Visual impairment, and Encephalocele

Diseases related with Visual impairment and Encephalocele

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


Top matches:

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

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

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Other less relevant matches:

Low match BLEPHARO-CHEILO-ODONTIC SYNDROME


Blepharo-cheilo-odontic syndrome is an ectodermal dysplasia syndrome characterized by the association of abnormalities of the eyelids, lips, and teeth.

BLEPHARO-CHEILO-ODONTIC SYNDROME Is also known as lagophthalmia with bilateral cleft lip and palate|clefting, ectropion, and conical teeth|ectropion, inferior, with cleft lip and/or palate|lagophthalmia-cleft lip and palate syndrome|bcd syndrome|blepharocheilodontic syndrome|elschnig syndrome|bcds|elschi

Related symptoms:

  • Hypertelorism
  • Neoplasm
  • Abnormal facial shape
  • Cleft palate
  • Blindness


SOURCES: ORPHANET OMIM MENDELIAN

More info about BLEPHARO-CHEILO-ODONTIC SYNDROME

Low match ARRHINIA-CHOANAL ATRESIA-MICROPHTHALMIA SYNDROME


Arhinia-choanal atresia-microphthalmia is a malformation disorder characterized by complete or incomplete absence of nose (arrhinia), choanal atresia, microphthalmia, anophthalmia and cleft or high palate.

ARRHINIA-CHOANAL ATRESIA-MICROPHTHALMIA SYNDROME Is also known as arhinia, choanal atresia, microphthalmia, and hypogonadotropic hypogonadism

Related symptoms:

  • Hearing impairment
  • Hypertelorism
  • Cleft palate
  • Cataract
  • Cryptorchidism


SOURCES: ORPHANET OMIM MENDELIAN

More info about ARRHINIA-CHOANAL ATRESIA-MICROPHTHALMIA SYNDROME

Low match LEBER CONGENITAL AMAUROSIS


Leber congenital amaurosis (LCA) is a retinal dystrophy defined by blindness and responses to electrophysiological stimulation (Ganzfeld electroretinogram (ERG)) below threshold, associated with severe visual impairment within the first year of life.

LEBER CONGENITAL AMAUROSIS Is also known as crb|amaurosis congenita of leber i|lca|amaurosis congenita of leber|retinal blindness, congenital

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Growth delay


SOURCES: OMIM ORPHANET MENDELIAN

More info about LEBER CONGENITAL AMAUROSIS

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 FRASER SYNDROME


Fraser syndrome is a rare clinical entity including as main characteristics cryptophthalmos and syndactyly.

FRASER SYNDROME Is also known as cryptophthalmos-syndactyly syndrome

Related symptoms:

  • Intellectual disability
  • Microcephaly
  • Hypertelorism
  • Cryptorchidism
  • High palate


SOURCES: ORPHANET MENDELIAN

More info about FRASER SYNDROME

Low match TREACHER COLLINS SYNDROME 1; TCS1


Treacher Collins syndrome is a disorder of craniofacial development. The features include antimongoloid slant of the eyes, coloboma of the lid, micrognathia, microtia and other deformity of the ears, hypoplastic zygomatic arches, and macrostomia. Conductive hearing loss and cleft palate are often present (Dixon, 1996). Genetic Heterogeneity of Treacher Collins SyndromeTreacher Collins syndrome-2 (TCS2 ) is caused by mutation in the POLR1D gene (OMIM ) on chromosome 13q12. Treacher Collins syndrome-3 (TCS3 ) is caused by mutation in the POLR1C gene (OMIM ) on chromosome 6p21.

TREACHER COLLINS SYNDROME 1; TCS1 Is also known as mfd1|tcs|treacher collins syndrome|tcof|mandibulofacial dysostosis|treacher collins-franceschetti syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Hypertelorism


SOURCES: ORPHANET OMIM MENDELIAN

More info about TREACHER COLLINS SYNDROME 1; TCS1

Low match JOUBERT SYNDROME WITH OCULAR DEFECT


Joubert syndrome with ocular defect is, along with pure JS, the most frequent subtype of Joubert syndrome and related disorders (JSRD, see these terms) characterized by the neurological features of JS associated with retinal dystrophy.

JOUBERT SYNDROME WITH OCULAR DEFECT Is also known as joubert syndrome with retinopathy|js-o

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Scoliosis
  • Ataxia


SOURCES: ORPHANET MENDELIAN

More info about JOUBERT SYNDROME WITH OCULAR DEFECT

Top 5 symptoms//phenotypes associated to Visual impairment and Encephalocele

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

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

Uncommon Symptoms - Between 30% and 50% cases


Hypertelorism Hydrocephalus Microcephaly Agenesis of corpus callosum Muscular dystrophy Cleft palate Generalized hypotonia Hearing impairment Coloboma Type II lissencephaly Cryptorchidism Cerebellar vermis hypoplasia Hypoplasia of the brainstem Congenital muscular dystrophy Lissencephaly Blindness Elevated serum creatine phosphokinase Cerebellar hypoplasia Oral cleft Cleft lip Ventriculomegaly Glaucoma Neonatal hypotonia Dilatation Conductive hearing impairment Retinal degeneration Intellectual disability, severe Reduced number of teeth Choanal atresia Cleft upper lip Polymicrogyria Myopia Congenital cataract Iris coloboma Feeding difficulties Nystagmus Muscular hypotonia Severe muscular hypotonia Visual loss Abnormality of cardiovascular system morphology Opacification of the corneal stroma Strabismus Scoliosis Dental malocclusion Muscle weakness

Rare Symptoms - Less than 30% cases


Hemiplegia/hemiparesis Retinal atrophy Hypoplasia of the pons Gait disturbance Retinal dystrophy Buphthalmos Tremor Cerebellar dysplasia Micrognathia Cerebellar cyst Malar flattening Abnormality of the eye Abnormality of the dentition Myelomeningocele Hypospadias Midface retrusion Atresia of the external auditory canal Scrotal hypoplasia Low-set, posteriorly rotated ears High palate Anophthalmia Apnea Agenesis of permanent teeth Lacrimal duct stenosis Ptosis Anal atresia Finger syndactyly Aplasia/Hypoplasia of the corpus callosum Congenital glaucoma Decreased light- and dark-adapted electroretinogram amplitude Pachygyria Growth delay High myopia Cortical dysplasia Occipital encephalocele Retinal dysplasia Retinal coloboma Sensorineural hearing impairment Micropenis Hypoplasia of the corpus callosum Heterotopia Cognitive impairment Respiratory insufficiency Abnormality of the cerebral white matter Hypermetropia Spasticity Intellectual disability, profound Severe global developmental delay Flexion contracture Depressed nasal bridge Ambiguous genitalia Undetectable electroretinogram Hypoglycosylation of alpha-dystroglycan Uncontrolled eye movements Hypoplasia of the retina Short nasal bridge Enlarged flash visual evoked potentials Oculomotor apraxia Wide nasal bridge Hand polydactyly Wide intermamillary distance Umbilical hernia Abnormal vertebral morphology Aganglionic megacolon Meningocele Pulmonary hypoplasia Underdeveloped nasal alae Toe syndactyly Aplasia/Hypoplasia of the cerebellum Dextrocardia Foot polydactyly Fundus atrophy Eye poking Hyperthreoninuria Hyperthreoninemia Optic atrophy Myopathy Hypertonia Abnormality of the hypothalamus-pituitary axis Myoclonus EEG abnormality Pallor Neurological speech impairment Megalocornea Abnormality of movement Everted lower lip vermilion Generalized muscle weakness EMG abnormality Holoprosencephaly Infantile muscular hypotonia Optic nerve hypoplasia Abnormality of the voice Biparietal narrowing Renal hypoplasia Molar tooth sign on MRI Hypoplasia of penis Long face Omphalocele Preauricular skin tag Respiratory distress Hypoplasia of the pharynx Projection of scalp hair onto lateral cheek Abnormal heart morphology Widely spaced primary teeth Narrow mouth Ectopic adrenal gland Sparse lower eyelashes Lower eyelid coloboma Protruding ear Talipes equinovalgus Microtia Sparse eyelashes Abnormal parotid gland morphology Abnormality of the outer ear Sleep apnea Upper eyelid coloboma Glossoptosis Obstructive sleep apnea Mandibulofacial dysostosis Choanal stenosis Abnormality of the nose Cleft soft palate Accessory spleen Anotia Bilateral microphthalmos Downslanted palpebral fissures Malformed lacrimal duct Dental crowding Bicornuate uterus Highly arched eyebrow Multicystic kidney dysplasia Prominent nasal bridge Vertebral segmentation defect Anal stenosis External ear malformation Abnormal lung lobation Tracheal stenosis Calvarial skull defect Ectopic anus Bifid tongue Abnormal hair pattern Vaginal atresia Midline nasal groove Abnormal vagina morphology Subglottic stenosis Laryngeal stenosis Anteverted nares Abnormality of the middle ear Female pseudohermaphroditism Urethral atresia Cryptophthalmos Cleft ala nasi Ataxia Wide pubic symphysis Lacrimal duct aplasia Wide mouth Preauricular pit Aplasia/Hypoplasia of the cerebellar vermis Flat face Moderate myopia Neoplasm Abnormal facial shape Syndactyly Clinodactyly Posteriorly rotated ears Upslanted palpebral fissure Hypothyroidism High forehead Sparse hair Carious teeth Hypodontia Peters anomaly Ectodermal dysplasia Small nail Cutaneous syndactyly Oligodontia Abnormality of vision Ectropion Overfolded helix Vertebral fusion Bilateral cleft lip Abnormal eyelid morphology Bilateral cleft lip and palate High anterior hairline Persistent pupillary membrane Abnormality of the periventricular white matter Abnormal hair quantity Poor speech Hydronephrosis Renal cyst Dandy-Walker malformation Decreased testicular size Renal dysplasia Absent septum pellucidum Anencephaly Renal cortical cysts Optic nerve dysplasia Macrocephaly Reduced visual acuity Polyhydramnios Bilateral sensorineural hearing impairment Spinal rigidity Progressive microcephaly Respiratory insufficiency due to muscle weakness Arnold-Chiari malformation Poor head control CNS hypomyelination Hypoventilation Abnormally large globe Agyria Cortical cataract Macroglossia Congenital contracture Skeletal muscle hypertrophy Conical tooth Distichiasis Abnormality of the optic disc Pigmentary retinopathy Absent paranasal sinuses Hepatomegaly Abnormality of the skeletal system Rod-cone dystrophy Mandibular prognathia Coarse facial features Thin upper lip vermilion Photophobia Abnormality of the kidney Retinopathy Short philtrum Talipes Narrow forehead Frontal encephalocele Exotropia Abnormality of retinal pigmentation Low anterior hairline Cone/cone-rod dystrophy Abnormal electroretinogram Abnormality of neuronal migration High hypermetropia Keratoconus Hyperactive deep tendon reflexes Congenital blindness Severe vision loss Pendular nystagmus Aplasia of the nose Aplasia/Hypoplasia involving the nose Unilateral cleft lip Corneal opacity Epidermoid cyst Meningoencephalocele Thyroid agenesis Ectropion of lower eyelids Dermoid cyst Euryblepharon Multiple rows of eyelashes Low-set ears Edema Hernia Inguinal hernia Hypogonadism Synophrys Abnormality of the sense of smell Delayed puberty Hypoplasia of the maxilla Broad nasal tip Primary amenorrhea Hypogonadotrophic hypogonadism Anosmia Limb-girdle muscular dystrophy Hypoplastic labia majora Hyposmia Lacrimation abnormality Hypoplasia of teeth Diastema Abnormal pattern of respiration



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