anteverted nares Splenomegaly Mandibular prognathia Skeletal dysplasia Polycystic ovaries Gingival overgrowth Open bite Irregular hyperpigmentation Exostoses Genu recurvatum Communicating hydrocephalus Lower limb asymmetry Abnormal pupil morphology Venous insufficiency Epibulbar dermoid Subcutaneous lipoma Epidermal nevus Shagreen patch Abnormality of the parathyroid gland Venous thrombosis Cerebral calcification Bronchogenic cyst Decreased fetal movement Spasticity Cognitive impairment Muscular hypotonia of the trunk Leukoencephalopathy Feeding difficulties Respiratory distress Severe global developmental delay Abnormality of skin pigmentation Ventricular hypertrophy Left ventricular hypertrophy Deeply set eye Facial palsy Large fontanelles Abnormality of eye movement Adducted thumb Partial agenesis of the corpus callosum Weak cry Gonadal dysgenesis Corpus callosum atrophy Hyperreflexia Dysphagia Behavioral abnormality Cerebral cortical atrophy Abnormality of the eye Autistic behavior Attention deficit hyperactivity disorder Stroke Thymus hyperplasia Short stature Nevus Polycystic kidney dysplasia Morning glory anomaly Orbital cyst Macular hyperpigmentation Recurrent pyelonephritis Ureterovesical junction obstruction Gait disturbance Arrhythmia Hyperhidrosis Nausea and vomiting Sensory neuropathy Migraine Increased intracranial pressure Aplasia/Hypoplasia of the cerebellum Scleral staphyloma Hemiplegia/hemiparesis Telangiectasia of the skin Arteriovenous malformation Abnormality of the pancreas Abnormality of the lymphatic system Neuroendocrine neoplasm Vascular neoplasm Neoplasm of the middle ear Pain Carcinoma Abnormality of the liver Vertigo Renal cyst Renal malrotation Optic nerve dysplasia Renal insufficiency Hyperextensible skin Reduced visual acuity Proteinuria Joint laxity Confusion Stage 5 chronic kidney disease Nephropathy Gliosis Renal hypoplasia Abnormality of the genital system Nephrolithiasis Horseshoe kidney Abnormality of the genitourinary system Chronic kidney disease Nephritis Mild proteinuria Visual field defect Severe vision loss Arnold-Chiari type I malformation Soft skin Abnormality of the vasculature Elevated serum creatinine Hydrocele testis Optic nerve coloboma Retinal coloboma High-frequency hearing impairment Ureteropelvic junction obstruction Platybasia Bilateral renal hypoplasia Cephalocele


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