Hydrocephalus, and Glaucoma

Diseases related with Hydrocephalus and Glaucoma

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

Top matches:

Sturge-Weber syndrome is characterized by an intracranial vascular anomaly, leptomeningeal angiomatosis, most often involving the occipital and posterior parietal lobes. The most common symptoms and signs are facial cutaneous vascular malformations (port-wine stains), seizures, and glaucoma. Stasis results in ischemia underlying the leptomeningeal angiomatosis, leading to calcification and laminar cortical necrosis. The clinical course is highly variable and some children experience intractable seizures, mental retardation, and recurrent stroke-like episodes (review by Thomas-Sohl et al., 2004).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Cognitive impairment


SOURCES: OMIM MENDELIAN

More info about STURGE-WEBER SYNDROME; SWS

Histiocytoid cardiomyopathy is an arrhythmogenic disorder characterised by cardiomegaly, severe cardiac arrhythmias or sudden death, and the presence of histiocyte-like cells within the myocardium.

HISTIOCYTOID CARDIOMYOPATHY Is also known as foamy myocardial transformation of infancy|infantile cardiomyopathy with histiocytoid change|infantile xanthomatous cardiomyopathy|cardiomyopathy, oncocytic|cardiomyopathy, infantile xanthomatous|oncocytic cardiomyopathy|cardiomyopathy, focal lipid

Related symptoms:

  • Ventricular septal defect
  • Hydrocephalus
  • Cardiomyopathy
  • Atrial septal defect
  • Congestive heart failure


SOURCES: OMIM ORPHANET MENDELIAN

More info about HISTIOCYTOID CARDIOMYOPATHY

Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A) is an autosomal recessive disorder with characteristic brain and eye malformations, profound mental retardation, and congenital muscular dystrophy. The phenotype includes the alternative clinical designation Walker-Warburg syndrome (WWS), which is associated with death in infancy. 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 Geis et al., 2013 and Riemersma et al., 2015).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, 9; MDDGA9 Is also known as walker-warburg syndrome or muscle-eye brain disease, dag1-related

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Muscular hypotonia
  • Cataract


SOURCES: OMIM MENDELIAN

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9; MDDGA9

Other less relevant matches:

Medium match GORLIN SYNDROME

Gorlin syndrome (GS) is a genodermatosis characterized by multiple early-onset basal cell carcinoma (BCC), odontogenic keratocysts and skeletal abnormalities.

GORLIN SYNDROME Is also known as nbccs|basal cell nevus syndrome|nevoid basal cell carcinoma syndrome|gorlin-goltz syndrome

Related symptoms:

  • Intellectual disability
  • Scoliosis
  • Hypertelorism
  • Neoplasm
  • Strabismus


SOURCES: ORPHANET MENDELIAN

More info about GORLIN SYNDROME

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, 12; MDDGA12 Is also known as walker-warburg syndrome or muscle-eye-brain disease, pomk-related

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 12; MDDGA12

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' (van Reeuwijk et al., 2005).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, 2; MDDGA2 Is also known as walker-warburg syndrome or muscle-eye-brain disease, pomt2-related

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 2; MDDGA2

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

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

Axenfeld-Rieger syndrome is an autosomal dominant disorder of morphogenesis that results in abnormal development of the anterior segment of the eye, and results in blindness from glaucoma in approximately 50% of affected individuals (Fitch and Kaback, 1978). Systemic anomalies are associated, including dental hypoplasia, failure of involution of periumbilical skin, and maxillary hypoplasia (Alkemade, 1969). Genetic Heterogeneity of Axenfeld-Rieger SyndromeLinkage studies indicate that a second type of Axenfeld-Rieger syndrome maps to chromosome 13q14 (RIEG2 ). A third form of Axenfeld-Rieger syndrome (RIEG3 ) is caused by mutation in the FOXC1 gene (OMIM ) on chromosome 6p25.See {109120} for a form of Axenfeld-Rieger syndrome associated with partially absent eye muscles, hydrocephalus, and skeletal abnormalities.

AXENFELD-RIEGER SYNDROME, TYPE 1; RIEG1 Is also known as rieger syndrome, type 1|rgs|rieg

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Scoliosis


SOURCES: OMIM MENDELIAN

More info about AXENFELD-RIEGER SYNDROME, TYPE 1; RIEG1

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 Hydrocephalus and Glaucoma

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Cataract Common - Between 50% and 80% cases
Microphthalmia Common - Between 50% and 80% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Macrocephaly Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Seizures Generalized hypotonia Ventriculomegaly Elevated serum creatine phosphokinase Muscular dystrophy Lissencephaly Congenital muscular dystrophy Scoliosis Strabismus Myopia Polymicrogyria Hearing impairment Microcephaly Cerebral calcification Peters anomaly Intellectual disability, profound Cerebellar vermis hypoplasia Retinal detachment Agyria Abnormality of the cerebral white matter Type II lissencephaly Muscle weakness Arnold-Chiari malformation Cerebellar hypoplasia Congenital glaucoma Hypoplasia of the brainstem Encephalocele Buphthalmos

Rare Symptoms - Less than 30% cases

Coloboma Confusion Hypoplasia of the corpus callosum Intellectual disability, severe Dilatation Short stature Blindness High myopia Flexion contracture Poor head control Visual impairment Cerebellar cyst Neonatal hypotonia Reduced visual acuity Hypertelorism Retinal coloboma Wide nasal bridge Frontal bossing Mandibular prognathia Telecanthus Iris coloboma Respiratory insufficiency Sensorineural hearing impairment Pachygyria Heterotopia Cerebral cortical atrophy Abnormality of the vasculature Corneal opacity Agenesis of corpus callosum Stroke Behavioral abnormality Growth hormone deficiency Short philtrum Anal atresia Cognitive impairment Everted lower lip vermilion Microcornea Hypodontia Hypoplasia of the maxilla Microdontia Thin upper lip vermilion Choanal atresia Hypoplasia of dental enamel Reduced number of teeth Slurred speech Prominent supraorbital ridges Myotonia Abnormality of dental morphology Anal stenosis Aniridia Megalocornea Posterior embryotoxon Conductive hearing impairment Muscular hypotonia Umbilical hernia Capillary hemangioma Autistic behavior Attention deficit hyperactivity disorder Neurological speech impairment Abnormality of eye movement Gingival overgrowth Venous thrombosis Corneal dystrophy Abnormality of vision Hyperostosis Pulmonary embolism Hearing abnormality Heterochromia iridis Hypoplasia of the iris Abnormality of the cerebral vasculature Abnormality of the retinal vasculature Hemianopia Visceral angiomatosis Conjunctival telangiectasia Abnormal choroid morphology Abnormality of the skeletal system Abnormality of the dentition Kyphosis Hernia Hypospadias Visual loss Inguinal hernia Rieger anomaly Anterior synechiae of the anterior chamber Ureteropelvic junction obstruction Nephritis Visual field defect Chorioretinal atrophy Severe vision loss Arnold-Chiari type I malformation Soft skin Multiple renal cysts Elevated serum creatinine Hydrocele testis Optic nerve coloboma High-frequency hearing impairment Pyelonephritis Chronic kidney disease Platybasia Lens luxation Bilateral renal hypoplasia Mild proteinuria Optic nerve dysplasia Scleral staphyloma Renal malrotation Morning glory anomaly Orbital cyst Macular hyperpigmentation Recurrent pyelonephritis Hyperextensible skin Abnormality of the genitourinary system Abnormality of the abdominal wall Abnormality of the kidney Polycoria Bilateral choanal atresia Axenfeld anomaly Abnormally prominent line of Schwalbe Nystagmus Hypertension Edema Renal insufficiency Hydronephrosis Proteinuria Joint laxity Joint hyperflexibility Macular degeneration Stage 5 chronic kidney disease Nephropathy Gliosis Vesicoureteral reflux Progressive visual loss Renal hypoplasia Abnormality of the genital system Renal dysplasia Nephrolithiasis Horseshoe kidney Multicystic kidney dysplasia Abnormality of the eye Hyperreflexia Dysphagia Abnormality of the sense of smell Dilated cardiomyopathy Brachycephaly Carious teeth Arachnodactyly Arrhythmia Hypogonadotrophic hypogonadism Hemivertebrae Melanocytic nevus Vertebral fusion Abnormality of the neck Vertebral wedging Brachydactyly Palmar pits Plantar pits Congestive heart failure Atrial septal defect Cardiomyopathy Ventricular septal defect Feeding difficulties Arachnoid hemangiomatosis Choroidal hemangioma Polyhydramnios Facial hemangioma Hepatic steatosis Epicanthus Severe global developmental delay Abnormal myocardium morphology Hypoplasia of the retina Increased mitochondrial number Myopathy Histiocytoid cardiomyopathy Absent speech Decreased activity of mitochondrial complex I Respiratory failure Abnormal atrioventricular conduction Retinal dystrophy Endocardial fibroelastosis Skeletal myopathy Left ventricular noncompaction Cryptorchidism Leukodystrophy Wolff-Parkinson-White syndrome Holoprosencephaly Supraventricular tachycardia Hypoplastic left heart Ventricular fibrillation Ventricular tachycardia Cardiac arrest Cardiomegaly Neoplasm Sudden cardiac death Stroke-like episode Poor speech Optic atrophy EEG abnormality Hypoplasia of the pons Cerebellar dysplasia Persistent pupillary membrane Moderate myopia Low-set ears Areflexia Retrognathia Deeply set eye Facial palsy Microtia Dandy-Walker malformation Abnormality of the periventricular white matter Decreased fetal movement Large fontanelles Optic nerve hypoplasia Adducted thumb Partial agenesis of the corpus callosum Weak cry Gonadal dysgenesis Retinal dysplasia Corpus callosum atrophy Remnants of the hyaloid vascular system Acute tubular necrosis Retinal atrophy Spinal rigidity Retinal degeneration Growth delay Bilateral sensorineural hearing impairment Progressive microcephaly Respiratory insufficiency due to muscle weakness CNS hypomyelination Nevus flammeus Occipital encephalocele Hypoventilation Abnormally large globe Hemangioma Cafe-au-lait spot Cortical cataract Cleft palate Skeletal muscle hypertrophy Hemiparesis Nevus Cleft lip Hypermetropia Congenital cataract Cleft upper lip Macroglossia Mental deterioration Severe muscular hypotonia Aplasia/Hypoplasia of the corpus callosum Congenital contracture Ureterovesical junction obstruction


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