Myopia, and Encephalocele

Diseases related with Myopia and Encephalocele

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


Top matches:

Low match MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 12; MDDGA12


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

Low match 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 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

Low match ACROMELIC FRONTONASAL DYSOSTOSIS; AFND


Verloes et al. (1992) described a rare variant of frontonasal dysplasia (see FND1, {136760}), designated acromelic frontonasal dysplasia (AFND), in which similar craniofacial anomalies are associated with variable central nervous system malformations and limb defects including tibial hypoplasia/aplasia, talipes equinovarus, and preaxial polydactyly of the feet.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hypertelorism
  • Cleft palate


SOURCES: OMIM MENDELIAN

More info about ACROMELIC FRONTONASAL DYSOSTOSIS; AFND

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Other less relevant matches:

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 ACROMELIC FRONTONASAL DYSPLASIA


Acromelic frontonasal dysplasia (AFND) is a rare variant of frontonasal dysplasia characterized by distinct craniofacial (large fontanelle, hypertelorism, bifid nasal tip, nasal clefting, brachycephaly, median cleft face, carp-shaped mouth), brain (interhemispheric lipoma, agenesis of the corpus callosum), and limb (tibial hypoplasia/aplasia, club foot, symmetric preaxial polydactyly of the feet and bilateral clubbed and thickened nails of halluces ) malformations as well as intellectual disability. Other manifestations sometimes reported include absent olfactory bulbs, hypopituitarism and cryptorchidism.

ACROMELIC FRONTONASAL DYSPLASIA Is also known as toriello syndrome|acromelic frontonasal dysostosis|afnd

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ACROMELIC FRONTONASAL DYSPLASIA

Low 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

Low 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

Low match OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA


Otospondylomegaepiphyseal dysplasia (OSMED) is an inborn error of cartilage collagen formation characterized by sensorineural hearing loss, enlarged epiphyses, skeletal dysplasia with disproportionately short limbs, vertebral body anomalies and a characteristic facies.

OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA Is also known as chondrodystrophy with sensorineural deafness|weissenbacher-zweymuller syndrome, formerly|nance-insley syndrome|osmed|nance-sweeney chondrodysplasia|wzs, formerly

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Hypertelorism
  • Micrognathia


SOURCES: OMIM ORPHANET MENDELIAN

More info about OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA

Low match CONGENITAL MUSCULAR DYSTROPHY, FUKUYAMA TYPE


Fukuyama type muscular dystrophy (FCMD) is a congenital progressive muscular dystrophy characterized by brain malformation (cobblestone lissencephaly), dystrophic changes in skeletal muscle, severe intellectual deficit, epilepsy and motor impairment.

CONGENITAL MUSCULAR DYSTROPHY, FUKUYAMA TYPE Is also known as walker-warburg syndrome or muscle-eye-brain disease, fktn-related|fukuyama congenital muscular dystrophy|fcmd

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about CONGENITAL MUSCULAR DYSTROPHY, FUKUYAMA TYPE

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

Top 5 symptoms//phenotypes associated to Myopia and Encephalocele

Symptoms // Phenotype % cases
Global developmental delay Very Common - Between 80% and 100% cases
Ventriculomegaly Very Common - Between 80% and 100% cases
Seizures Common - Between 50% and 80% cases
Glaucoma Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Cataract

Uncommon Symptoms - Between 30% and 50% cases


Intellectual disability

Common Symptoms - More than 50% cases


Hydrocephalus

Uncommon Symptoms - Between 30% and 50% cases


Cerebellar vermis hypoplasia

Common Symptoms - More than 50% cases


Cerebellar hypoplasia

Uncommon Symptoms - Between 30% and 50% cases


Agenesis of corpus callosum Hypertelorism Pachygyria Occipital encephalocele Type II lissencephaly Lissencephaly Congenital cataract Polymicrogyria Muscular dystrophy Congenital muscular dystrophy Muscle weakness Microcephaly Flexion contracture Meningocele Microphthalmia Elevated serum creatine phosphokinase Hypoplasia of the brainstem Abnormality of the cerebral white matter Dilatation Visual impairment Buphthalmos Strabismus Cleft palate Cerebellar cyst Hypoplasia of the corpus callosum Cerebellar dysplasia Depressed nasal bridge Intellectual disability, severe Neonatal hypotonia Macrocephaly Retinal detachment Congenital glaucoma Coloboma Heterotopia Severe muscular hypotonia Aplasia/Hypoplasia of the corpus callosum Myopathy Hypoglycosylation of alpha-dystroglycan Brachycephaly Optic atrophy Retinal atrophy Midface retrusion Retinal dysplasia Scoliosis Cryptorchidism Motor delay Intellectual disability, profound Cleft upper lip Micrognathia Agyria High myopia Cortical dysplasia Cleft lip Absent septum pellucidum Retinal degeneration Muscular hypotonia

Rare Symptoms - Less than 30% cases


Bifid nose Optic nerve hypoplasia Holoprosencephaly EMG abnormality Patellar hypoplasia Parietal foramina Generalized muscle weakness Vitreoretinopathy Large sella turcica Retrocerebellar cyst Gait disturbance Nystagmus Malar flattening Choroid plexus cyst Proptosis Cephalocele Renal dysplasia Blindness Frontal bossing Retinal dystrophy Skeletal muscle atrophy Intrauterine growth retardation Dandy-Walker malformation Low-set ears Preaxial foot polydactyly Apnea Megalocornea Epicanthus Abnormal cerebellum morphology Calvarial skull defect Depressed nasal ridge Alopecia Areflexia Visual loss Bulbous nose Short stature Bifid nasal tip EEG abnormality Upper airway obstruction Sensorineural hearing impairment Short nose Talipes equinovarus Abnormality of the skeletal system Congenital contracture Skeletal muscle hypertrophy Telecanthus Wide nasal bridge Broad nasal tip Ptosis Severe global developmental delay Feeding difficulties Respiratory insufficiency Growth delay Peters anomaly Hypermetropia Hearing impairment Spinal rigidity Hypoplasia of the pons Hypopituitarism Synostosis of carpal bones Short long bone Flared metaphysis Epiphyseal dysplasia Disproportionate short stature Abnormal joint morphology Mixed hearing impairment Prominent supraorbital ridges Early ossification of capital femoral epiphyses Enlarged joints Glossoptosis Rhizomelic arm shortening Delayed speech and language development Aplasia/Hypoplasia of the capital femoral epiphysis Large tarsal bones Abnormal lacrimal duct morphology Prominent interphalangeal joints Enlarged epiphyses Premature osteoarthritis Small cervical vertebral bodies Pierre-Robin sequence Subretinal deposits Coronal cleft vertebrae Open operculum Short 5th metacarpal Rhizomelia Rhizomelic leg shortening Beaking of vertebral bodies Recurrent pneumonia Limb undergrowth Short phalanx of finger Peripapillary atrophy Kyphosis Abnormality of the 5th metacarpal Anteverted nares Ventricular septal defect Bifid ureter Occipital meningocele Exudative retinal detachment Delayed skeletal maturation Cerebellar malformation Abnormal vitreous humor morphology Phthisis bulbi Lymphangioma Band keratopathy Lens luxation Long philtrum Arthralgia Abnormal form of the vertebral bodies Short metacarpal Abnormality of the metaphysis Osteoarthritis Lumbar hyperlordosis Dilated third ventricle Abnormality of the skin Otitis media Short palm Conductive hearing impairment Micromelia Platyspondyly Joint stiffness Hyperlordosis Feeding difficulties in infancy Twelfth rib hypoplasia Muscular hypotonia of the trunk Respiratory distress Rigidity Atrial septal defect Elevated hepatic transaminase Wide intermamillary distance Recurrent aspiration pneumonia Abnormality of the optic disc Postaxial polydactyly Total anomalous pulmonary venous return Low-set, posteriorly rotated ears Gastroesophageal reflux Hyperechogenic kidneys Recurrent respiratory infections Hypospadias Absent speech Renal insufficiency Brachydactyly Failure to thrive Long clavicles Short ribs Renal cortical cysts Chronic lung disease Molar tooth sign on MRI Supernumerary nipple Bell-shaped thorax Enlarged cisterna magna Overfolded helix Cone-shaped epiphysis Increased intracranial pressure Oculomotor apraxia Dilation of lateral ventricles Redundant neck skin Tachypnea Colpocephaly Abnormality of the basal ganglia Abnormal corpus callosum morphology Duane anomaly Hypoplasia of the pyramidal tract Pectus excavatum Hip dislocation Brain atrophy Elongated superior cerebellar peduncle Pulmonic stenosis Arthrogryposis multiplex congenita Dolichocephaly Dilated cardiomyopathy Camptodactyly of finger Bradycardia Abnormality of the pinna Thoracic hypoplasia Proximal femoral metaphyseal irregularity Abnormality of the acetabulum Dysgenesis of the cerebellar vermis Cervical spinal canal stenosis Preauricular skin tag Congenital hip dislocation Thoracic hemivertebrae Weak cry Exaggerated startle response Myocardial fibrosis Ankle contracture Anencephaly Short digit Atrophy/Degeneration affecting the brainstem Transposition of the great arteries Hemivertebrae Generalized amyotrophy Multiple joint contractures Calf muscle hypertrophy Increased variability in muscle fiber diameter Mask-like facies Plagiocephaly Knee flexion contracture Macular hypoplasia Microcornea Aplasia cutis congenita of scalp Opacification of the corneal stroma Decreased light- and dark-adapted electroretinogram amplitude Undetectable electroretinogram Hemiplegia/hemiparesis Aplasia/Hypoplasia of the cerebellum Abnormality of the voice Infantile muscular hypotonia Everted lower lip vermilion Hypoplasia of the retina Abnormality of movement Neurological speech impairment Pallor Myoclonus Hypertonia Cognitive impairment Uncontrolled eye movements Short nasal bridge Vertical clivus Large fontanelles Abnormal toenail morphology Coronal craniosynostosis Median cleft lip Sparse eyelashes Sparse and thin eyebrow Hypohidrosis Short palpebral fissure Enlarged flash visual evoked potentials Sparse hair Craniosynostosis Wide mouth Hyperkeratosis Upslanted palpebral fissure Hyperhidrosis Spasticity Midline defect of the nose Broad columella Poor head control Macroglossia Cortical cataract Retinal coloboma Abnormally large globe Hypoventilation CNS hypomyelination Arnold-Chiari malformation Persistent pupillary membrane Respiratory insufficiency due to muscle weakness Progressive microcephaly Bilateral sensorineural hearing impairment Poor speech Polyhydramnios Reduced visual acuity Abnormality of the periventricular white matter Moderate myopia Frontal balding Bilateral talipes equinovarus U-Shaped upper lip vermilion Thick nail Widow's peak Broad foot Lipoma Facial cleft Overlapping toe Syndactyly Bilateral cryptorchidism Preaxial polydactyly Oligodontia Wide anterior fontanel Wide nose Talipes Polydactyly Alopecia totalis Thick nasal alae Anomalous pulmonary venous return Ataxia Mental deterioration Retrognathia Patent ductus arteriosus Cerebral atrophy Cerebellar atrophy Abnormal facial shape Abnormal aldolase level Leukemia Thick cerebral cortex Aplasia/Hypoplasia involving the skeletal musculature Hypoplastic male external genitalia Chorioretinal dysplasia Abnormal lactate dehydrogenase activity Macrogyria Nyctalopia Joint hyperflexibility Metatarsus valgus Pyloric stenosis Large forehead Acute lymphoblastic leukemia Aplasia cutis congenita Chorioretinal atrophy Dextrocardia Ectopia lentis Corneal dystrophy Vesicoureteral reflux Macular degeneration Horizontal nystagmus Narrow face Abnormality of the hair Thin skin Progressive visual loss Severe hydrocephalus Abnormality of the cerebellar vermis Anterior pituitary hypoplasia Hyporeflexia Corneal opacity Microtia Retinopathy Protruding ear Hydronephrosis Posteriorly rotated ears Abnormality of the glabella Oral cleft Midline central nervous system lipomas Hypoplasia of the olfactory bulb Aplasia/Hypoplasia of the tibia Dermoid cyst Decreased lacrimation Median cleft palate Anal atresia Iris coloboma Abnormal levels of creatine kinase in blood Abnormality of the optic nerve Meningoencephalocele Posterior fossa cyst Remnants of the hyaloid vascular system Excessive daytime sleepiness Muscle fiber splitting Aqueductal stenosis Abnormal cortical gyration Bifid uvula Bilateral cleft lip Submucous cleft hard palate Abnormality of neuronal migration Anophthalmia Atresia of the external auditory canal Hypoplasia of penis Specific learning disability Aplasia/Hypoplasia involving bones of the thorax



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