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Polymicrogyria, bilateral perisylvian, autosomal recessive(CDCBM14B)

MedGen UID:: 816735
•Concept ID:: C3810405
•: Disease or Syndrome

Synonyms:	CDCBM14B; CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 14B (BILATERAL PERISYLVIAN)

Gene (location): Gene(s) directly associated with this condition or phenotype.	ADGRG1 (16q21)

Monarch Initiative:	MONDO:0014333
OMIM®:	615752

Definition

Complex cortical dysplasia with other brain malformations-14B (CDCBM14B) is an autosomal recessive disorder characterized by strikingly restricted polymicrogyria limited to the cortex surrounding the Sylvian fissure. Affected individuals have variable intellectual and language difficulty and seizures, but no motor disability (Bae et al., 2014). For a discussion of genetic heterogeneity of CDCBM, see CDCBM1 (614039). [from OMIM]

Clinical features

From HPO

Language disorder

MedGen UID:: 44069
•Concept ID:: C0023015
•: Mental or Behavioral Dysfunction

Language impairment is a deficit in comprehension or production of language that includes reduced vocabulary, limited sentence structure, or impairments in written or spoken communication. Language abilities are substantially and quantifiably below age expectations.

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Seizure

MedGen UID:: 20693
•Concept ID:: C0036572
•: Sign or Symptom

A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.

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Motor delay

MedGen UID:: 381392
•Concept ID:: C1854301
•: Finding

A type of Developmental delay characterized by a delay in acquiring motor skills.

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Perisylvian polymicrogyria

MedGen UID:: 481305
•Concept ID:: C3279675
•: Finding

Polymicrogyria (an excessive number of small gyri or convolutions) that is maximal in perisylvian regions (the regions that surround the Sylvian fissures), which may be symmetric or asymmetric and may extend beyond perisylvian regions. The Sylvian fissures often extend posteriorly and superiorly.

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Intellectual disability

MedGen UID:: 811461
•Concept ID:: C3714756
•: Mental or Behavioral Dysfunction

Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.

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Exotropia

MedGen UID:: 4613
•Concept ID:: C0015310
•: Disease or Syndrome

A form of strabismus with one or both eyes deviated outward.

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Abnormality of the eye
- Exotropia
Abnormality of the nervous system

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVCongenital bilateral perisylvian syndrome
- CROGVPolymicrogyria, bilateral perisylvian, autosomal recessive
- CROGVPolymicrogyria, bilateral perisylvian, X-linked
- CROGVPolymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis

Abnormal cerebral morphology
- Abnormal cerebral cortex morphology
  - Abnormal cortical gyration
    - Polymicrogyria
      - Bilateral polymicrogyria
        Congenital bilateral perisylvian syndrome
        Polymicrogyria, bilateral perisylvian, autosomal recessive

Professional guidelines

PubMed

Epileptogenic brain malformations: clinical presentation, malformative patterns and indications for genetic testing.

Guerrini R, Carrozzo R
Seizure 2002 Apr;11 Suppl A:532-43; quiz 544-7. PMID: 12185771

Epileptogenic brain malformations: clinical presentation, malformative patterns and indications for genetic testing.

Guerrini R, Carrozzo R
Seizure 2001 Oct;10(7):532-43; quiz 544-7. doi: 10.1053/seiz.2001.0650. PMID: 11749114

See all (2)

Recent clinical studies

Etiology

Genetic malformations of cortical development.

Guerrini R, Marini C
Exp Brain Res 2006 Aug;173(2):322-33. Epub 2006 May 25 doi: 10.1007/s00221-006-0501-z. PMID: 16724181

Epileptogenic brain malformations: clinical presentation, malformative patterns and indications for genetic testing.

Guerrini R, Carrozzo R
Seizure 2002 Apr;11 Suppl A:532-43; quiz 544-7. PMID: 12185771

Epileptogenic brain malformations: clinical presentation, malformative patterns and indications for genetic testing.

Guerrini R, Carrozzo R
Seizure 2001 Oct;10(7):532-43; quiz 544-7. doi: 10.1053/seiz.2001.0650. PMID: 11749114

See all (3)

Diagnosis

Improving the phenotype description of Basel-Vanagaite-Smirin-Yosef syndrome, MED25-related: polymicrogyria as a distinctive neuroradiological finding.

Maini I, Errichiello E, Caraffi SG, Rosato S, Bizzarri V, Pollazzon M, Trimarchi G, Contrò G, Cavirani B, Gelmini C, Napoli M, Moratti C, Pascarella R, Rizzi S, Fusco C, Zuffardi O, Garavelli L
Neurogenetics 2021 Mar;22(1):19-25. Epub 2020 Aug 20 doi: 10.1007/s10048-020-00625-2. PMID: 32816121

Epileptogenic brain malformations: clinical presentation, malformative patterns and indications for genetic testing.

Guerrini R, Carrozzo R
Seizure 2001 Oct;10(7):532-43; quiz 544-7. doi: 10.1053/seiz.2001.0650. PMID: 11749114

See all (2)