Microphthalmia, and Polymicrogyria

Diseases related with Microphthalmia and Polymicrogyria

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

Top matches:

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Ataxia
  • Delayed speech and language development


SOURCES: OMIM MENDELIAN

More info about CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 6; CDCBM6

Lissencephaly-8 is an autosomal recessive neurologic disorder characterized by delayed psychomotor development, intellectual disability with poor or absent speech, early-onset refractory seizures, and hypotonia. Brain imaging shows variable features, including cortical gyral abnormalities and hypoplasia of the corpus callosum, brainstem, and cerebellum (summary by Jerber et al., 2016).For a general description and a discussion of genetic heterogeneity lissencephaly, see LIS1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about LISSENCEPHALY 8; LIS8

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

Other less relevant matches:

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

WARBURG MICRO SYNDROME 2; WARBM2 Is also known as micro syndrome 2

Related symptoms:

  • Global developmental delay
  • Microcephaly
  • Cataract
  • Cryptorchidism
  • Flexion contracture


SOURCES: OMIM MENDELIAN

More info about WARBURG MICRO SYNDROME 2; WARBM2

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

Medium match CURRY-JONES SYNDROME

Curry-Jones syndrome is a form of syndromic craniosynostosis characterized by unilateral coronal craniosynostosis or multiple suture synostosis associated with complete or partial agenesis of the corpus callosum, preaxial polysyndactyly and syndactyly of hands and/or feet, along with anomalies of the skin (characteristic pearly white areas that become scarred and atrophic, abnormal hair growth around the eyes and/or cheeks, and on the limbs), eyes (iris colobomas, microphthalmia,) and intestine (congenital short gut, malrotation, dysmotility, chronic constipation, bleeding and myofibromas). Developmental delay and variable degrees of intellectual disability may also be observed. Multiple intra-abdominal smooth muscle hamartomas, trichoblastoma of the skin, occipital meningoceles and development of desmoplastic medulloblastoma have been reported.

CURRY-JONES SYNDROME Is also known as corpus callosum agenesis-polysyndactyly syndrome|craniofacial malformations, asymmetric, with polysyndactyly and abnormal skin and gut development

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about CURRY-JONES SYNDROME

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

Medium match MICRO SYNDROME

Micro syndrome is an autosomal recessive disorder caracterised by ocular and neurodevelopmental defects and by microgenitalia. It presents with severe intellectual disability, microcephaly, congenital cataract, microcornea, microphthalmia, agenesis/hypoplasia of the corpus callosum, and hypogenitalism.

MICRO SYNDROME Is also known as warbm|warburg micro syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about MICRO SYNDROME

Top 5 symptoms//phenotypes associated to Microphthalmia and Polymicrogyria

Symptoms // Phenotype % cases
Global developmental delay Very Common - Between 80% and 100% cases
Cataract Very Common - Between 80% and 100% cases
Intellectual disability Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Microphthalmia and Polymicrogyria. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Lissencephaly

Uncommon Symptoms - Between 30% and 50% cases

Elevated serum creatine phosphokinase

Common Symptoms - More than 50% cases

Ventriculomegaly

Uncommon Symptoms - Between 30% and 50% cases

Hypoplasia of the corpus callosum Cerebellar hypoplasia Muscular dystrophy Hypoplasia of the brainstem Hydrocephalus Intellectual disability, severe Type II lissencephaly Congenital muscular dystrophy Glaucoma Congenital cataract Cerebellar cyst Myopia Encephalocele Intellectual disability, profound Muscular hypotonia of the trunk Pachygyria Optic atrophy Spasticity Seizures Brachycephaly Cerebellar vermis hypoplasia Aplasia/Hypoplasia of the corpus callosum Abnormality of the cerebral white matter Buphthalmos Dilatation Flexion contracture Muscular hypotonia Visual impairment Cerebellar dysplasia Hypoplasia of the pons Microcornea Optic nerve hypoplasia Muscle weakness Cortical dysplasia Myopathy Heterotopia Absent speech Retinal dysplasia Severe muscular hypotonia

Rare Symptoms - Less than 30% cases

Coloboma Micrognathia Postnatal microcephaly Low anterior hairline Scrotal hypoplasia Generalized hirsutism Spastic diplegia Scoliosis Hirsutism Agenesis of corpus callosum Respiratory insufficiency Neonatal hypotonia Congenital glaucoma Severe global developmental delay Peters anomaly Deeply set eye Nystagmus Ptosis Retinal atrophy Abnormal cerebellum morphology Macrotia Cryptorchidism High myopia Cognitive impairment Holoprosencephaly Agyria Retinal detachment Micropenis Macrocephaly Short nose Severe postnatal growth retardation Pallor Neurological speech impairment Abnormality of visual evoked potentials Aplasia/Hypoplasia of the cerebellum Abnormality of movement Infantile muscular hypotonia Abnormality of the voice Retinal degeneration Everted lower lip vermilion EEG abnormality Generalized muscle weakness EMG abnormality Opacification of the corneal stroma Cerebral visual impairment Hypertonia Myoclonus Midface retrusion Malar flattening Megalocornea Gait disturbance Strabismus Cerebellar vermis atrophy Abnormality of thumb phalanx Duplication of thumb phalanx Hemimegalencephaly Cutaneous syndactyly of toes Anterior plagiocephaly Medulloblastoma Optic nerve coloboma Chronic constipation Hemiplegia/hemiparesis Undetectable electroretinogram Meningocele Narrow mouth Cerebellar atrophy Abnormal localization of kidney Decreased testicular size Kyphosis Hypogonadism Cerebral cortical atrophy Hydronephrosis Intrauterine growth retardation Low-set, posteriorly rotated ears Tetraplegia Joint stiffness Upper limb spasticity Foot polydactyly Short philtrum Anteverted nares Wide nasal bridge Hypoplastic labia minora Short nasal bridge Abnormality of retinal pigmentation Delayed puberty Decreased light- and dark-adapted electroretinogram amplitude Hypoglycosylation of alpha-dystroglycan Uncontrolled eye movements Hypoplasia of the retina Retinal coloboma Decreased muscle mass Spastic tetraplegia Enlarged flash visual evoked potentials Short stature Hypoplasia of penis High palate Peripheral neuropathy Clitoral hypoplasia Arnold-Chiari type I malformation Facial palsy Anal stenosis Cleft lip Global brain atrophy Hypoplastic labia majora Asymmetry of the ears Undetectable visual evoked potentials Growth delay Cleft palate Hypermetropia Prominent nasal bridge Cleft upper lip Macroglossia Congenital contracture Skeletal muscle hypertrophy Spinal rigidity Abnormality of the periventricular white matter Overlapping toe Postnatal growth retardation Moderate myopia Abnormal myelination Ataxia Delayed speech and language development Talipes equinovarus Generalized myoclonic seizures Occipital encephalocele Delayed ability to walk Blindness Poor head control Leukoencephalopathy Respiratory failure Corneal opacity Retinal dystrophy Cerebral calcification Leukodystrophy Persistent pupillary membrane Low-set ears Cutaneous finger syndactyly Horizontal nystagmus Toe syndactyly Facial asymmetry Iris coloboma Intestinal malrotation Abnormality of the skin Broad thumb Narrow palpebral fissure Blepharophimosis Hypopigmented skin patches Bilateral ptosis Preaxial polydactyly Preaxial hand polydactyly Basal cell carcinoma Aplasia/Hypoplasia of the skin Finger syndactyly Craniosynostosis Frontal bossing Adducted thumb Areflexia Retrognathia Microtia Dandy-Walker malformation Decreased fetal movement Large fontanelles Partial agenesis of the corpus callosum Carcinoma Weak cry Gonadal dysgenesis Corpus callosum atrophy Remnants of the hyaloid vascular system Hypertelorism Syndactyly Polydactyly Frontoparietal polymicrogyria


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