Microphthalmia, and Cerebellar vermis hypoplasia

Diseases related with Microphthalmia and Cerebellar vermis hypoplasia

In the following list you will find some of the most common rare diseases related to Microphthalmia and Cerebellar vermis hypoplasia that can help you solving undiagnosed cases.

Top matches:

Meckel syndrome is a rare autosomal recessive lethal condition characterized by an occipital meningoencephalocele, enlarged kidneys with multicystic dysplasia and fibrotic changes in the portal area of the liver and with ductal proliferation, and postaxial polydactyly. For a more complete phenotypic description and information on genetic heterogeneity, see MKS1 (OMIM ).

MECKEL SYNDROME, TYPE 2; MKS2 Is also known as meckel-gruber syndrome, type 2

Related symptoms:

  • Growth delay
  • Cleft palate
  • Intrauterine growth retardation
  • Microphthalmia
  • Polydactyly


SOURCES: OMIM MESH MENDELIAN

More info about MECKEL SYNDROME, TYPE 2; MKS2

Meckel syndrome is an autosomal recessive pre- or perinatal lethal disorder characterized by a combination of renal cysts and variably associated features including developmental anomalies of the central nervous system (typically occipital encephalocele), hepatic ductal dysplasia and cysts, and postaxial polydactyly (summary by Baala et al., 2007).For a more complete phenotypic description and information on genetic heterogeneity of Meckel syndrome, see MKS1 (OMIM ).

MECKEL SYNDROME, TYPE 4; MKS4 Is also known as meckel-gruber syndrome, type 4

Related symptoms:

  • Microcephaly
  • Cleft palate
  • Intrauterine growth retardation
  • Ventricular septal defect
  • Hypoplasia of the corpus callosum


SOURCES: OMIM MENDELIAN

More info about MECKEL SYNDROME, TYPE 4; MKS4

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:

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

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

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

Joubert syndrome-14 is an autosomal recessive developmental disorder characterized by severe mental retardation, hypoplasia of the cerebellar vermis and molar tooth sign (MTS) on brain imaging, hypotonia, abnormal breathing pattern in infancy, and dysmorphic facial features. Additional findings can include renal cysts, abnormal eye movements, and postaxial polydactyly (summary by Boycott et al., 2007 and Huang et al., 2011).For a phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see {213300}.

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about JOUBERT SYNDROME 14; JBTS14

Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart is an autosomal dominant syndrome characterized by onset in infancy of developmental delay, intellectual disability, and behavioral disorders, such as autism spectrum disorders. About half of patients have additional abnormalities, most commonly involving the eye, heart, and genitourinary system. The phenotype is reminiscent of that observed in patients with 1p36 deletion syndrome (OMIM ); RERE is located in the proximal 1p36 critical region (summary by Fregeau et al., 2016).

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT ANOMALIES OF THE BRAIN, EYE, OR HEART; NEDBEH

Top 5 symptoms//phenotypes associated to Microphthalmia and Cerebellar vermis hypoplasia

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

Other less frequent symptoms

Patients with Microphthalmia and Cerebellar vermis hypoplasia. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Ventriculomegaly

Uncommon Symptoms - Between 30% and 50% cases

Encephalocele Cerebellar hypoplasia Elevated serum creatine phosphokinase Coloboma Muscular dystrophy Dandy-Walker malformation Lissencephaly Congenital muscular dystrophy Glaucoma Intellectual disability, profound Myopia Hypoplasia of the brainstem Agyria Type II lissencephaly Growth delay Low-set ears Hypoplasia of the corpus callosum Microcephaly Polydactyly Cleft palate Occipital encephalocele Macrocephaly Abnormality of the cerebral white matter Respiratory insufficiency Feeding difficulties Intrauterine growth retardation Cerebellar cyst Pachygyria Postaxial polydactyly Renal cyst High myopia Polymicrogyria Dilatation Meningocele Peters anomaly Intellectual disability, severe Deeply set eye

Rare Symptoms - Less than 30% cases

Muscle weakness Severe global developmental delay Neonatal hypotonia Retinal detachment Flexion contracture Posteriorly rotated ears Epicanthus Severe muscular hypotonia Scoliosis Hypoplasia of the pons Downslanted palpebral fissures Visual impairment Cerebellar dysplasia Seizures Frontal bossing Agenesis of corpus callosum Poor head control Optic nerve hypoplasia Absent speech Postaxial hand polydactyly Bowing of the long bones Anencephaly Bile duct proliferation Meningoencephalocele Ventricular septal defect Prominent nasal bridge Ptosis Molar tooth sign on MRI Hypertelorism Myopathy Micrognathia Strabismus Corneal opacity Buphthalmos Heterotopia Bilateral renal hypoplasia Ataxia Short palpebral fissure Corneal astigmatism Prominent nose Preaxial polydactyly Jejunal atresia Hypoplastic iris stroma Short columella Malabsorption Retinal vascular tortuosity Duodenal atresia Intestinal atresia Sex reversal Intestinal malrotation Microcornea Sclerocornea Renal hypoplasia Iris coloboma Astigmatism Ectopia pupillae Accessory spleen Cryptorchidism Nystagmus Abnormality of the pinna Cerebral visual impairment Vesicoureteral reflux Blepharophimosis Autistic behavior Postnatal growth retardation Low-set, posteriorly rotated ears Gastroesophageal reflux Autism Abnormal heart morphology Hypospadias Behavioral abnormality Anteverted nares Optic atrophy Dysarthria Short stature Abnormal facial shape Morning glory anomaly Breathing dysregulation Multiple renal cysts Tented upper lip vermilion Open mouth Highly arched eyebrow Abnormality of eye movement Short philtrum Irritability Abnormality of the eye High forehead Pneumonia Malar flattening Hypertension Wide mouth Hypermetropia Hydronephrosis Left ventricular hypertrophy Arnold-Chiari malformation Respiratory insufficiency due to muscle weakness Progressive microcephaly Bilateral sensorineural hearing impairment Retinal degeneration Poor speech Polyhydramnios Reduced visual acuity Sensorineural hearing impairment Hearing impairment Severe hydrocephalus Aqueductal stenosis Ventricular hypertrophy Hypoventilation Abnormality of skin pigmentation Hyporeflexia Respiratory distress Motor delay Holoprosencephaly Leukodystrophy Cerebral calcification Retinal dystrophy Respiratory failure Muscular hypotonia Agenesis of cerebellar vermis Renal dysplasia Atrial septal defect CNS hypomyelination Abnormally large globe Wide nasal bridge Areflexia Cognitive impairment Remnants of the hyaloid vascular system Corpus callosum atrophy Retinal dysplasia Gonadal dysgenesis Weak cry Partial agenesis of the corpus callosum Adducted thumb Large fontanelles Decreased fetal movement Microtia Facial palsy Retrognathia Moderate myopia Retinal coloboma Persistent pupillary membrane Retinal atrophy Abnormality of the periventricular white matter Spinal rigidity Congenital glaucoma Skeletal muscle hypertrophy Congenital contracture Aplasia/Hypoplasia of the corpus callosum Macroglossia Cleft upper lip Congenital cataract Cleft lip Cortical cataract Broad eyebrow


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