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Disease Profile

Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

Unknown

Age of onset

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ICD-10

#N/A

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

Cortical dysplasia, complex, with other brain malformations 1

Categories

Congenital and Genetic Diseases; Nervous System Diseases

Summary

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
orphanet

Orpha Number: 300570

Definition
A rare, genetic, non-syndromic cerebral malformation due to abnormal neuronal migration disease characterized by the association of cortical dysplasia and pontocerebellar hypoplasia, manifesting with global developmental delay, mild to severe intellectual disability, axial hypotonia, strabismus, nystagmus and, occasionally, optic nerve hypoplasia. Brain imaging reveals variable malformations, including frontally predominant microgyria, gyral disorganization and simplification, dysmorphic and hypertrophic basal ganglia, cerebellar vermis dysplasia, brainstem/corpus callosum hypoplasia, and/or olfactory bulbs agenesis.

Visit the Orphanet disease page for more resources.

Symptoms

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Medical Terms Other Names
Learn More:
HPO ID
30%-79% of people have these symptoms
Bilateral ptosis
Drooping of both upper eyelids
0001488
Cerebellar hypoplasia
Small cerebellum
Underdeveloped cerebellum

[ more ]

0001321
Delayed ability to sit
0025336
Delayed fine motor development
0010862
Esotropia
Inward turning cross eyed
0000565
Expressive language delay
0002474
Feeding difficulties in infancy
0008872
Hypoplasia of the brainstem
Small brainstem
Underdeveloped brainstem

[ more ]

0002365
Hypoplasia of the corpus callosum
Underdevelopment of part of brain called corpus callosum
0002079
Inability to walk
0002540
Infantile axial hypotonia
0009062
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation

[ more ]

0001249
Nystagmus
Involuntary, rapid, rhythmic eye movements
0000639
Partial agenesis of the corpus callosum
0001338
Polymicrogyria
More grooves in brain
0002126
Poor speech
0002465
Postnatal growth retardation
Growth delay as children
0008897
Severe global developmental delay
0011344
Simplified gyral pattern
0009879
Spastic ataxia
0002497
Type II lissencephaly
0007260
5%-29% of people have these symptoms
Abnormal autonomic nervous system physiology
0012332
Abnormal best corrected visual acuity test
0030534
Abnormal saccadic eye movements
0000570
Abnormality of thalamus morphology
0010663
Agenesis of the anterior commissure
0030302
Bilateral sensorineural hearing impairment
0008619
Cerebellar vermis hypoplasia
0001320
Congenital fibrosis of extraocular muscles
0001491
Congenital microcephaly
0011451
Cubitus valgus
Outward turned elbows
0002967
Delayed social development
0012434
Dilation of lateral ventricles
0006956
Downslanted palpebral fissures
Downward slanting of the opening between the eyelids
0000494
Dysarthria
Difficulty articulating speech
0001260
Dysgenesis of the hippocampus
0025101
Epicanthus
Eye folds
Prominent eye folds

[ more ]

0000286
Flat occiput
0005469
Focal-onset seizure
Seizure affecting one half of brain
0007359
Genu valgum
Knock knees
0002857
Grasp reflex
0030903
High palate
Elevated palate
Increased palatal height

[ more ]

0000218
Hypoplasia of the olfactory bulb
0040326
Impaired mastication
Chewing difficulties
Chewing difficulty
Difficulty chewing

[ more ]

0005216
Impaired social interactions
Impaired social interaction
Poor social interactions

[ more ]

0000735
Insomnia
Difficulty staying or falling asleep
0100785
Joint laxity
Joint instability
Lax joints
Loose-jointedness
Loosejointedness

[ more ]

0001388
Kyphoscoliosis
0002751
Large basal ganglia
0007048
Low-set ears
Low set ears
Lowset ears

[ more ]

0000369
Macrocephaly
Increased size of skull
Large head
Large head circumference

[ more ]

0000256
Metatarsus adductus
Front half of foot turns inward
0001840
Micrognathia
Little lower jaw
Small jaw
Small lower jaw

[ more ]

0000347
Mood changes
Moody
0001575
Normal pressure hydrocephalus
0002343
Oculomotor apraxia
0000657
Optic nerve hypoplasia
0000609
Plagiocephaly
Flat head syndrome
Flattening of skull
Rhomboid shaped skull

[ more ]

0001357
Seizure
0001250
Short attention span
Poor attention span
Problem paying attention

[ more ]

0000736
Short foot
Short feet
Small feet

[ more ]

0001773
Small basal ganglia
0012697

Learn more

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

In-Depth Information

  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.

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