Arthritis, and Polymicrogyria

Diseases related with Arthritis and Polymicrogyria

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


Top matches:

Low match DIGEORGE SYNDROME; DGS


DiGeorge syndrome (DGS) comprises hypocalcemia arising from parathyroid hypoplasia, thymic hypoplasia, and outflow tract defects of the heart. Disturbance of cervical neural crest migration into the derivatives of the pharyngeal arches and pouches can account for the phenotype. Most cases result from a deletion of chromosome 22q11.2 (the DiGeorge syndrome chromosome region, or DGCR). Several genes are lost including the putative transcription factor TUPLE1 which is expressed in the appropriate distribution. This deletion may present with a variety of phenotypes: Shprintzen, or velocardiofacial, syndrome (VCFS ); conotruncal anomaly face (or Takao syndrome); and isolated outflow tract defects of the heart including tetralogy of Fallot, truncus arteriosus, and interrupted aortic arch. A collective acronym CATCH22 has been proposed for these differing presentations. A small number of cases of DGS have defects in other chromosomes, notably 10p13 (see {601362}). In the mouse, a transgenic Hox A3 (Hox 1.5) knockout produces a phenotype similar to DGS as do the teratogens retinoic acid and alcohol.

DIGEORGE SYNDROME; DGS Is also known as hypoplasia of thymus and parathyroids|chromosome 22q11.2 deletion syndrome|third and fourth pharyngeal pouch syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about DIGEORGE SYNDROME; DGS

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Other less relevant matches:

Low match BILATERAL FRONTOPARIETAL POLYMICROGYRIA


Bilateral frontoparietal polymicrogyria (BFPP) is a sub-type of polymicrogyria (PMG; see this term), a cerebral cortical malformation characterized by excessive cortical folding and abnormal cortical layering, that involves the frontoparietal region of the brain and that presents with hypotonia, developmental delay, moderate to severe intellectual disability, pyramidal signs, epileptic seizures, non progressive cerebellar ataxia, dysconjugate gaze and/or strabismus.

BILATERAL FRONTOPARIETAL POLYMICROGYRIA Is also known as cerebellar ataxia with neuronal migration defect

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about BILATERAL FRONTOPARIETAL POLYMICROGYRIA

Low match CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2; CDCBM2


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2; CDCBM2

Low match CORTICAL DYSGENESIS WITH PONTOCEREBELLAR HYPOPLASIA DUE TO TUBB3 MUTATION


Complex cortical dysplasia with other brain malformations (CDCBM) is a disorder of aberrant neuronal migration and disturbed axonal guidance. Affected individuals have mild to severe mental retardation, strabismus, axial hypotonia, and spasticity. Brain imaging shows variable malformations of cortical development, including polymicrogyria, gyral disorganization, and fusion of the basal ganglia, as well as thin corpus callosum, hypoplastic brainstem, and dysplastic cerebellar vermis. Extraocular muscles are not involved (summary by Poirier et al., 2010).Mutation in the TUBB3 gene can also cause congenital fibrosis of extraocular muscles-3A (CFEOM3A ), a milder and somewhat different neurologic phenotype. Genetic Heterogeneity of Complex Cortical Dysplasia With Other Brain MalformationsSee also CDCBM2 (OMIM ), caused by mutation in the KIF5C gene (OMIM ) on chromosome 2q23; CDCBM3 (OMIM ), caused by mutation in the KIF2A gene (OMIM ) on chromosome 5q12; CDCBM4 (OMIM ), caused by mutation in the TUBG1 gene (OMIM ) on chromosome 17q21; CDCBM5 (OMIM ), caused by mutation in the TUBB2A gene (OMIM ) on chromosome 6p25; CDCBM6 (OMIM ), caused by mutation in the TUBB gene (OMIM ) on chromosome 6p21; CDCBM7 (OMIM ), caused by mutation in the TUBB2B gene (OMIM ) on chromosome 6p25; and CDCBM8 (OMIM ), caused by mutation in the TUBA8 gene (OMIM ) on chromosome 22q11.See also lissencephaly (e.g., LIS1, {607432}), which shows overlapping features and may result from mutation in tubulin genes.

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about CORTICAL DYSGENESIS WITH PONTOCEREBELLAR HYPOPLASIA DUE TO TUBB3 MUTATION

Low match EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 2; FFEVF2


Familial focal epilepsy with variable foci (FFEVF) is an autosomal dominant form of epilepsy characterized by focal seizures arising from different cortical regions, including the temporal, frontal, parietal, and occipital lobes. Seizure types commonly include temporal lobe epilepsy (TLE), frontal lobe epilepsy (FLE), and nocturnal frontal lobe epilepsy (NFLE). A subset of patients have structural brain abnormalities, particularly focal cortical dysplasia (FCD). There is significant incomplete penetrance, with many unaffected mutation carriers within a family (summary by Ricos et al., 2016).For a discussion of genetic heterogeneity of FFEVF, see FFEVF1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Neoplasm
  • Polymicrogyria
  • Focal-onset seizure


SOURCES: OMIM MENDELIAN

More info about EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 2; FFEVF2

Low match MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 6; MDDGA6


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

Low match POLYMICROGYRIA, BILATERAL PERISYLVIAN, AUTOSOMAL RECESSIVE; BPPR


Autosomal recessive bilateral perisylvian polymicrogyria is characterized by strikingly restricted polymicrogyria limited to the cortex surrounding the Sylvian fissure. Affected individuals have intellectual and language difficulty and seizures, but no motor disability (Bae et al., 2014).

POLYMICROGYRIA, BILATERAL PERISYLVIAN, AUTOSOMAL RECESSIVE; BPPR Is also known as pmgr

Related symptoms:

  • Intellectual disability
  • Seizures
  • Nystagmus
  • Polymicrogyria
  • Esotropia


SOURCES: OMIM MENDELIAN

More info about POLYMICROGYRIA, BILATERAL PERISYLVIAN, AUTOSOMAL RECESSIVE; BPPR

Low match OCCIPITAL PACHYGYRIA AND POLYMICROGYRIA


Occipital pachygyria and polymicrogyria is a rare, genetic, cerebral malformation characterized by the presence of cortical smoothening with loss of secondary and tertiary gyri, associated with an excessive number of small, irregular gyri with increased cortical thickness, located in the occipital lobes. Patients usually present with seizures (including myoclonic-astatic, absence, atypical absence, vision loss, myoclonic-atonic, generalized tonic-clonic) and variable (absent to moderate) developmental and/or intellectual delay.

OCCIPITAL PACHYGYRIA AND POLYMICROGYRIA Is also known as occipital malformations of cortical development|occipital mcd

Related symptoms:

  • Seizures
  • Global developmental delay
  • Visual loss
  • Reduced visual acuity
  • EEG abnormality


SOURCES: ORPHANET OMIM MENDELIAN

More info about OCCIPITAL PACHYGYRIA AND POLYMICROGYRIA

Top 5 symptoms//phenotypes associated to Arthritis and Polymicrogyria

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Perisylvian polymicrogyria Common - Between 50% and 80% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Cerebellar hypoplasia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Microcephaly Flexion contracture Cortical dysplasia Lissencephaly Hypertonia Nystagmus Strabismus Hypoplasia of the corpus callosum

Rare Symptoms - Less than 30% cases


Tetraplegia Type II lissencephaly Hypoplasia of the brainstem Congenital muscular dystrophy Generalized tonic-clonic seizures Pachygyria Generalized hypotonia Muscular dystrophy Intellectual disability, moderate Exotropia Intellectual disability, severe Ventriculomegaly Arthrogryposis multiplex congenita Esotropia Frontoparietal polymicrogyria Micrognathia Neoplasm Abnormal facial shape Hydrocephalus Feeding difficulties Talipes Overlapping fingers Cerebellar dysplasia Externally rotated hips Ataxia Motor delay Language impairment Hyperreflexia Diffuse white matter abnormalities Babinski sign Cerebellar cyst Hypoplasia of the pons Abnormal pyramidal sign Dolichocephaly Talipes equinovarus Dysmetria Aplasia of the thymus Duodenal stenosis Retinal vascular tortuosity Abnormality of the middle ear Abnormality of the thymus Visual loss Vascular tortuosity Conotruncal defect Arteria lusoria Type I truncus arteriosus Right aortic arch with mirror image branching Esophoria Accommodative esotropia Sacral meningocele Decreased circulating parathyroid hormone level Parathyroid hypoplasia Parathyroid agenesis Retinal dysplasia Severe muscular hypotonia Abnormal cerebellum morphology Ophthalmoplegia Optic atrophy Severe intrauterine growth retardation Fetal akinesia sequence Myopia Spasticity Agenesis of corpus callosum Muscular hypotonia of the trunk Polyneuropathy Spastic tetraplegia External ophthalmoplegia Optic nerve hypoplasia Congenital contracture Spastic diplegia Congenital fibrosis of extraocular muscles Focal-onset seizure Focal cortical dysplasia Akinesia Dilatation Cataract Areflexia Broad-based gait Intellectual disability, profound Truncal ataxia Dandy-Walker malformation Abnormality of the cerebral white matter Elevated serum creatine phosphokinase Ankle clonus Nonprogressive cerebellar ataxia Small hand Cerebral dysmyelination EEG abnormality Polymicrogyria, anterior to posterior gradient Impaired T cell function Growth delay Intrauterine growth retardation Absent speech Reduced visual acuity Hypoplasia of the thymus Right aortic arch Cleft lip Inguinal hernia Posteriorly rotated ears Narrow mouth Hypothyroidism Retrognathia Umbilical hernia Hydronephrosis Telecanthus Abnormality of the kidney Patent ductus arteriosus Abnormality of the pinna Craniosynostosis Blepharophimosis Autoimmunity Attention deficit hyperactivity disorder Short philtrum Microtia Astigmatism Bulbous nose Abnormal heart morphology Obesity Hemolytic anemia High palate Short stature Hearing impairment Scoliosis Hypertelorism Cleft palate Ptosis Low-set ears Cognitive impairment Anemia Delayed speech and language development Thrombocytopenia Fever Ventricular septal defect Short neck Atrial septal defect Behavioral abnormality Immunodeficiency Microphthalmia Recurrent infections Abnormality of cardiovascular system morphology Iris coloboma High, narrow palate Alcoholism Truncus arteriosus Inflammation of the large intestine Autoimmune hemolytic anemia Autoimmune thrombocytopenia Posterior embryotoxon Bipolar affective disorder Vitiligo Hypoparathyroidism Meningocele Sclerocornea Myelomeningocele Unilateral renal agenesis Tetany Juvenile rheumatoid arthritis Seborrheic dermatitis Anterior segment developmental abnormality Aplasia of the uterus Graves disease Interrupted aortic arch Perimembranous ventricular septal defect Femoral hernia Acne Psoriasiform dermatitis Bifid uvula Renal dysplasia Chorea Renal agenesis Specific learning disability Amenorrhea Tetralogy of Fallot Coarctation of aorta Low posterior hairline Short palpebral fissure Primary amenorrhea Broad thumb Rheumatoid arthritis Amblyopia Spina bifida Hypocalcemia Purpura Bicuspid aortic valve Schizophrenia Arnold-Chiari malformation Nasal speech Cholelithiasis Absence seizures



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