Hydrocephalus, and Corneal opacity

Diseases related with Hydrocephalus and Corneal opacity

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


Top matches:

Low match HISTIOCYTOID CARDIOMYOPATHY


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

Low match MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9; MDDGA9


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

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

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Other less relevant matches:

Low match 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 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

Low match INHERITED CANCER-PREDISPOSING SYNDROME DUE TO BIALLELIC BRCA2 MUTATIONS


Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations is a rare cancer-predisposing syndrome, associated with the D1 subgroup of Fanconi anemia (FA), characterized by progressive bone marrow failure, cardiac, brain, intestinal or skeletal abnormalities and predisposition to various malignancies. Bone marrow suppression and the incidence of developmental abnormalities are less frequent than in other FA, but cancer risk is very high with the spectrum of childhood cancers including Wilms tumor, brain tumor (often medulloblastoma) and ALL/AML.

INHERITED CANCER-PREDISPOSING SYNDROME DUE TO BIALLELIC BRCA2 MUTATIONS Is also known as fad1

Related symptoms:

  • Short stature
  • Microcephaly
  • Growth delay
  • Neoplasm
  • Failure to thrive


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about INHERITED CANCER-PREDISPOSING SYNDROME DUE TO BIALLELIC BRCA2 MUTATIONS

Low 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

Low match MUSCLE-EYE-BRAIN DISEASE


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' (summary by Godfrey et al., 2007).For a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 (OMIM ).

MUSCLE-EYE-BRAIN DISEASE Is also known as meb syndrome|santavuori congenital muscular dystrophy|walker-warburg syndrome or muscle-eye-brain disease, pomgnt1-related|muscle-eye-brain syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MUSCLE-EYE-BRAIN DISEASE

Low match MECKEL SYNDROME


Meckel syndrome (MKS) is a rare, lethal, genetic, multiple congenital anomaly disorder characterized by the triad of brain malformation (mainly occipital encephalocele), large polycystic kidneys, and polydactyly, as well as associated abnormalities that may include cleft lip/palate, cardiac and genital anomalies, central nervous system (CNS) malformations, liver fibrosis, and bone dysplasia.

MECKEL SYNDROME Is also known as meckel-gruber syndrome

Related symptoms:

  • Microcephaly
  • Hypertelorism
  • Micrognathia
  • Cleft palate
  • Cataract


SOURCES: ORPHANET MENDELIAN

More info about MECKEL SYNDROME

Low match GAUCHER DISEASE-OPHTHALMOPLEGIA-CARDIOVASCULAR CALCIFICATION SYNDROME


Gaucher disease - ophthalmoplegia - cardiovascular calcification is a variant of Gaucher disease, also known as a Gaucher-like disease that is characterized by cardiac involvement.

GAUCHER DISEASE-OPHTHALMOPLEGIA-CARDIOVASCULAR CALCIFICATION SYNDROME Is also known as cardiovascular gaucher disease|gaucher-like disease|gaucher disease type 3c

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Strabismus


SOURCES: OMIM ORPHANET MENDELIAN

More info about GAUCHER DISEASE-OPHTHALMOPLEGIA-CARDIOVASCULAR CALCIFICATION SYNDROME

Low match INFANTILE SIALIC ACID STORAGE DISEASE; ISSD


Sialic acid storage diseases are autosomal recessive neurodegenerative disorders that may present as a severe infantile form (ISSD) or as a slowly progressive adult form that is prevalent in Finland (Salla disease). The main symptoms are hypotonia, cerebellar ataxia, and mental retardation; visceromegaly and coarse features are also present in the infantile cases. Progressive cerebellar atrophy and dysmyelination have been documented by MRI. Enlarged lysosomes are seen on electron microscopic studies, and patients excrete large amounts of free sialic acid in the urine (Verheijen et al., 1999).

INFANTILE SIALIC ACID STORAGE DISEASE; ISSD Is also known as nsd|sialuria, infantile form|n-acetylneuraminic acid storage disease|nana storage disease

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about INFANTILE SIALIC ACID STORAGE DISEASE; ISSD

Top 5 symptoms//phenotypes associated to Hydrocephalus and Corneal opacity

Symptoms // Phenotype % cases
Microphthalmia Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Cataract Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Elevated serum creatine phosphokinase Congenital muscular dystrophy Seizures Muscular dystrophy Cerebellar hypoplasia Lissencephaly Dilatation Agenesis of corpus callosum Microcephaly Myopathy Hypoplasia of the corpus callosum Abnormality of the cerebral white matter Myopia Ventriculomegaly Severe global developmental delay High myopia Intellectual disability, profound Cognitive impairment Dandy-Walker malformation Encephalocele Opacification of the corneal stroma Severe muscular hypotonia Hypoplasia of the brainstem Type II lissencephaly Coloboma Micrognathia Spasticity Cerebellar cyst Muscular hypotonia Peters anomaly Cardiomegaly Congestive heart failure

Rare Symptoms - Less than 30% cases


Optic nerve hypoplasia Splenomegaly Cryptorchidism Congenital glaucoma Failure to thrive Hepatosplenomegaly Hydronephrosis Short stature Accessory spleen Cerebellar dysplasia Hypoplasia of the pons Sclerocornea Agyria Aplasia/Hypoplasia of the corpus callosum Hepatomegaly Cortical dysplasia Pachygyria Ventricular hypertrophy Anencephaly Retinal dysplasia Microcornea Hyporeflexia Respiratory distress Ptosis Pallor Glaucoma Cleft palate Buphthalmos Polymicrogyria Strabismus Nystagmus Intellectual disability, severe Cerebellar vermis hypoplasia Renal hypoplasia Hypertonia Holoprosencephaly Hypoplasia of the retina Optic atrophy Hypertelorism Aortic valve stenosis Hearing impairment Cystic liver disease Horizontal nystagmus Ophthalmoplegia Decreased body weight Uncontrolled eye movements Pes cavus Short nasal bridge Brachycephaly Mitral regurgitation Pancytopenia Dry skin Generalized tonic-clonic seizures Low-set, posteriorly rotated ears Lobar holoprosencephaly Oligohydramnios Preaxial hand polydactyly Anophthalmia Postaxial foot polydactyly Multicystic kidney dysplasia Asplenia Situs inversus totalis Bowing of the long bones Furrowed tongue Depressed nasal ridge Congenital hepatic fibrosis Ambiguous genitalia Aortic regurgitation Sloping forehead True hermaphroditism Ureteral duplication Postaxial hand polydactyly Pancreatic cysts Aplasia/Hypoplasia of the iris Full cheeks Talipes Abnormal chorioretinal morphology Urethral atresia Male pseudohermaphroditism Aplasia/Hypoplasia of the tongue Abnormality of cardiovascular system morphology Enlarged flash visual evoked potentials Pancreatic fibrosis Oculomotor apraxia Ventricular septal defect Cachexia Ascites Epicanthus Abnormality of the skeletal system Anteverted nares Edema Cerebellar atrophy Cerebral atrophy Hernia Inguinal hernia Osteopenia Coarse facial features Respiratory tract infection Abnormality of the foot Hypopigmentation of the skin Premature birth Ataxia Nephrotic syndrome Gingival overgrowth Hydrops fetalis Aspiration Abnormality of the thorax Metaphyseal irregularity Esophageal atresia Fair hair Dysostosis multiplex Conjugated hyperbilirubinemia Visceromegaly Vacuolated lymphocytes J-shaped sella turcica High palate Cardiovascular calcification Heart murmur Abnormal saccadic eye movements Exertional dyspnea Abnormal heart valve morphology Abnormal EKG Mitral stenosis Communicating hydrocephalus Supranuclear gaze palsy Foam cells Abnormal mitral valve morphology Abnormal aortic valve morphology Abnormality of the pulmonary artery Abnormal aortic morphology Reticular hyperpigmentation Aortic valve calcification Corneal crystals Aortic arch calcification Mitral valve calcification Supranuclear ophthalmoplegia Spontaneous, recurrent epistaxis Abnormal aortic arch morphology Decreased light- and dark-adapted electroretinogram amplitude Elevated serum acid phosphatase Calcification of the aorta Bacterial endocarditis Decreased beta-glucocerebrosidase protein and activity Abnormality of toe Cardiac valve calcification Slowed horizontal saccades Hypometric horizontal saccades Abnormal common carotid artery morphology Hypoglycosylation of alpha-dystroglycan Duodenal atresia Undetectable electroretinogram Respiratory insufficiency Micropenis Renal cyst Decreased testicular size Heterotopia Renal dysplasia Absent septum pellucidum Occipital encephalocele Renal cortical cysts Optic nerve dysplasia Feeding difficulties Motor delay Abnormality of skin pigmentation Poor head control Retinal detachment Left ventricular hypertrophy Aqueductal stenosis Severe hydrocephalus Growth delay Neoplasm Anemia Intrauterine growth retardation Leukemia Anal atresia Esotropia Blindness Leukodystrophy Cafe-au-lait spot Wolff-Parkinson-White syndrome Cardiomyopathy Atrial septal defect Arrhythmia Dilated cardiomyopathy Hepatic steatosis Sudden cardiac death Cardiac arrest Ventricular tachycardia Ventricular fibrillation Hypoplastic left heart Supraventricular tachycardia Left ventricular noncompaction Cerebral calcification Abnormal myocardium morphology Skeletal myopathy Endocardial fibroelastosis Abnormal atrioventricular conduction Decreased activity of mitochondrial complex I Histiocytoid cardiomyopathy Increased mitochondrial number Acute tubular necrosis Macrocephaly Absent speech Respiratory failure Retinal dystrophy Short thumb Bone marrow hypocellularity Meningocele Neonatal hypotonia Bilateral renal hypoplasia Hypoplastic iris stroma Jejunal atresia Corneal astigmatism Muscle weakness Visual impairment Gait disturbance Malar flattening Midface retrusion Myoclonus EEG abnormality Neurological speech impairment Intestinal atresia Congenital cataract Abnormality of movement Retinal degeneration Everted lower lip vermilion Generalized muscle weakness EMG abnormality Infantile muscular hypotonia Abnormality of the voice Aplasia/Hypoplasia of the cerebellum Hemiplegia/hemiparesis Retinal atrophy Megalocornea Retinal vascular tortuosity Sex reversal Horseshoe kidney Wide nasal bridge Breast carcinoma Myelodysplasia Acute myeloid leukemia Anteriorly placed anus Lipoma Acute leukemia Chromosome breakage Medulloblastoma Chromosomal breakage induced by crosslinking agents T-cell acute lymphoblastic leukemias Low-set ears Polydactyly Ectopia pupillae Deeply set eye Abnormality of the pinna Wide mouth Prominent nasal bridge Malabsorption Astigmatism Iris coloboma Intestinal malrotation Prominent nose Short palpebral fissure Preaxial polydactyly Short columella Fetal ascites



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