Hydrocephalus, and Myopia

Diseases related with Hydrocephalus and Myopia

In the following list you will find some of the most common rare diseases related to Hydrocephalus and Myopia 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' (Godfrey et al., 2007).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, 6; MDDGA6 Is also known as walker-warburg syndrome or muscle-eye-brain disease, large-related

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Cataract
  • Flexion contracture
  • Feeding difficulties


SOURCES: OMIM MENDELIAN

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 6; MDDGA6

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:

Macrocephaly refers to an abnormally enlarged head inclusive of the scalp, cranial bones, and intracranial contents. Macrocephaly may be due to megalencephaly (true enlargement of the brain parenchyma), and the 2 terms are often used interchangeably in the genetic literature (reviews by Olney, 2007 and Williams et al., 2008). Autosomal recessive macrocephaly/megalencephaly syndrome is characterized by an enlarged cranium apparent at birth or in early childhood. Affected individuals have intellectual disability and may have dysmorphic facial features resulting from the macrocephaly (summary by Alfaiz et al., 2014).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Abnormal facial shape
  • Cognitive impairment


SOURCES: MESH OMIM MENDELIAN

More info about MACROCEPHALY/MEGALENCEPHALY SYNDROME, AUTOSOMAL RECESSIVE; MGCPH

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

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about INTELLECTUAL DISABILITY-MACROCEPHALY-HYPOTONIA-BEHAVIORAL ABNORMALITIES SYNDROME

Macrocephaly, dysmorphic facies, and psychomotor retardation (MDFPMR) is an autosomal recessive neurodevelopmental disorder characterized by large head and somatic overgrowth apparent at birth followed by global developmental delay. Affected individuals have characteristic dysmorphic facial features and persistently large head, but increased birth weight normalizes with age. Additional neurologic features, including seizures, hypotonia, and gait ataxia, may also occur. Patients show severe intellectual impairment (summary by Ortega-Recalde et al., 2015).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION; MDFPMR

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

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

Top 5 symptoms//phenotypes associated to Hydrocephalus and Myopia

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Cataract Common - Between 50% and 80% cases
Ventriculomegaly Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Cerebellar hypoplasia

Uncommon Symptoms - Between 30% and 50% cases

Lissencephaly

Common Symptoms - More than 50% cases

Muscular dystrophy

Uncommon Symptoms - Between 30% and 50% cases

Elevated serum creatine phosphokinase

Common Symptoms - More than 50% cases

Congenital muscular dystrophy

Uncommon Symptoms - Between 30% and 50% cases

Macrocephaly Microphthalmia Cerebellar cyst Seizures Type II lissencephaly Dilatation High myopia Hypoplasia of the pons Severe muscular hypotonia Abnormality of the cerebral white matter Polymicrogyria Intellectual disability, profound Cerebellar vermis hypoplasia Agyria Abnormal facial shape Downslanted palpebral fissures Absent speech Mandibular prognathia Scoliosis Hypoplasia of the brainstem Glaucoma Retinal detachment Flexion contracture Cerebellar dysplasia Cognitive impairment Feeding difficulties Muscle weakness

Rare Symptoms - Less than 30% cases

Severe global developmental delay Coloboma Poor speech Overgrowth Respiratory insufficiency Buphthalmos Pachygyria Megalencephaly Encephalocele Neonatal hypotonia Frontal bossing Dolichocephaly Delayed speech and language development Dandy-Walker malformation Hypertelorism Poor head control Optic atrophy Microcephaly Communicating hydrocephalus Corneal opacity Intellectual disability, severe Occipital encephalocele Long neck Expressive language delay Hypoventilation Metopic synostosis Arnold-Chiari malformation Abnormally large globe Slender build Retinal coloboma Cortical cataract Long foot CNS hypomyelination Thick corpus callosum Respiratory insufficiency due to muscle weakness Large hands Progressive microcephaly Lumbar hyperlordosis Bilateral sensorineural hearing impairment Retinal degeneration Severe expressive language delay Hearing impairment Disproportionate tall stature Polyhydramnios Long fingers Tall stature Agenesis of corpus callosum Sparse eyebrow Sensorineural hearing impairment Reduced visual acuity Persistent pupillary membrane Growth delay Lower limb asymmetry Polycystic ovaries Hyperostosis Open bite Irregular hyperpigmentation Exostoses Genu recurvatum Heterochromia iridis Abnormal pupil morphology Skeletal dysplasia Venous insufficiency Epibulbar dermoid Subcutaneous lipoma Epidermal nevus Shagreen patch Abnormality of the parathyroid gland Thymus hyperplasia Hemangioma Splenomegaly Cleft palate Aplasia/Hypoplasia of the corpus callosum Visual impairment Cleft lip Hypermetropia Congenital cataract Cleft upper lip Macroglossia Heterotopia Congenital contracture Anteverted nares Skeletal muscle hypertrophy Congenital glaucoma Spinal rigidity Abnormality of the periventricular white matter Retinal atrophy Peters anomaly Abnormal cerebellum morphology Moderate myopia Triangular face Tented upper lip vermilion Long face Scaphocephaly Broad forehead Astigmatism Psychosis Pointed chin Celiac disease Abnormality of the musculature Patellar dislocation Depressivity Patellar subluxation Cortical tubers Adrenal medullary hypoplasia Motor delay Respiratory distress Hyporeflexia Abnormality of skin pigmentation Coarse facial features Holoprosencephaly Left ventricular hypertrophy Retinal dysplasia Spasticity Blindness Muscular hypotonia of the trunk Leukoencephalopathy Optic nerve hypoplasia Areflexia Diffuse white matter abnormalities Leukodystrophy Frontoparietal polymicrogyria Muscular hypotonia Hypoplasia of the corpus callosum Myopathy Respiratory failure Retinal dystrophy Cerebral calcification Ventricular hypertrophy Aqueductal stenosis Arachnodactyly Proptosis Malar flattening Posteriorly rotated ears Prominent forehead Upslanted palpebral fissure Cerebral cortical atrophy Gait ataxia Macrotia Cerebellar atrophy High forehead Kyphoscoliosis Pes planus Difficulty walking Joint laxity Hyperlordosis Prominent nasal bridge Kyphosis High palate Severe hydrocephalus Open mouth Strabismus Diarrhea Hypoglycemia Deeply set eye Hip dislocation Narrow forehead Chronic diarrhea Low-set ears Congenital hip dislocation Torticollis Pyloric stenosis Facial hypotonia Congenital muscular torticollis Increased head circumference Ataxia Bronchogenic cyst


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